MGI phenotypes (allele matching)
C57BL/6J-Cryba2Aca30/Ieg
| Status | Available to order |
| EMMA ID | EM:05138 |
| International strain name | C57BL/6J-Cryba2Aca30/Ieg |
| Alternative name | Aca30 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Cryba2Aca30 |
| Gene/Transgene symbol | Cryba2 |
Information from provider
| Provider | Oliver Puk |
| Provider affiliation | Institut fuer Entwicklungsgenetik, AG Graw, Helmholtz Zentrum Muenchen |
| Genetic information | ENU induced Cryba2 S47P missense mutation. 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 | Aca30 is characterized by microphthalmia and microphakia with age-related cataract formation. |
| Breeding history | Incross, 10 generations. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
| Animals used for archiving | homozygous C57BL/6J, wild-type C57BL/6J |
| Stage of embryos | 2-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Early-onset anterior polar cataract / Orphanet_98988
- Early-onset nuclear cataract / Orphanet_98991
Literature references
- First mutation in the βA2-crystallin encoding gene is associated with small lenses and age-related cataracts.;Puk Oliver, Ahmad Nafees, Wagner Sibylle, Hrabé de Angelis Martin, Graw Jochen, ;2011;Investigative ophthalmology & visual science;52;2571-6; 21212184
- 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