C3HeB/FeJ-Pax6ADD4802/Ieg
| Status | Available to order |
| EMMA ID | EM:12556 |
| International strain name | C3HeB/FeJ-Pax6ADD4802/Ieg |
| Alternative name | ADD4802 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Pax6ADD4802, |
| Gene/Transgene symbol | Pax6 |
Information from provider
| Provider | Paul B. Selby |
| Provider affiliation | Biology Division, Oak Ridge National Laboratory |
| 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 in chromosome 2, gene Pax6 (G-->A substitution of the first base of intron 8; additional 11 new aa). Mutation generated by N-ethyl-N-nitrosourea (ENU) 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:No homozygous mutants, they die during birthHeterozygous:Heterozygotes showed small dense white opacities in the cornea and lens |
| Breeding history | Kept as heterozygotes |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | no |
| 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
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
- Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different consequences at target promoters.;Graw Jochen, Löster Jana, Puk Oliver, Münster Doris, Haubst Nicole, Soewarto Dian, Fuchs Helmut, Meyer Birgit, Nürnberg Peter, Pretsch Walter, Selby Paul, Favor Jack, Wolf Eckhard, Hrabé de Angelis Martin, ;2005;Investigative ophthalmology & visual science;46;4671-83; 16303964