Access the full text.
Sign up today, get DeepDyve free for 14 days.
Yijing Chen, D. Yee, T. Magnuson (2006)
A novel mouse Smad4 mutation reduces protein stability and wild-type protein levelsMammalian Genome, 17
Jian-Dong Huang, V. Mermall, M. Strobel, L. Russell, M. Mooseker, N. Copeland, N. Jenkins (1998)
Molecular genetic dissection of mouse unconventional myosin-VA: tail region mutations.Genetics, 148 4
Perspectives Anecdotal, Historical and Critical Commentaries on Genetics An Oak Ridge Legacy: The Specific Locus Test and Its Role in Mouse Mutagenesis
Peter Visscher, Chris Haley, Robin Thompson (1996)
Marker-assisted introgression in backcross breeding programs.Genetics, 144 4
A. Porret, A. Mérillat, S. Guichard, F. Beermann, E. Hummler (2006)
Tissue-specific transgenic and knockout mice.Methods in molecular biology, 337
J. Favor, H. Peters, Thomas Hermann, W. Schmahl, B. Chatterjee, A. Neuhäuser-Klaus, R. Sandulache (2001)
Molecular characterization of Pax6(2Neu) through Pax6(10Neu): an extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse Mus musculus.Genetics, 159 4
H. Masuya, H. Sezutsu, Y. Sakuraba, T. Sagai, M. Hosoya, H. Kaneda, I. Miura, Kimio Kobayashi, K. Sumiyama, A. Shimizu, J. Nagano, Haruka Yokoyama, S. Kaneko, Noriko Sakurai, Yuka Okagaki, T. Noda, S. Wakana, Y. Gondo, T. Shiroishi (2007)
A series of ENU-induced single-base substitutions in a long-range cis-element altering Sonic hedgehog expression in the developing mouse limb bud.Genomics, 89 2
G. Cobellis, G. Nicolaus, M. Iovino, Antonio Romito, E. Marra, M. Barbarisi, Marco Sardiello, F. Giorgio, Nicola Iovino, M. Zollo, A. Ballabio, R. Cortese (2005)
Tagging genes with cassette-exchange sitesNucleic Acids Research, 33
Robert Williams, L. Flaherty, D. Threadgill (2003)
The math of making mutant miceGenes, 2
A. Lalouette, J. Guénet, S. Vriz (1998)
Hotfoot Mouse Mutations Affect the δ2 Glutamate Receptor Gene and Are Allelic to LurcherGenomics, 50
S. Elsea, R. Lucas (2002)
The mousetrap: what we can learn when the mouse model does not mimic the human disease.ILAR journal, 43 2
Wilson Marques, J. Neto, A. Barreira (2004)
Dejerine–Sottas’ neuropathy caused by the missense mutation PMP22 Ser72LeuActa Neurologica Scandinavica, 110
R. Sandulache, W. Pretsch, B. Chatterjee, W. Gimbel, Jochen Graw, J. Favor (1994)
Molecular analysis of four lactate dehydrogenase-A mutants in the mouseMammalian Genome, 5
A. Routtenberg (1995)
Knockout mouse fault linesNature, 374
J. Snouwaert, K. Brigman, A. Latour, N. Malouf, R. Boucher, O. Smithies, B. Koller (1992)
An Animal Model for Cystic Fibrosis Made by Gene TargetingScience, 257
D. Leroith, O. Gavrilova (2006)
Mouse models created to study the pathophysiology of Type 2 diabetes.The international journal of biochemistry & cell biology, 38 5-6
L. Solberg, W. Valdar, D. Gauguier, Graciela Nunez, Amy Taylor, Stephanie Burnett, Carmen Arboledas-Hita, Polinka Hernandez-Pliego, Stuart Davidson, Peter Burns, S. Bhattacharya, Tertius Hough, D. Higgs, P. Klenerman, W. Cookson, Youming Zhang, Robert Deacon, J. Rawlins, R. Mott, J. Flint (2006)
A protocol for high-throughput phenotyping, suitable for quantitative trait analysis in miceMammalian Genome, 17
A. Gloyn (2003)
Glucokinase (GCK) mutations in hyper‐ and hypoglycemia: Maturity‐onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancyHuman Mutation, 22
D. Rogers, E. Fisher, S.D.M. Brown, J. Peters, A. Hunter, Joanne Martin (1997)
Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessmentMammalian Genome, 8
P. Stenson, E. Ball, M. Mort, A. Phillips, Jacqueline Shiel, S. Abeysinghe, M. Krawczak, D. Cooper (2003)
Human Gene Mutation Database (HGMD
P. Mburu, Xue Liu, J. Walsh, Dennis Saw, M. Cope, F. Gibson, John Kendrick-Jones, Karen Steel, S. Brown (1997)
Mutation analysis of the mouse myosin VIIA deafness gene.Genes and function, 1 3
