B6.SW-Crybb2Phil/Ieg
| Status | Available to order |
| EMMA ID | EM:12514 |
| International strain name | B6.SW-Crybb2Phil/Ieg |
| Alternative name | Crybb2-Phil/G (Philly) |
| Strain type | Spontaneous |
| Allele/Transgene symbol | Crybb2Phil, |
| Gene/Transgene symbol | Crybb2 |
Information from provider
| Provider | Jochen Graw |
| Provider affiliation | Institute of Developmental Genetics, Helmholtz Center Munich |
| Additional owner | Prof. Dr. Melinda Duncan Department of Biological Sciences University of Delaware Newark, USA |
| Genetic information | A 12 bp in-frame deletion in the coding region of the Crybb2 gene resulted in the absence of amino acids 203-206 of the encoded 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:dominant cataractHeterozygous:dominant cataract |
| Breeding history | In 2006, Philly-mice on the C57BL/6NHsd background were imported from the University of Delaware (USA) into the Helmholtz Center Munich (Germany) and kept till 2019 by brother x sister mating. |
| 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
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
- 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
- Philly mouse: a new model of hereditary cataract.;Kador P F, Fukui H N, Fukushi S, Jernigan H M, Kinoshita J H, ;1980;Experimental eye research;30;59-68; 7363969
- Deletion mutation in an eye lens beta-crystallin. An animal model for inherited cataracts.;Chambers C, Russell P, ;1991;The Journal of biological chemistry;266;6742-6; 1707874
- Differential synthesis and degradation of protein in the hereditary Philly mouse cataract.;Piatigorsky J, Kador P F, Kinoshita J H, ;1980;Experimental eye research;30;69-78; 6767618
- Subfertility in mice harboring a mutation in betaB2-crystallin.;Duprey Kevin M, Robinson Kimberly M, Wang Yan, Taube Jennifer R, Duncan Melinda K, ;2007;Molecular vision;13;366-73; 17392687