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
See Article on Publisher Site

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 DevelopmentWiley

Published: Jan 1, 1998

Keywords: ; ; ; ; ;

References

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