B6J.C3H-Cnga1m1Mhda/Ieg
| Status | Available to order |
| EMMA ID | EM:14977 |
| International strain name | B6J.C3H-Cnga1m1Mhda/Ieg |
| Alternative name | Cnga1 Y509C/Y509C |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Cnga1m1Mhda, |
| Gene/Transgene symbol | Cnga1 |
Information from provider
| Provider | Martin Hrabé de Angelis |
| Provider affiliation | Institute of Experimental Genetics, Helmholtz Zentrum München |
| Genetic information | ENU-induced mutation in Cnga1 gene (Tyr509Cys): this mutation leads to the degeneration of the photoreceptors in the retina. 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:Photoreceptor degeneration.Heterozygous:No obvious phenotype. |
| Breeding history | Established Cnga1 mice (from ENU cryo-archived F1 founder male mice) were repeatedly outcrossed to C57BL/6J mice in order to eliminate unwanted ENU mutations and the Pde6brd1 mutation, which is present in C3H strains and responsible for retinal degeneration (“rd1 free”). |
| References |
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| 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 | heterozygous C57BL/6J |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Retinitis pigmentosa / Orphanet_791
Literature references
- Mutations within the cGMP-binding domain of CNGA1 causing autosomal recessive retinitis pigmentosa in human and animal model.;Kandaswamy Surabhi, Zobel Lena, John Bina, Santhiya Sathiyavedu Thyagarajan, Bogedein Jacqueline, Przemeck Gerhard K H, Gailus-Durner Valérie, Fuchs Helmut, Biel Martin, de Angelis Martin Hrabĕ, Graw Jochen, Michalakis Stylianos, Amarie Oana Veronica, ;2022;Cell death discovery;8;387; 36115851