M. Angelis, H. Flaswinkel, H. Fuchs, B. Rathkolb, D. Soewarto, S. Marschall, S. Heffner, W. Pargent, K. Wuensch, M. Jung, A. Reis, T. Richter, F. Alessandrini, T. Jakob, Edith Fuchs, H. Kolb, E. Kremmer, Karlheinz Schaeble, Boris Rollinski, A. Roscher, C. Peters, T. Meitinger, T. Strom, T. Steckler, F. Holsboer, T. Klopstock, F. Gekeler, C. Schindewolf, Thomas Jung, K. Avraham, H. Behrendt, J. Ring, A. Zimmer, K. Schughart, K. Pfeffer, E. Wolf, R. Balling (2000)
Genome-wide, large-scale production of mutant mice by ENU mutagenesisNature Genetics, 25
Jiang Wu, R. Reed, P. Grabowski, K. Artzt (2002)
Function of quaking in myelination: Regulation of alternative splicingProceedings of the National Academy of Sciences of the United States of America, 99
M. Justice, V. Bode (1988)
Three ENU-induced alleles of the murine quaking locus are recessive embryonic lethal mutations.Genetical research, 51 2
J. Noveroske, R. Hardy, Jason Dapper, H. Vogel, M. Justice (2005)
A new ENU-induced allele of mouse quaking causes severe CNS dysmyelinationMammalian Genome, 16
U. Suter, John MOSKOWt, A. Andrew, WELCHERt, G. Snipes, B. Kosaras, R. Sidman, Arthur BUCHBERGt, E. Shooter (1992)
A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse.Proceedings of the National Academy of Sciences of the United States of America, 89
J Favor (2001)
1689Genetics, 159
David Buchner, K. Seburn, W. Frankel, M. Meisler (2004)
Three ENU-induced neurological mutations in the pore loopof sodium channel Scn8a (Nav1.6) and a genetically linkedretinal mutation, rd13Mammalian Genome, 15
C. Branda, S. Dymecki (2004)
Talking about a revolution: The impact of site-specific recombinases on genetic analyses in mice.Developmental cell, 6 1
E. Davis, A. Cuesta-Muñoz, M. Raoul, C. Buettger, I. Sweet, M. Moates, M. Magnuson, F. Matschinsky (1999)
Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasisDiabetologia, 42
A. Russ, G. Stumm, M. Augustin, R. Sedlmeier, S. Wattler, M. Nehls (2002)
Random mutagenesis in the mouse as a tool in drug discovery.Drug discovery today, 7 23
E. Coghill, A. Hugill, Nick Parkinson, C. Davison, P. Glenister, S. Clements, J. Hunter, R. Cox, Steve Brown (2002)
A gene-driven approach to the identification of ENU mutants in the mouseNature Genetics, 30
A. Hamosh, A. Scott, J. Amberger, C. Bocchini, David Valle, V. McKusick (2004)
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disordersNucleic Acids Research, 33
B. Zambrowicz, A. Sands (2003)
Knockouts model the 100 best-selling drugs—will they model the next 100?Nature Reviews Drug Discovery, 2
JD Huang (1998)
1963Genetics, 148
Jay Vivian, Yijing Chen, D. Yee, Elizabeth Schneider, Terry Magnuson (2002)
An allelic series of mutations in Smad2 and Smad4 identified in a genotype-based screen of N-ethyl-N- nitrosourea-mutagenized mouse embryonic stem cellsProceedings of the National Academy of Sciences of the United States of America, 99
P. Hermanns, A. Bertuch, T. Bertin, B. Dawson, M. Schmitt, C. Shaw, B. Zabel, Brendan Lee (2005)
Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.Human molecular genetics, 14 23
J. Grosse, P. Tarnow, Holger Römpler, Boris Schneider, R. Sedlmeier, U. Huffstadt, D. Korthaus, M. Nehls, S. Wattler, T. Schöneberg, H. Biebermann, M. Augustin (2006)
N-ethyl-N-nitrosourea-based generation of mouse models for mutant G protein-coupled receptors.Physiological genomics, 26 3
S. Antonarakis, J. Beckmann (2006)
Mendelian disorders deserve more attentionNature Reviews Genetics, 7
Comparative genetic analysis 421
D.Wade Walke, Chunsheng Han, Joseph Shaw, Elisabeth Wann, B. Zambrowicz, A. Sands (2001)
In vivo drug target discovery: identifying the best targets from the genome.Current opinion in biotechnology, 12 6
Steve Brown, R. Balling (2001)
Systematic approaches to mouse mutagenesis.Current opinion in genetics & development, 11 3
A. Isaacs, P. Oliver, E. Jones, A. Jeans, A. Potter, Berit Hovik, P. Nolan, L. Vizor, P. Glenister, A. Simon, I. Gray, N. Spurr, S. Brown, A. Hunter, K. Davies (2003)
