C3HeB/FeJ-CryaaAey7/Ieg
| Status | Available to order |
| EMMA ID | EM:12521 |
| International strain name | C3HeB/FeJ-CryaaAey7/Ieg |
| Alternative name | Cryaa-Aey7 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | CryaaAey7 |
| Gene/Transgene symbol | Cryaa |
Information from provider
| Provider | Martin Hrabé de Angelis |
| Provider affiliation | Institute of Experimental Genetics, Helmholtz Center Munich |
| Additional owner | Prof. Dr. Jochen Graw, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Institute of Developmental Genetics, Neuherberg/Germany |
| Genetic information | Mutation of a T to an A at position 371 in the Cryaa cDNA leading to replacement of Val with Glu at codon 124 (V124E) affecting the C-terminal region of the alphaA-crystallin. Disclaimer - Special restrictions: 1) Mutant development was phenotype driven. Although for some mutant lines, linkage data and the molecular characterization of the causative mutation has been published, EMMA has not genotyped the strains and can not provide genotyping protocols. 2) Some lines showed low penetrance of the phenotype. 3) Only sperm available. Rederivation service can not be offered. 4) EMMA quality control standards may not apply for these strains. 5) EMMA has not verified the breeding performance and the genetic background of the strains. The genotype/phenotype of the mice is not confirmed by INFRAFRONTIER/EMMA. We strongly recommend that the recipient confirms genotype/phenotype upon receipt. |
| Phenotypic information | Homozygous:Nuclear opacity and posterior suture anomaly were visible at eye opening and progressed to a nuclear and zonular cataract at 2 months of age. The opacity as well as the microphthalmia was more pronounced in the homozygotes than in the heterozygotes.Heterozygous:Nuclear opacity and posterior suture anomaly were visible at eye opening and progressed to a nuclear and zonular cataract at 2 months of age. The opacity as well as the microphthalmia was less pronounced in the heterozygotes than in the homozygotes. |
| Breeding history | The mutants were kept as a homozygous line since its rederivation from frozen sperms in 2014. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
| Animals used for archiving | homozygous C3H |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Cataract-microcornea syndrome / Orphanet_1377
- Early-onset anterior polar cataract / Orphanet_98988
- Early-onset lamellar cataract / Orphanet_441452
- Total early-onset cataract / Orphanet_98994
- Early-onset nuclear cataract / Orphanet_98991
Literature references
- Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene.;Graw J, Löster J, Soewarto D, Fuchs H, Meyer B, Reis A, Wolf E, Balling R, Hrabé de Angelis M, ;2001;Investigative ophthalmology & visual science;42;2909-15; 11687536
- Imbalances in the eye lens proteome are linked to cataract formation.;Schmid Philipp W N, Lim Nicole C H, Peters Carsten, Back Katrin C, Bourgeois Benjamin, Pirolt Franz, Richter Bettina, Peschek Jirka, Puk Oliver, Amarie Oana V, Dalke Claudia, Haslbeck Martin, Weinkauf Sevil, Madl Tobias, Graw Jochen, Buchner Johannes, ;2021;Nature structural & molecular biology;28;143-151; 33432246