MGI phenotypes (allele matching)
STOCK Pax2Opdc/H
| Status | Available to order |
| EMMA ID | EM:01942 |
| International strain name | STOCK Pax2Opdc/H |
| Alternative name | Opdc (GENA380) |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Pax2Opdc, |
| Gene/Transgene symbol | Pax2 |
Information from provider
| Provider | Dr Mary Lyon |
| Provider affiliation | MRC Harwell, Didcot, Oxon |
| Genetic information | A single nucleotide change, a T-to-C transition in exon 2 at position 119 causes a non-conservative missense mutation, I40T, exchanging the hydrophobic amino acid isoleucine for the nucleophilic and hydrophilic amino acid threonine. |
| Phenotypic information | Optic disc coloboma. Heterozygotes have enlarged optic discs and retinal vascular abnormalities. |
| References |
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Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Genetic steroid-resistant nephrotic syndrome / Orphanet_656
- Renal coloboma syndrome / Orphanet_1475
Literature references
- Novel ENU-induced eye mutations in the mouse: models for human eye disease.;Thaung Caroline, West Katrine, Clark Brian J, McKie Lisa, Morgan Joanne E, Arnold Karen, Nolan Patrick M, Peters Jo, Hunter A Jackie, Brown Steve D M, Jackson Ian J, Cross Sally H, ;2002;Human molecular genetics;11;755-67; 11929848
- The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.;Cross Sally H, McKie Lisa, West Katrine, Coghill Emma L, Favor Jack, Bhattacharya Shoumo, Brown Steve D M, Jackson Ian J, ;2011;Human molecular genetics;20;223-34; 20943750