A Mutation in Af4 Is Predicted to Cause Cerebellar Ataxia and Cataracts in the Robotic MouseThe Journal of Neuroscience, 23
A. Hart, L. McKie, J. Morgan, P. Gautier, K. West, I. Jackson, S. Cross (2005)
Genotype-phenotype correlation of mouse pde6b mutations.Investigative ophthalmology & visual science, 46 9
S. Cordes (2005)
N-Ethyl-N-Nitrosourea Mutagenesis: Boarding the Mouse Mutant ExpressMicrobiology and Molecular Biology Reviews, 69
Maki Inoue, Y. Sakuraba, Hiromi Motegi, N. Kubota, Hideaki Toki, J. Matsui, Y. Toyoda, I. Miwa, Y. Terauchi, T. Kadowaki, Yutaka Shigeyama, M. Kasuga, Takashi Adachi, N. Fujimoto, Rie Matsumoto, K. Tsuchihashi, Tomoko Kagami, A. Inoue, H. Kaneda, J. Ishijima, H. Masuya, Tomohiro Suzuki, S. Wakana, Y. Gondo, O. Minowa, T. Shiroishi, T. Noda (2004)
A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis program.Human molecular genetics, 13 11
G. Chang, Y. Hao, F. Wong (1993)
Apoptosis: Final common pathway of photoreceptor death in rd, rds, and mutant miceNeuron, 11
Yijing Chen, D. Yee, K. Dains, A. Chatterjee, J. Cavalcoli, Elizabeth Schneider, Jinsop Om, R. Woychik, T. Magnuson (2000)
Genotype-based screen for ENU-induced mutations in mouse embryonic stem cellsNature Genetics, 24
T. Meehan, K. Tabeta, Xin Du, Lanette Woodward, K. Firozi, B. Beutler, M. Justice (2006)
Point mutations in the melanocortin-4 receptor cause variable obesity in miceMammalian Genome, 17
Y. Ning, A. Schuller, S. Bradshaw, P. Rotwein, T. Ludwig, J. Frystyk, J. Pintar (2006)
Diminished growth and enhanced glucose metabolism in triple knockout mice containing mutations of insulin-like growth factor binding protein-3, -4, and -5.Molecular endocrinology, 20 9
Margaret McLaughlin, Traci Ehrhart, E. Berson, T. Dryja (1995)
Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.Proceedings of the National Academy of Sciences of the United States of America, 92
PC Marker (1997)
435Genetics, 145
Mamm Genome
AE Kiernan (2002)
142Mamm Genome, 13
C. Postic, M. Shiota, K. Niswender, T. Jetton, Yeujin Chen, J. Moates, K. Shelton, J. Lindner, A. Cherrington, M. Magnuson (1999)
Dual Roles for Glucokinase in Glucose Homeostasis as Determined by Liver and Pancreatic β Cell-specific Gene Knock-outs Using Cre Recombinase*The Journal of Biological Chemistry, 274
Y. Sakuraba, H. Sezutsu, K. Takahasi, K. Tsuchihashi, R. Ichikawa, N. Fujimoto, S. Kaneko, Y. Nakai, M. Uchiyama, Noriko Goda, Rika Motoi, Ami Ikeda, Yuko Karashima, Maki Inoue, H. Kaneda, H. Masuya, O. Minowa, H. Noguchi, A. Toyoda, Y. Sakaki, S. Wakana, T. Noda, T. Shiroishi, Y. Gondo (2005)
Molecular characterization of ENU mouse mutagenesis and archives.Biochemical and biophysical research communications, 336 2
L. Lettice, T. Horikoshi, S. Heaney, M. Baren, H. Linde, G. Breedveld, M. Joosse, N. Akarsu, B. Oostra, N. Endo, M. Shibata, Mikio Suzuki, E. Takahashi, T. Shinka, Y. Nakahori, D. Ayusawa, K. Nakabayashi, S. Scherer, P. Heutink, R. Hill, S. Noji (2002)
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactylyProceedings of the National Academy of Sciences of the United States of America, 99
M. Gidh-Jain, J. Takeda, Liang Xu, A. Lange, N. Vionnet, M. Stoffel, P. Froguel, G. Velho, F. Sun, D. Cohen, P. Patel, Yuk-ming Lo, A. Hattersley, H. Luthman, A. Wedell, R. Charles, R. Harrison, I. Weber, G. Bell, S. Pilkis (1993)
Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships.Proceedings of the National Academy of Sciences of the United States of America, 90
Edward Michaud, C. Culiat, M. Klebig, Paul Barker, KT Cain, Debra Carpenter, Lori Easter, Carmen Foster, Alysyn Gardner, ZY Guo, Kay Houser, Lori Hughes, M. Kerley, Zhaowei Liu, Robert Olszewski, Irina Pinn, Ginger Shaw, S. Shinpock, A. Wymore, E. Rinchik, Dabney Johnson (2005)
Efficient gene-driven germ-line point mutagenesis of C57BL/6J miceBMC Genomics, 6
C. Parent (2004)
Faculty Opinions recommendation of PI3Kgamma modulates the cardiac response to chronic pressure overload by distinct kinase-dependent and -independent effects.
