B6J;C3H-Crybb20377/Ieg
| Status | Available to order |
| EMMA ID | EM:12507 |
| International strain name | B6J;C3H-Crybb20377/Ieg |
| Alternative name | Crybb2-O377 |
| Strain type | Induced Mutant Strains : Radiation-induced |
| Allele/Transgene symbol | Crybb20377 |
| Gene/Transgene symbol | Crybb2 |
Information from provider
| Provider | Jochen Graw |
| Provider affiliation | Institute of Developmental Genetics, Helmholtz Center Munich |
| Additional owner | Dr. Jack Favor Helmholtz Center Munich |
| Genetic information | O377 was identified as a new dominant cataract mutation in mice after radiation experiments. The mutation was mapped to chromosome 5 and characterized as an A to T substitution at the end of intron 5 of the Crybb2 gene. It led to alternative splicing with a 57-bp insertion in the mRNA and to 19 additional amino acids in the protein. 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 dominant cataract, altered sensorimotor gating, decreased number of parvalbumin-positive interneurons in the hippocampus, increased translation of input-to-output neuronal activity in the dentate gyrus, reduced number of dendrites and dendritic branches, alterations in the parvalbumin-positive cell number in the thalamic reticular nucleus.Heterozygous:Progressive dominant cataract |
| Breeding history | The original mutant, expressing progressive cataract, was recovered in the offspring of male mice exposed to 3 Gy X-ray irradiation. The presumed mutation was genetically confirmed and crossed to strain C3H/El and kept by brother x sister breeding. |
| 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 C57BL/6J |
Disease and phenotype information
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
- Novel allele of crybb2 in the mouse and its expression in the brain.;Ganguly Koustav, Favor Jack, Neuhäuser-Klaus Angelika, Sandulache Rodica, Puk Oliver, Beckers Johannes, Horsch Marion, Schädler Sandra, Vogt Weisenhorn Daniela, Wurst Wolfgang, Graw Jochen, ;2008;Investigative ophthalmology & visual science;49;1533-41; 18385073
- Crybb2 Mutations Consistently Affect Schizophrenia Endophenotypes in Mice.;Heermann Tamara, Garrett Lillian, Wurst Wolfgang, Fuchs Helmut, Gailus-Durner Valerie, Hrabě de Angelis Martin, Graw Jochen, Hölter Sabine M, ;2019;Molecular neurobiology;56;4215-4230; 30291584
- Crybb2 coding for βB2-crystallin affects sensorimotor gating and hippocampal function.;Sun Minxuan, Hölter Sabine M, Stepan Jens, Garrett Lillian, Genius Just, Kremmer Elisabeth, Hrabě de Angelis Martin, Wurst Wolfgang, Lie D Chichung, Bally-Cuif Laure, Eder Matthias, Rujescu Dan, Graw Jochen, ;2013;Mammalian genome : official journal of the International Mammalian Genome Society;24;333-48; 24096375
- Crybb2 associates with Tmsb4X and is crucial for dendrite morphogenesis.;Sun Minxuan, Ahmad Nafees, Zhang Ruobing, Graw Jochen, ;2018;Biochemical and biophysical research communications;503;123-130; 29864422