Aphakia (ak), a mouse mutation affecting early eye development: Fine mapping, consideration of candidate genes and altered Pax6 and Six3 gene expression pattern

Aphakia (ak), a mouse mutation affecting early eye development: Fine mapping, consideration of... The homozygous mouse mutant aphakia (ak) has been characterized by bilaterally aphakic eyes without a pupil [Varnum DS, Stevens, LC (1968): J Hered 59:147–150]. The mutation was mapped to chromosome 19 [Varnum DS, Stevens, LC (1975): Mouse News Lett 53:35]. Our linkage studies yielded a precise localization of the ak gene 0.6 ± 0.3 cM proximal to the microsatellite marker D19Mit10 and 0.7 ± 0.4 cM distal to D19Mit4 and D19Mit91. No recombination was found with the marker D19Mit9 among 418 backcross offspring tested. The developmental control gene Pax2 mapped 11.0 ± 3.5 cM proximal to ak and is excluded as a candidate gene. Sequence analysis of Fgf8 and Chuk1, which are localized close to the marker D19Mit10, detected no mutations in the ak/ak mutants. Histological analysis of homozygous mutants suggested the arrest of lens development at the lens stalk stage, a transient morphological structure during the formation of the lens vesicle. In the lens remnants, Pax6 and Six3 are expressed, whereas in the persisting lens stalk only Pax6 was detected. The expression pattern of Pax2 appeared normal; Cryaa expression could not be detected. As a consequence of the arrested lens development, other ocular tissues that require for their development information from the intact lens, such as iris, ciliary muscle, retina, and vitreous body, are absent or formed abnormally. Dev. Genet. 23:299–316, 1998. © 1998 Wiley‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Genesis: the Journal of Genetics and Development Wiley

Aphakia (ak), a mouse mutation affecting early eye development: Fine mapping, consideration of candidate genes and altered Pax6 and Six3 gene expression pattern

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Publisher
Wiley
Copyright
"Copyright © 1998 Wiley Subscription Services, Inc., A Wiley Company"
ISSN
1526-954X
eISSN
1526-968X
DOI
10.1002/(SICI)1520-6408(1998)23:4<299::AID-DVG5>3.0.CO;2-G
Publisher site
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Abstract

The homozygous mouse mutant aphakia (ak) has been characterized by bilaterally aphakic eyes without a pupil [Varnum DS, Stevens, LC (1968): J Hered 59:147–150]. The mutation was mapped to chromosome 19 [Varnum DS, Stevens, LC (1975): Mouse News Lett 53:35]. Our linkage studies yielded a precise localization of the ak gene 0.6 ± 0.3 cM proximal to the microsatellite marker D19Mit10 and 0.7 ± 0.4 cM distal to D19Mit4 and D19Mit91. No recombination was found with the marker D19Mit9 among 418 backcross offspring tested. The developmental control gene Pax2 mapped 11.0 ± 3.5 cM proximal to ak and is excluded as a candidate gene. Sequence analysis of Fgf8 and Chuk1, which are localized close to the marker D19Mit10, detected no mutations in the ak/ak mutants. Histological analysis of homozygous mutants suggested the arrest of lens development at the lens stalk stage, a transient morphological structure during the formation of the lens vesicle. In the lens remnants, Pax6 and Six3 are expressed, whereas in the persisting lens stalk only Pax6 was detected. The expression pattern of Pax2 appeared normal; Cryaa expression could not be detected. As a consequence of the arrested lens development, other ocular tissues that require for their development information from the intact lens, such as iris, ciliary muscle, retina, and vitreous body, are absent or formed abnormally. Dev. Genet. 23:299–316, 1998. © 1998 Wiley‐Liss, Inc.

