Titre du document / Document title

Mouse models of congenital cataract

Auteur(s) / Author(s)

GRAW J. ⁽¹⁾ ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

⁽¹⁾ GSF-Forschungszentrum für Umwelt und Gesundheit, Institut für Säugetiergenetik, Inglostädter Landstrasse 1, 85764 Neuherberg, ALLEMAGNE

Résumé / Abstract

Mouse mutants affecting lens development are excellent models for corresponding human disorders. The mutant aphakia has been characterised by bilaterally aphakic eyes (Varnum and Stevens, J Hered 1968;59:147-50); the corresponding gene was mapped to chromosome 19 (Varnum and Stevens, Mouse News Lett 1975;53:35). Recent investigations in our laboratory refined the linkage of 0.6 cM proximal to the marker D19Mit10. Several candidate genes have been excluded (Chukl, Fgf8, Lbp1, Npm3, Pax2, Pitx3). The Cat3 mutations are characterised by vacuolated lenses caused by alterations in the initial secondary lens fibre cell differentiation. Secondary malformations develop at the cornea and iris, but the retina remains unaffected. The mutation has been mapped to chromosome 10 close to the markers D10Mit41 and D10Mit95. Several candidate genes have been excluded (Dcn, Elk3, Ldc, Mell8, Tr2-11). The series of Cat2 mutations have been mapped close to the γ-crystallin genes (Cryg; Löster et al., Genomics 1994;23:240-2). The Cat2^nop mutation is characterised by a mutation in the third exon of Crygb leading to a truncated γB-crystallin and the termination of lens fibre cell differentiation. The Cat2 mutants are interesting models for human cataracts caused by mutations in the human CRYG genes at chromosome 2q32-35.

Revue / Journal Title

Eye   ISSN 0950-222X   CODEN EYEEEC 

Source / Source

1999, vol. 13 (3B), pp. 438-444 (88 ref.)

Langue / Language

Anglais

Editeur / Publisher

Nature Publishing Group, Basingstoke, ROYAUME-UNI  (1987) (Revue)

Mots-clés anglais / English Keywords

Cataract ; Congenital ; Animal model ; Animal ; Mouse ; Rodentia ; Mammalia ; Vertebrata ; Eye disease ; Lens disease ; Anterior segment disease ; Congenital disease ;

Mots-clés français / French Keywords

Cataracte ; Congénital ; Modèle animal ; Animal ; Souris ; Rodentia ; Mammalia ; Vertebrata ; Oeil pathologie ; Cristallin pathologie ; Segment antérieur pathologie ; Maladie congénitale ;

Mots-clés espagnols / Spanish Keywords

Catarata ; Congénito ; Modelo animal ; Animal ; Ratón ; Rodentia ; Mammalia ; Vertebrata ; Ojo patología ; Cristalino patología ; Segmento anterior patología ; Enfermedad congénita ;

Localisation / Location

INIST-CNRS, Cote INIST : 21076, 35400008571672.0060