V. Letts, Myoung-Goo Kang, C. Mahaffey, B. Beyer, Heather Tenbrink, K. Campbell, W. Frankel (2003)
Phenotypic heterogeneity in the stargazin allelic seriesMammalian Genome, 14
Steve Brown, Jo Peters (1996)
Combining mutagenesis and genomics in the mouse--closing the phenotype gap.Trends in genetics : TIG, 12 11
E. Bitoun, P. Oliver, K. Davies (2007)
The mixed-lineage leukemia fusion partner AF4 stimulates RNA polymerase II transcriptional elongation and mediates coordinated chromatin remodeling.Human molecular genetics, 16 1
B. Zingg, W. Pretsch, H. Mohrenweiser (1995)
Molecular analysis of four ENU induced triosephosphate isomerase null mutants in Mus musculus.Mutation research, 328 2
Martin Augustin, Reinhard Sedlmeier, Thomas Peters, U. Huffstadt, E. Kochmann, D. Simon, M. Schöniger, S. Garke-Mayerthaler, J. Laufs, M. Mayhaus, S. Franke, M. Klose, A. Graupner, M. Kurzmann, C. Zinser, A. Wolf, M. Voelkel, M. Kellner, M. Kilian, S. Seelig, A. Koppius, Andreas Teubner, D. Korthaus, Michael Nehls, S. Wattler (2005)
Efficient and fast targeted production of murine models based on ENU mutagenesisMammalian Genome, 16
Erika Bosman, A. Penn, John Ambrose, Ross Kettleborough, D. Stemple, K. Steel (2005)
Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.Human molecular genetics, 14 22
Jr Marques, MD Thomas, BSc Sweeney, MD Carr, MD Wood, P. Thomas, M. Sweeney, D. Wood (1998)
Dejerine‐sottas neuropathy and PMP22 point mutations: A new base pair substitution and a possible “hot spot” on Ser72Annals of Neurology, 43
Dorothy Concepcion, K. Seburn, G. Wen, W. Frankel, B. Hamilton (2004)
Mutation Rate and Predicted Phenotypic Target Sizes in Ethylnitrosourea-Treated MiceGenetics, 168
T. Sagai, H. Masuya, Masaru Tamura, Kunihiko Shimizu, Yukari Yada, S. Wakana, Y. Gondo, T. Noda, T. Shiroishi (2004)
Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog (Shh)Mammalian Genome, 15
S. Maas, J. Fallon (2005)
Single base pair change in the long‐range Sonic hedgehog limb‐specific enhancer is a genetic basis for preaxial polydactylyDevelopmental Dynamics, 232
K. Adlkofer, R. Martini, A. Aguzzi, J. Zielasek, K. Toyka, U. Suter (1995)
Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient miceNature Genetics, 11
L. Valentijn, F. Baas, R. Wolterman, J. Hoogendijk, N. Bosch, I. Zorn, A. Gabreëls-Festen, M. Visser, P. Bolhuis (1992)
Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1ANature Genetics, 2
K. Kaku, F. Fiedorek, M. Province, M. Permutt (1988)
Genetic Analysis of Glucose Tolerance in Inbred Mouse Strains: Evidence for Polygenic ControlDiabetes, 37
M. Weinstein, Xiao Yang, C. Deng (2000)
Functions of mammalian Smad genes as revealed by targeted gene disruption in mice.Cytokine & growth factor reviews, 11 1-2
D. Keays, P. Nolan (2003)
N-ethyl-N-nitrosourea mouse mutants in the dissection of behavioural and psychiatric disorders.European journal of pharmacology, 480 1-3
M. Miyaki, T. Kuroki (2003)
Role of Smad4 (DPC4) inactivation in human cancer.Biochemical and biophysical research communications, 306 4
P. Njølstad, O. Søvik, A. Cuesta-Muñoz, L. Bjørkhaug, O. Massa, F. Barbetti, D. Undlien, C. Shiota, M. Magnuson, A. Molven, F. Matschinsky, G. Bell (2001)
Neonatal diabetes mellitus due to complete glucokinase deficiency.The New England journal of medicine, 344 21
P. Nolan, J. Peters, M. Strivens, D. Rogers, J. Hagan, N. Spurr, I. Gray, L. Vizor, D. Brooker, E. Whitehill, R. Washbourne, Tertius Hough, Simon Greenaway, M. Hewitt, Xinhong Liu, Stefan McCormack, Karen Pickford, R. Selley, C. Wells, Z. Tymowska‐Lalanne, P. Roby, P. Glenister, Claire Thornton, C. Thaung, Julie-Anne Stevenson, R. Arkell, P. Mburu, R. Hardisty, A. Kiernan, A. Erven, K. Steel, S. Voegeling, J. Guénet, C. Nickols, R. Sadri, M. Naase, A. Isaacs, K. Davies, M. Browne, E. Fisher, Joanne Martin, S. Rastan, Steve Brown, J. Hunter (2000)
A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouseNature Genetics, 25
Patricia Isnard, N. Coré, P. Naquet, M. Djabali (2000)
