MGI phenotypes (allele matching)
C3.Cg-Col4a1F247/Ieg
| Status | Available to order |
| EMMA ID | EM:02236 |
| International strain name | C3.Cg-Col4a1F247/Ieg |
| Alternative name | Col4a1 |
| Strain type | Induced Mutant Strains : Radiation-induced |
| Allele/Transgene symbol | Col4a1F247, |
| Gene/Transgene symbol | Col4a1 |
Information from provider
| Provider | Jack Favor |
| Provider affiliation | Institute of Human Genetics, Helmholtz Zentrum Muenchen |
| Genetic information | Heterozygous mutants express cataract. Homozygous mutants are lethal. 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 | Eye - cataract. Brain - porencephaly. Blood vessels - hemorrhage. |
| Breeding history | Backcrossed to C3H/HeJ more than 20 generations. |
| References |
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Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
Disease and phenotype information
Literature references
- Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification of the first two Col4a2 mutant alleles.;Favor Jack, Gloeckner Christian Johannes, Janik Dirk, Klempt Martina, Neuhäuser-Klaus Angelika, Pretsch Walter, Schmahl Wolfgang, Quintanilla-Fend Leticia, ;2007;Genetics;175;725-36; 17179069