C3HeB/FeJ-Crybb2Aey2/Ieg
| Status | Available to order |
| EMMA ID | EM:12554 |
| International strain name | C3HeB/FeJ-Crybb2Aey2/Ieg |
| Alternative name | Aey2 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Crybb2Aey2 |
| Gene/Transgene symbol | Crybb2 |
Information from provider
| Provider | Jana Löster (formerly Kratochvilova) |
| Provider affiliation | Institut of Mammalian Genetics, Helmholtz Zentrum München |
| Additional owner | Prof. Dr. Jochen Graw, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Institute of Developmental Genetics, Neuherberg/Germany |
| Genetic information | Dominant mutation in chromosome 5, gene Crybb2 (T553A ; Val187Glu).
Mutation generated by N-ethyl-N-nitrosourea (ENU) 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:Progressive childhood cataract.Heterozygous:Progressive childhood cataract. |
| Breeding history | Kept as homozygous line. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | not known |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Cataract-microcornea syndrome / Orphanet_1377
- Early-onset posterior subcapsular cataract / Orphanet_441447
- Cerulean cataract / Orphanet_98989
- Pulverulent cataract / Orphanet_98984
- Early-onset sutural cataract / Orphanet_98985
- Total early-onset cataract / Orphanet_98994
- Early-onset nuclear cataract / Orphanet_98991
Literature references
- Aey2, a new mutation in the betaB2-crystallin-encoding gene of the mouse.;Graw J, Löster J, Soewarto D, Fuchs H, Reis A, Wolf E, Balling R, Hrabé de Angelis M, ;2001;Investigative ophthalmology & visual science;42;1574-80; 11381063
- 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