Altered lymphoid development in mice deficient for the mAF4 proto-oncogene.Blood, 96 2
E. Olson, H. Arnold, P. Rigby, B. Wold (1996)
Know Your Neighbors: Three Phenotypes in Null Mutants of the Myogenic bHLH Gene MRF4Cell, 85
R. Cox, A. Hugill, A. Shedlovsky, J. Noveroske, Steve Best, M. Justice, H. Lehrach, W. Dove (1999)
Contrasting effects of ENU induced embryonic lethal mutations of the quaking gene.Genomics, 57 3
A. Jeans, A. Isaacs, P. Oliver, L. Vizor, S. Brown, J. Hunter, K. Davies (2003)
Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy.Molecular and cellular neurosciences, 21 1
C. Austin, J. Battey, A. Bradley, M. Bucan, M. Capecchi, F. Collins, W. Dove, G. Duyk, S. Dymecki, J. Eppig, F. Grieder, N. Heintz, G. Hicks, T. Insel, A. Joyner, B. Koller, K. Lloyd, T. Magnuson, Mark Moore, A. Nagy, J. Pollock, A. Roses, A. Sands, B. Seed, W. Skarnes, J. Snoddy, Philippe Soriano, D. Stewart, F. Stewart, B. Stillman, H. Varmus, L. Varticovski, I. Verma, T. Vogt, H. Melchner, J. Witkowski, R. Woychik, W. Wurst, G. Yancopoulos, S. Young, B. Zambrowicz (2004)
The Knockout Mouse ProjectNature Genetics, 36
W. Pretsch, B. Chatterjee, J. Favor, S. Merkle, R. Sandulache (1998)
Molecular, genetic and biochemical characterization of lactate dehydrogenase-A enzyme activity mutations in Mus musculusMammalian Genome, 9
B. Greber, H. Lehrach, H. Himmelbauer (2005)
Mouse splice mutant generation from ENU-treated ES cells--a gene-driven approach.Genomics, 85 5
S. Pearce, J. Peters, S. Ball, M. Morgan, James Walker, P. Faik (1995)
Sequence characterization of ENU-induced mutants of glucose phosphate isomerase in mouseMammalian Genome, 6
P Isnard (2000)
705Blood, 96
C. Culiat, M. Klebig, Zhaowei Liu, Heidi Monroe, B. Stanford, Jayashree Desai, S. Tandan, L. Hughes, M. Kerley, D. Carpenter, Dabney Johnson, E. Rinchik, Qingbo Li (2005)
Identification of mutations from phenotype-driven ENU mutagenesis in mouse Chromosome 7Mammalian Genome, 16
F. Runkel, A. Marquardt, Claudia Stoeger, E. Kochmann, D. Simon, B. Kohnke, D. Korthaus, F. Wattler, H. Fuchs, M. Angelis, G. Stumm, M. Nehls, S. Wattler, T. Franz, M. Augustin (2004)
The dominant alopecia phenotypes Bareskin, Rex-denuded, and Reduced Coat 2 are caused by mutations in gasdermin 3.Genomics, 84 5
M. Quwailid, A. Hugill, N. Dear, L. Vizor, S. Wells, E. Horner, Shelly Fuller, Jessica Weedon, H. McMath, P. Woodman, David Edwards, David Campbell, S. Rodger, Joanne Carey, Ann Roberts, P. Glenister, Zuzanna Lalanne, Nick Parkinson, E. Coghill, R. McKeone, Sam Cox, J. Willan, A. Greenfield, D. Keays, S. Brady, N. Spurr, I. Gray, J. Hunter, Steve Brown, R. Cox (2004)
A gene-driven ENU-based approach to generating an allelic series in any geneMammalian Genome, 15
W. Im, S. Phelps, Eecole Copen, E. Adams, J. Slightom, J. Chamberlain (1996)
Differential expression of dystrophin isoforms in strains of mdx mice with different mutations.Human molecular genetics, 5 8
R. Bayliss (1967)
Book Review: The Metabolic Basis of Inherited DiseaseJournal of the Royal Society of Medicine, 60
J Favor, CJ Gloeckner, D Janik, M Klempt, A Neuhauser-Klaus (2007)
Type IV procollagen missense mutations associated with defects of the eye, vascular stability, brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: An extension of the Col4a1 allelic series and the identification of the first 2 Col4a2 mutant allelesGenetics, 175
J Graw (2002)
1633Genetics, 161
V. Kuznetsov (2003)
RNA Interference. An Approach to Produce Knockout Organisms and Cell LinesBiochemistry (Moscow), 68
J Favor (2007)
725Genetics, 175
W. Poueymirou, W. Auerbach, D. Frendewey, Joseph Hickey, Jennifer Escaravage, L. Esau, Anthony Dore, S. Stevens, N. Adams, M. Dominguez, N. Gale, G. Yancopoulos, T. Dechiara, D. Valenzuela (2007)
F0 generation mice fully derived from gene-targeted embryonic stem cells allowing immediate phenotypic analysesNature Biotechnology, 25
J. Favor (1983)
A comparison of the dominant cataract and recessive specific-locus mutation rates induced by treatment of male mice with ethylnitrosourea.Mutation research, 110 2
