MGI phenotypes (allele matching)
C3HeB/FeJ-Pax6Aey80/Ieg
| Status | Available to order |
| EMMA ID | EM:08175 |
| International strain name | C3HeB/FeJ-Pax6Aey80/Ieg |
| Alternative name | Pax6 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Pax6Aey80, |
| Gene/Transgene symbol | Pax6 |
Information from provider
| Provider | Helmut Fuchs |
| Provider affiliation | Institute of Experimental Genetics, Helmholtz Center Munich |
| Genetic information | Small eye mutant; ENU-induced; dominant mode of inheritance; homozygous lethal; mutation affects Pax6 gene, intron 7: G->A at pos 1171; additional exon of 141 bp. 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:Lethal; they die perinatally.Heterozygous:small eye |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| 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 C3HeB/FeJ |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Isolated aniridia / Orphanet_250923
- Autosomal dominant keratitis / Orphanet_2334
- Coloboma of eyelid / Orphanet_98946
- Coloboma of optic disc / Orphanet_98947
- Peters anomaly / Orphanet_708
- Coloboma of iris / Orphanet_98944
- Coloboma of macula / Orphanet_98945
- Coloboma of choroid and retina / Orphanet_98942
- Isolated optic nerve hypoplasia/aplasia / Orphanet_137902
- Coloboma of eye lens / Orphanet_98943
- Foveal hypoplasia-presenile cataract syndrome / Orphanet_2253
- Aniridia-cerebellar ataxia-intellectual disability syndrome / Orphanet_1065
Literature references
- Novel small-eye allele in paired box gene 6 (Pax6) is caused by a point mutation in intron 7 and creates a new exon.;Puk Oliver, Yan Xiaohe, Sabrautzki Sibylle, Fuchs Helmut, Gailus-Durner Valérie, Hrabě de Angelis Martin, Graw Jochen, ;2013;Molecular vision;19;877-84; 23592925