- abnormal eye development / MGI
- abnormal lens development / MGI
- abnormal lens vesicle development / MGI
- microphthalmia / MGI
- abnormal cornea morphology / MGI
- abnormal cornea anterior stroma morphology / MGI
- abnormal eye anterior chamber morphology / MGI
- abnormal corneal stroma morphology / MGI
- corneal vascularization / MGI
- abnormal corneal epithelium morphology / MGI
- iris hypoplasia / MGI
- abnormal Bowman membrane / MGI
- anterior iris synechia / MGI
- abnormal lens morphology / MGI
- abnormal craniofacial bone morphology / MGI
- abnormal nasal capsule morphology / MGI
- abnormal forebrain morphology / MGI
- abnormal brain commissure morphology / MGI
- abnormal optic vesicle formation / MGI
- abnormal submandibular gland morphology / MGI
- decreased circulating growth hormone level / MGI
- abnormal olfactory nerve morphology / MGI
- abnormal olfactory epithelium morphology / MGI
- submandibular gland hypoplasia / MGI
- neonatal lethality, complete penetrance / MGI
- abnormal hormone level / MGI
- abnormal pallium development / MGI
- absent pancreatic beta cells / MGI
- absent pancreatic alpha cells / MGI
- abnormal cerebellum morphology / MGI
- abnormal cerebellum vermis morphology / MGI
- abnormal cerebellum external granule cell layer morphology / MGI
- ectopic Purkinje cell / MGI
- abnormal lens induction / MGI
- abnormal cerebellar granule cell morphology / MGI
- abnormal endocrine pancreas development / MGI
- abnormal optic cup morphology / MGI
C3.Cg-Pax6Sey-Neu/Ieg
Status | Available to order |
EMMA ID | EM:01331 |
International strain name | C3.Cg-Pax6Sey-Neu/Ieg |
Alternative name | Pax6 |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Pax6Sey-Neu, |
Gene/Transgene symbol | Pax6 |
Information from provider
Provider | Jack Favor |
Provider affiliation | Institute of Human Genetics, Helmholtz Zentrum Muenchen |
Genetic information | A G to T transversion in intron 10 at the +1 position of a splice donor site. 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
- Mouse small eye results from mutations in a paired-like homeobox-containing gene.;Hill R E, Favor J, Hogan B L, Ton C C, Saunders G F, Hanson I M, Prosser J, Jordan T, Hastie N D, van Heyningen V, ;1991;Nature;354;522-5; 1684639
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