Journal

Genesis: the Journal of Genetics and Development – Wiley

Published: Jan 1, 1998

Keywords: ; ; ; ; ;

References

  • Lens aplasia: A new mutation producing lens abnormality in the mouse
    Aso, S; Horiwaki, S‐I; Noda, S
  • Studies on an anophthalmic strain of mice. IV. A second major gene for anophthalmia
    Chase, HB
  • Chuk, a new member of the helix‐loop‐helix and leucine zipper families of interacting proteins, contains a serine‐threonine kinase catalytic domain
    Connelly, MA; Marcu, KB
  • Cataractogenesis: Developmental inputs and considerations
    Coulombre, AJ
  • The mouse Fgf8 gene encodes a family of polypeptides and is expressed in regions that direct outgrowth and patterning in the developing embryo
    Crossley, PH; Martin, GR
  • Lens development and crystallin gene expression: Many roles for Pax‐6
    Cvekl, A; Piatigorsky, J
  • The mouse Pax21Neu mutation is identical to a human PAX2 mutation in a family with renal‐coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney
    Favor, J; Sandulache, R; Neuhäuser‐Klaus, A; Pretsch, W; Chatterjee, B; Senft, E; Wurst, W; Blanquet, V; Grimes, P; Spörle, R; Schughart, K
  • The mouse Cat4 locus maps to chromosome 8 and mutants express lens‐corneal adhesion
    Favor, J; Grimes, P; Neuhäuser‐Klaus, A; Pretsch, W; Stambolian, D
  • Perspectives on eye development
    Fini, ME; Strissel, KJ; West‐Mays, JA
  • Defining intermediate stages in cell determination: Acquisition of a lensforming bias in head ectoderm during lens determination
    Grainger, RM; Mannion, JE; Cook, TL; Zygar, CA
  • Genetic aspects of embryonic eye development in vertebrates
    Graw, J
  • The crystallins: Genes, proteins and diseases
    Graw, J
  • Development of the vertebrate cornea
    Hay, ED
  • Mouse Small eye results from mutations in a paired‐like homeoboxcontaining gene
    Hill, RE; Favor, J; Hogan, BLM; Ton, CCT; Saunders, GF; Hanson, IM; Prosser, J; Jordan, T; Hastie, ND; Van Heyningen, V
  • Small eye (Sey): A mouse model for the genetic analysis of craniofacial abnormalities
    Hogan, BL; Hirst, EM; Horsburgh, G; Hetherington, CM
  • Inductive processes in embryonic development
    Jacobson, AG
  • Congenital aphakia: A clinicopathological report of three cases
    Johnson, BL; Cheng, KP
  • The use of 33P‐labelled riboprobes for in situ hybridizations: Localization of myosin alkali light‐chain mRNAs in adult human skeletal muscle
    Jostarndt, K; Puntschart, A; Hoppeler, H; Billeter, R
  • Targeted ablation of a‐crystallin‐synthesizing cells produces lensdeficient eyes in transgenic mice
    Kaur, S; Key, B; Stock, J; McNeish, JD; Akeson, R; Potter, SS
  • A new inbred strain FJ1 established from Japanese fancy mouse carrying the classic piebald allele
    Koide, T; Moriwaki, K; Uchida, K; Mita, A; Sagai, T; Yonekawa, H; Katoh, H; Miyashita, N; Tsuchiya, K; Nielsen, TJ; Shiroishi, T
  • The Pax‐6 homeobox gene is expressed throughout the corneal and conjunctival epithelia
    Koroma, BM; Yang, J‐M; Sundin, OH
  • Expression of crystallins, Pax6, filensin, CP49, MIP, and MP20 in lens‐derived cell lines
    Krausz, E; Augusteyn, RC; Quinlan, RA; Reddan, JR; Russell, P; Sax, CM; Graw, J
  • Lens complementation system for the genetic analysis of growth, differentiation, and apoptosis in vivo
    Liégeois, NJ; Horner, JW; de Pinho, RA
  • Mouse chromosome atlas
    Lyon, MF; Cocking, Y; Gao, X
  • The Development of the Human Eye
    Mann, I
  • A study of the effect of mutant genes on crystallin synthesis in the developing mouse lens. III. Gene aphakia
    Malinina, NA; Konyukohov, BV