S. Hitotsumachi, D. Carpenter, W. Russell (1985)
Dose-repetition increases the mutagenic effectiveness of N-ethyl-N-nitrosourea in mouse spermatogonia.Proceedings of the National Academy of Sciences of the United States of America, 82 19
E. Bitoun, K. Davies (2005)
The robotic mouse: Unravelling the function of AF4 in the cerebellumThe Cerebellum, 4
C. Dobson-Stone, R. Cox, L. Lonie, L. Southam, M. Fraser, C. Wise, F. Bernier, S. Hodgson, D. Porter, A. Simpson, A. Monaco (2000)
Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostosesEuropean Journal of Human Genetics, 8
J. Graw, J. Löster, O. Puk, D. Münster, N. Haubst, D. Soewarto, H. Fuchs, B. Meyer, P. Nürnberg, W. Pretsch, P. Selby, J. Favor, E. Wolf, M. Angelis (2005)
Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different consequences at target promoters.Investigative ophthalmology & visual science, 46 12
S. Pazzaglia (2006)
Ptc1 heterozygous knockout mice as a model of multi-organ tumorigenesis.Cancer letters, 234 2
J. Colby, R. Nicholson, K. Dickson, W. Orfali, R. Naef, U. Suter, G. Snipes (2000)
PMP22 Carrying the Trembler or Trembler-J Mutation Is Intracellularly Retained in Myelinating Schwann CellsNeurobiology of Disease, 7
AP Davis, MJ Justice (1998)
An Oak Ridge legacy: the specific locus test and its role in mouse mutagenesisGenetics, 148
A. Kiernan, A. Erven, S. Voegeling, J. Peters, P. Nolan, J. Hunter, Y. Bacon, K. Steel, Steve Brown, J. Guénet (2002)
ENU mutagenesis reveals a highly mutable locus on mouse Chromosome 4 that affects ear morphogenesisMammalian Genome, 13
U. Hochgeschwender, M. Brennan (1995)
Mouse knockouts rule OKNature, 375
JD Huang (1998)
1951Genetics, 148
Razqallah and, Tak Mak (2001)
Animal models of tumor-suppressor genes.Annual review of genetics, 35
WV Chen (2003)
367Methods Enzymol, 365
Annette Meeson, Nina Radford, John Shelton, P. Mammen, J. DiMaio, Kelley Hutcheson, Y. Kong, J. Elterman, R. Williams, Daniel Garry (2001)
Adaptive Mechanisms That Preserve Cardiac Function in Mice Without MyoglobinCirculation Research: Journal of the American Heart Association, 88
L. Lettice, S. Heaney, Lorna Purdie, Li Li, P. Beer, B. Oostra, D. Goode, G. Elgar, R. Hill, E. Graaff (2003)
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly.Human molecular genetics, 12 14
M. Justice (2000)
Capitalizing on large-scale mouse mutagenesis screensNature Reviews Genetics, 1
N. Ghebranious, L. Donehower (1998)
Mouse models in tumor suppressionOncogene, 17
JA Gingrich, R Hen (2000)
The broken mouse: the role of development, plasticity and environment in the interpretation of phenotypic changes in knockout miceCurr Opin Neurobiol, 10
Sharon Sheahan, C. Bellamy, L. Treanor, D. Harrison, S. Prost (2004)
Additive effect of p53, p21 and Rb deletion in triple knockout primary hepatocytesOncogene, 23
P. Marker, K. Seung, A. Bland, L. Russell, D. Kingsley (1997)
Spectrum of Bmp5 mutations from germline mutagenesis experiments in mice.Genetics, 145 2
J. Favor (1986)
The frequency of dominant cataract and recessive specific-locus mutations in mice derived from 80 or 160 mg ethylnitrosourea per kg body weight treated spermatogonia.Mutation research, 162 1
M. Angelis, R. Balling (1998)
Large scale ENU screens in the mouse: genetics meets genomics.Mutation research, 400 1-2
D. Keays, G. Tian, K. Poirier, Guo-Jen Huang, C. Siebold, James, Cleak, P. Oliver, M. Fray, R. Harvey, Z. Molnár, M. Piñon, Neil, Dear, W. Valdar, Steve Brown, K. Davies, J. Rawlins, J. Nicholas, Cowan, P. Nolan, J. Chelly, J. Flint (2007)
Mutations in α-Tubulin Cause Abnormal Neuronal Migration in Mice and Lissencephaly in HumansCell, 128
AM Isaacs (2002)
114Mol Cell Neurosci, 21
L. Valentijn, R. Ouvrier, Norbert Bosch, P. Bolhuis, F. Baas, G. Nicholson (1995)
Déjérine‐Sottas neuropathy is associated with a de novo PMP22 mutationHuman Mutation, 5
J. Graw, N. Klopp, J. Löster, D. Soewarto, H. Fuchs, J. Becker-Follmann, A. Reis, E. Wolf, R. Balling, M. Angelis (2001)
