Access the full text.
Sign up today, get DeepDyve free for 14 days.
H Grüneberg (1935)
A new sub-lethal colour mutation in the house mouseProc R Soc Lond (Biol), 118
JA Calvert, SG Dedos, K Hawker, M Fleming, MA Lewis, KP Steel (2011)
A missense mutation in Fgfr1 causes ear and skull defects in hush puppy miceMamm Genome, 22
H Ida-Yonemochi, T Saku (2002)
No developmental failure of cultured tooth germs from osteopetrotic (op/op) miceJ Oral Pathol Med, 31
PN Kantaputra, S Thawanaphong, W Issarangporn, P Klangsinsirikul, A Ohazama, P Sharpe, C Supanchart (2012)
Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7Am J Med Genet A, 158
JW Drake, B Charlesworth, D Charlesworth, JF Crow (1998)
Rates of spontaneous mutationGenetics, 48
I Barbaric, MJ Perry, TN Dear, A Rodrigues Da Costa, D Salopek, A Marusic, T Hough, S Wells, AJ Hunter, M Cheeseman, SD Brown (2008)
An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant YodaPhysiol Genomics, 32
JM Hilton, MA Lewis, M Grati, N Ingham, S Pearson, RA Laskowski, DJ Adams, KP Steel (2011)
Exome sequencing identifies a missense mutation in Isl1 associated with low penetrance otitis media in dearisch miceGenome Biol, 12
BM Smits, TA Peters, JD Mul, HJ Croes, JA Fransen, AJ Beynon, V Guryev, RH Plasterk, E Cuppen (2005)
Identification of a rat model for Usher syndrome type 1B by N-ethyl-N-nitrosourea mutagenesis-driven forward geneticsGenetics, 170
J Vacher, H Bernard (1999)
Genetic localization and transmission of the mouse osteopetrotic grey-lethal mutationMamm Genome, 10
(Salinger AP, Justice MJ (2008) Mouse mutagenesis using N-ethyl-N-nitrosourea (ENU). CSH Protoc. 2008:pdb.prot4985, doi: 10.1101/pdb.prot4985)
Salinger AP, Justice MJ (2008) Mouse mutagenesis using N-ethyl-N-nitrosourea (ENU). CSH Protoc. 2008:pdb.prot4985, doi: 10.1101/pdb.prot4985Salinger AP, Justice MJ (2008) Mouse mutagenesis using N-ethyl-N-nitrosourea (ENU). CSH Protoc. 2008:pdb.prot4985, doi: 10.1101/pdb.prot4985, Salinger AP, Justice MJ (2008) Mouse mutagenesis using N-ethyl-N-nitrosourea (ENU). CSH Protoc. 2008:pdb.prot4985, doi: 10.1101/pdb.prot4985
MH Hrabe de 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, E Fuchs, H Kolb, E Kremmer, K Schaeble, B Rollinski, A Roscher, C Peters, T Meitinger, T Strom, T Steckler, F Holsboer, T Klopstock, F Gekeler, C Schindewolf, T 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 mutagenesisNat Genet, 25
U Kornak, D Kasper, MR Bösl, E Kaiser, M Schweizer, A Schulz, W Friedrich, G Delling, TJ Jentsch (2001)
Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and manCell, 26
EA Bosman, AC Penn, JC Ambrose, R Kettleborough, DL Stemple, KP Steel (2005)
Multiple mutations in mouse Chd7 provide models for CHARGE syndromeHum Mol Genet, 14
J Carolino, JA Perez, A Popa (1998)
OsteopetrosisAm Fam Physician, 57
SG Kahler, JA Burns, AS Aylsworth (1984)
A mild autosomal recessive form of osteopetrosisAm J Med Genet, 17
VL Sanger, TN Fredrickson, CC Morrill, BR Burmester (1966)
Pathogenesis of osteopetrosis in chickensAm J Vet Res, 21
EA Bosman, E Quint, H Fuchs, M Hrabe de Angelis, KP Steel (2009)
Catweasel mice: a novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndromeDev Biol, 328
N Chalhoub, N Benachenhou, V Rajapurohitam, M Pata, M Ferron, A Frattini, A Villa, J Vacher (2003)
Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and humanNat Med, 9
A Pangrazio, PL Poliani, A Megarbane, G Lefranc, E Lanino, M Rocco, F Rucci, F Lucchini, M Ravanini, F Facchetti, M Abinun, P Vezzoni, A Villa, A Frattini (2006)
Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvementJ Bone Miner Res, 21
NA Meadows, SM Sharma, GJ Faulkner, MC Ostrowski, DA Hume, AI Cassady (2007)
The expression of Clcn7 and Ostm1 in osteoclasts is coregulated by microphthalmia transcription factorJ Biol Chem, 282
N Ochotny, AM Flenniken, C Owen, I Voronov, RA Zirngibl, LR Osborne, JE Henderson, SL Adamson, J Rossant, MF Manolson, JE Aubin (2011)
The V-ATPase a3 subunit mutation R740S is dominant negative and results in osteopetrosis in miceJ Bone Miner Res, 26
Large-scale N-ethyl-N-nitrosourea (ENU) mutagenesis has provided many rodent models for human disease. Here we describe the initial characterization and mapping of a recessive mutation that leads to degeneration of the incisors, failure of molars to erupt, a grey coat colour, and mild osteopetrosis. We mapped the omi mutation to chromosome 10 between D10Mit214 and D10Mit194. The Ostm1 gene is a likely candidate gene in this region and the grey-lethal allele, Ostm1 gl , and omi mutations fail to complement each other. We show that om/om mice have reduced levels of Ostm1 protein. To date we have not been able to identify the causative mutation. We propose that omi is a novel hypomorphic mutation affecting Ostm1 expression, potentially in a regulatory element.
Mammalian Genome – Springer Journals
Published: Nov 17, 2012
Access the full text.
Sign up today, get DeepDyve free for 14 days.