  • Characterization and developmental expression of Pax9, a paired‐box‐containing gene related to Pax1
    Neubüser, A; Koseki, H; Balling, R
  • Spatially and temporally restricted expression of Pax2 during murine neurogenesis
    Nornes, HO; Dressler, GR; Knapik, EW; Deutsch, U; Gruss, P
  • Current views on eye development
    Oliver, G; Gruss, P
  • Six3, a murine homologue of the sine oculis gene, demarcates the most anterior border of the developing neural plate and is expressed during eye development
    Oliver, G; Mailhos, A; Wehr, R; Copeland, NG; Jenkins, NA; Gruss, P
  • Ectopic lens induction in fish in response to the murine homeobox gene Six3
    Oliver, G; Loosli, F; Köster, R; Wittbrodt, J; Gruss, P
  • 1998 Chromosome Committee Report: Chromosome 19. Mouse Genome Database (MGD), Mouse Genome Informatics
    Poirier, C; Guenet, J‐L
  • Differential expression of αA‐ and βB‐crystallin during murine ocular development
    Robinson, ML; Overbeek, PA
  • Reduced levels of γ‐crystallin transcripts during embryonic development of murine Cat2nop mutant lenses
    Santhiya, ST; Abd‐alla, SM; Löster, J; Graw, J
  • Dysgenetic lens (dyl)–a new gene in the mouse
    Sanyal, S; Hawkins, RK
  • Map position of dysgenetic lens (dyl) locus on chromosome 4 in the mouse
    Sanyal, S; Van Nie, R; de Moes, J; Hawkins, RK
  • Isolation of a new homeobox gene belonging to the Pitx/Rieg family: Expression during lens development and mapping to the aphakia region on mouse chromosome 19
    Semina, EV; Reiter, RS; Murray, JC
  • Über Organisatoren in der tierischen Entwicklung
    Spemann, H
  • NF‐κB activation: The IκB kinase revealed?
    Stancovski, I; Baltimore, D
  • Linkage mapping of the Thiel‐Behnke corneal dystrophy (CDTB) to chromosome 10q23–q24
    Sullivan, LS; Daiger, SP; Khan, MN; Lai, HT; Lu, Y; Yee, RW
  • Cloning and characterization of an androgeninduced growth factor essential for the androgen‐dependent growth of mouse mammary carcinoma cells
    Tanaka, A; Miyamoto, K; Minamino, N; Takeda, M; Sato, B; Matsuo, H; Matsumoto, K
  • The MEV mouse linkage testing stock: Mapping 30 novel proviral insertions and establishment of an improved stock
    Taylor, BA; Rowe, L; Grieco, DA
  • Development of Coloboma (Cm/1), a mutation with anterior lens adhesion
    Theiler, K; Varnum, DS
  • Pax2 contributes to inner ear patterning and optic nerve trajectory
    Torres, M; Gomez‐Pardo, E; Gruss, P
  • Aphakia, a new mutation in the mouse
    Varnum, DS; Stevens, LC
  • Report from the Jackson Lab
    Varnum, DS; Stevens, LC
  • Primary congenital aphakia and the rubella syndrome
    Vermeij‐Keers, C
  • Pax‐6, a murine paired box gene, is expressed in the developing CNS
    Walther, C; Gruss, P
  • Abnormal accumulation of sulphated materials in lens tissue of mice with the aphakia mutation
    Webster, EH; Zwaan, J; Cooper, P
  • An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D‐loop region
    Zeviani, M; Servidei, S; Gellera, C; Bertini, E; DiMauro, S; DiDonato, S
  • Immunofluorescent studies on aphakia, a mutation of a gene involved in the control of lens differentiation in the mouse embryo
    Zwaan, J
  • Malorientation of mitotic figures in the early lens rudiment of aphakia mouse embryos
    Zwaan, J; Kirkland, BM
  • Histochemical analysis of extracellular matrix material during embryonic mouse lens morphogenesis in an aphakic strain of mice
    Zwaan, J; Webster, EH
  • Localization of keratin in the cells of the cornea in aphakia and normal mouse embryos
    Zwaan, J; Webster, EH

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