Ethylnitrosourea-induced mutation in mice leads to the expression of a novel protein in the eye and to dominant cataracts.Genetics, 157 3
B. Shastry (1998)
Gene disruption in mice: Models of development and diseaseMolecular and Cellular Biochemistry, 181
P. Stenson, E. Ball, M. Mort, A. Phillips, Jacqueline Shiel, N. Thomas, S. Abeysinghe, M. Krawczak, D. Cooper (2003)
Human Gene Mutation Database (HGMD®): 2003 updateHuman Mutation, 21
V. Ionasescu, C. Searby, R. Ionasescu, S. Chatkupt, N. Patel, R. Koenigsberger (1997)
Dejerine‐Sottas neuropathy in mother and son with same point mutation of PMP22 geneMuscle & Nerve, 20
VA McKusick (1998)
Mendelian Inheritance in Man
J Graw (2001)
1313Genetics, 157
A. Lalouette, J. Guénet, S. Vriz (1998)
Hotfoot mouse mutations affect the delta 2 glutamate receptor gene and are allelic to lurcher.Genomics, 50 1
C. Contet, J. Rawlins, R. Deacon (2001)
A comparison of 129S2/SvHsd and C57BL/6JOlaHsd mice on a test battery assessing sensorimotor, affective and cognitive behaviours: implications for the study of genetically modified miceBehavioural Brain Research, 124
D. Lorenzetti, C. Bishop, M. Justice (2004)
Deletion of the Parkin coregulated gene causes male sterility in the quaking(viable) mouse mutant.Proceedings of the National Academy of Sciences of the United States of America, 101 22
D. Keays, T. Clark, J. Flint (2005)
Estimating the number of coding mutations in genotypic- and phenotypic-driven N-ethyl-N-nitrosourea (ENU) screensMammalian Genome, 17
P. Oliver, E. Bitoun, Joanne Clark, E. Jones, K. Davies (2004)
Mediation of Af4 protein function in the cerebellum by Siah proteins.Proceedings of the National Academy of Sciences of the United States of America, 101 41
Daniel Garry, George Ordway, John Lorenz, Nina Radford, Eva Chin, Robert Grange, R. Bassel-Duby, R. Williams (1998)
Mice without myoglobinNature, 395
G. Chang, Y. Hao, F. Wong (1993)
Apoptosis: final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice.Neuron, 11 4
Weisheng Chen, Philippe Soriano (2003)
Gene trap mutagenesis in embryonic stem cells.Methods in enzymology, 365
J. Favor, C. Gloeckner, D. Janik, M. Klempt, A. Neuhäuser-Klaus, W. Pretsch, W. Schmahl, L. Quintanilla-Fend (2006)
Type IV procollagen missense mutations associated with defects of the eye, vascular stability, brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: An extension of the Col4a1 allelic series and the
A. Toye, L. Moir, A. Hugill, L. Bentley, J. Quarterman, V. Mijat, Tertius Hough, M. Goldsworthy, A. Haynes, A. Hunter, M. Browne, N. Spurr, R. Cox (2004)
A new mouse model of type 2 diabetes, produced by N-ethyl-nitrosourea mutagenesis, is the result of a missense mutation in the glucokinase gene.Diabetes, 53 6
C. Thaung, K. West, B. Clark, L. McKie, J. Morgan, K. Arnold, P. Nolan, J. Peters, A. Hunter, Steve Brown, I. Jackson, S. Cross (2002)
Novel ENU-induced eye mutations in the mouse: models for human eye disease.Human molecular genetics, 11 7
J. Gingrich, R. Hen (2000)
Commentary: The broken mouse: the role of development, plasticity and environment in the interpretation of phenotypic changes in knockout miceCurrent Opinion in Neurobiology, 10
M. Kono, Yide Mi, Yujing Liu, Teiji Sasaki, M. Allende, Yun-Ping Wu, T. Yamashita, R. Proia (2004)
The Sphingosine-1-phosphate Receptors S1P1, S1P2, and S1P3 Function Coordinately during Embryonic Angiogenesis*Journal of Biological Chemistry, 279
J. Graw, A. Neuhäuser-Klaus, J. Löster, N. Klopp, J. Favor (2002)
Ethylnitrosourea-induced base pair substitution affects splicing of the mouse gammaE-crystallin encoding gene leading to the expression of a hybrid protein and to a cataract.Genetics, 161 4
F. Sangiuolo, G. Novelli (2004)
Sequence-specific modification of mouse genomic DNA mediated by gene targeting techniquesCytogenetic and Genome Research, 105
