C3.Cg-Pax67Neu/Ieg
Status | Available to order |
EMMA ID | EM:01327 |
International strain name | C3.Cg-Pax67Neu/Ieg |
Alternative name | Pax6<7Neu> / ENU642 |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Pax67Neu, |
Gene/Transgene symbol | Pax6 |
Information from provider
Provider | Jack Favor |
Provider affiliation | Institute of Human Genetics, Helmholtz Zentrum Muenchen |
Genetic information | An A to T substitution in exon 4 at nucleotide position -3, affecting the Kozak sequence. 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 | Microphthalmia, anterior pole cataract, iris anomaly, hypomorph. |
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
MGI allele-associated human disease models
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
MGI phenotypes (allele matching)
Literature references
- Molecular characterization of Pax6(2Neu) through Pax6(10Neu): an extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse Mus musculus.;Favor J, Peters H, Hermann T, Schmahl W, Chatterjee B, Neuhäuser-Klaus A, Sandulache R, ;2001;Genetics;159;1689-700; 11779807
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