(101/El x C3H/El)F1-CrygbNop/Ieg
| Status | Available to order |
| EMMA ID | EM:12559 |
| International strain name | (101/El x C3H/El)F1-CrygbNop/Ieg |
| Alternative name | Cat2nop |
| Strain type | Spontaneous |
| Allele/Transgene symbol | CrygbNop, |
| Gene/Transgene symbol | Crygb |
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 on chromosome 1, gene Crygb (a 11 bp deletion combined with a 4 bp insertion in exon 3 of Crygb; frameshift at codon 139 that leads to premature termination at codon 145 and produces a truncated gene product). 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:Nuclear cataractHeterozygous:Nuclear cataract |
| Breeding history | Kept as homozygotes |
| 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
Literature references
- Allelism tests of 15 dominant cataract mutations in mice.;Kratochvilova J, Favor J, ;1992;Genetical research;59;199-203; 1511869
- Genetical and biochemical studies of a dominant cataract mutant in mice.;Graw J, Kratochvilova J, Summer K H, ;1984;Experimental eye research;39;37-45; 6479248
- Reduced levels of gamma-crystallin transcripts during embryonic development of murine Cat2nop mutant lenses.;Santhiya S T, Abd-alla S M, Löster J, Graw J, ;1995;Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie;233;795-800; 8626090
- Three murine cataract mutants (Cat2) are defective in different gamma-crystallin genes.;Klopp N, Favor J, Löster J, Lutz R B, Neuhäuser-Klaus A, Prescott A, Pretsch W, Quinlan R A, Sandilands A, Vrensen G F, Graw J, ;1998;Genomics;52;152-8; 9782080
- Altered aggregation properties of mutant gamma-crystallins cause inherited cataract.;Sandilands Aileen, Hutcheson Aileen M, Long Heather A, Prescott Alan R, Vrensen Gijs, Löster Jana, Klopp Norman, Lutz Raimund B, Graw Jochen, Masaki Shigeo, Dobson Christopher M, MacPhee Cait E, Quinlan Roy A, ;2002;The EMBO journal;21;6005-14; 12426373