A. Isaacs, K. Davies, A. Hunter, P. Nolan, L. Vizor, J. Peters, D. Gale, D. Kelsell, I. Latham, J. Chase, E. Fisher, M. Bouzyk, A. Potter, M. Masih, F. Walsh, M. Sims, K. Doncaster, C. Parsons, Joanne Martin, Steve Brown, S. Rastan, N. Spurr, I. Gray (2000)
Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategyHuman Molecular Genetics, 9
P. Glenister, Claire Thornton (2000)
Cryoconservation—archiving for the futureMammalian Genome, 11
A. Davis, M. Justice (1998)
Mouse alleles: if you've seen one, you haven't seen them all.Trends in genetics : TIG, 14 11
J. Rosenecker, S. Huth, C. Rudolph (2006)
Gene therapy for cystic fibrosis lung disease: current status and future perspectives.Current opinion in molecular therapeutics, 8 5
R. Munroe, S. Ackerman, J. Schimenti (2004)
Genomewide two-generation screens for recessive mutations by ES cell mutagenesisMammalian Genome, 15
N. Vionnet, M. Stoffel, J. Takeda, K. Yasuda, G. Bell, H. Zouali, S. Lesage, G. Velho, F. Iris, P. Passa, P. Froguel, D. Cohen (1992)
Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitusNature, 356
AP Davis (1998)
7Genetics, 148
E. Patrucco, A. Notte, L. Barberis, G. Selvetella, A. Maffei, M. Brancaccio, S. Marengo, Giovanni Russo, O. Azzolino, S. Rybalkin, L. Silengo, F. Altruda, R. Wetzker, M. Wymann, G. Lembo, E. Hirsch (2004)
PI3Kγ Modulates the Cardiac Response to Chronic Pressure Overload by Distinct Kinase-Dependent and -Independent EffectsCell, 118
J. Favor, A. Neuhäuser-Klaus (2000)
Saturation mutagenesis for dominant eye morphological defects in the mouse Mus musculusMammalian Genome, 11
J. Graw, A. Neuhäuser-Klaus, N. Klopp, P. Selby, J. Löster, J. Favor (2004)
Genetic and allelic heterogeneity of Cryg mutations in eight distinct forms of dominant cataract in the mouse.Investigative ophthalmology & visual science, 45 4
M. Hafezparast, R. Klocke, C. Ruhrberg, A. Marquardt, A. Ahmad-Annuar, S. Bowen, G. Lalli, Abi Witherden, H. Hummerich, Sharon Nicholson, P. Morgan, Ravi Oozageer, J. Priestley, S. Averill, V. King, S. Ball, J. Peters, T. Toda, A. Yamamoto, Y. Hiraoka, M. Augustin, D. Korthaus, S. Wattler, P. Wabnitz, Carmen Dickneite, S. Lampel, Florian Boehme, G. Peraus, A. Popp, M. Rudelius, J. Schlegel, H. Fuchs, M. Angelis, G. Schiavo, D. Shima, A. Russ, G. Stumm, Joanne Martin, E. Fisher (2003)
Mutations in Dynein Link Motor Neuron Degeneration to Defects in Retrograde TransportScience, 300
Jian-Dong Huang, M. Cope, V. Mermall, M. Strobel, J. Kendrick-jones, L. Russell, M. Mooseker, N. Copeland, N. Jenkins (1998)
Molecular genetic dissection of mouse unconventional myosin-VA: head region mutations.Genetics, 148 4
V. Haroutunian, P. Katsel, S. Dracheva, K. Davis (2006)
The human homolog of the QKI gene affected in the severe dysmyelination "quaking" mouse phenotype: downregulated in multiple brain regions in schizophrenia.The American journal of psychiatry, 163 10
One of the long-term goals of mutagenesis programs in the mouse has been to generate mutant lines to facilitate the functional study of every mammalian gene. With a combination of complementary genetic approaches and advances in technology, this aim is slowly becoming a reality. One of the most important features of this strategy is the ability to identify and compare a number of mutations in the same gene, an allelic series. With the advent of gene-driven screening of mutant archives, the search for a specific series of interest is now a practical option. This review focuses on the analysis of multiple mutations from chemical mutagenesis projects in a wide variety of genes and the valuable functional information that has been obtained from these studies. Although gene knockouts and transgenics will continue to be an important resource to ascertain gene function, with a significant proportion of human diseases caused by point mutations, identifying an allelic series is becoming an equally efficient route to generating clinically relevant and functionally important mouse models.
Mammalian Genome – Springer Journals
Published: May 21, 2007
Access the full text.
Sign up today, get DeepDyve free for 14 days.