C3HeB/FeJ-CrygdAey4/Ieg
| Status | Available to order |
| EMMA ID | EM:12520 |
| International strain name | C3HeB/FeJ-CrygdAey4/Ieg |
| Alternative name | Crygd-Aey4 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | CrygdAey4 |
| Gene/Transgene symbol | Crygd |
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 | A T to A exchange in exon 2 of the crystallin, gamma D encoding gene (symbol: Crygd) was demonstrated to be causative for the cataract phenotype; this particular mutation is, therefore, referred to as Crygd-Aey4. The alteration in codon 76 leads to an amino acid change of Val to Asp (V76D). 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:The slit lamp examination revealed a strong nuclear cataract surrounded by a homogenous milky opacity in the inner cortex. The histological analysis demonstrated remnants of cell nuclei throughout the entire lens.Heterozygous:The slit lamp examination revealed a strong nuclear cataract surrounded by a homogenous milky opacity in the inner cortex. The histological analysis demonstrated remnants of cell nuclei throughout the entire lens. |
| Breeding history | The mutants were kept as a homozygous line since its re-derivation from frozen sperms since 2014. |
| References |
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| 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 C3HeB/FeJ |
Disease and phenotype information
MGI allele-associated human disease models
Literature references
- V76D mutation in a conserved gD-crystallin region leads to dominant cataracts in mice.;Graw Jochen, Löster Jana, Soewarto Dian, Fuchs Helmut, Reis André, Wolf Eckhard, Balling Rudi, Hrabé de Angelis Martin, ;2002;Mammalian genome : official journal of the International Mammalian Genome Society;13;452-5; 12226711
- 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