IMPC phenotypes (gene matching)
STOCK Gja8No2/H
| Status | Available to order |
| EMMA ID | EM:02193 |
| Citation information | RRID:IMSR_EM:02193 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | STOCK Gja8No2/H |
| Alternative name | Nuclear Opacity 2, Gja8 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Gja8No2 |
| Gene/Transgene symbol | Gja8 |
Information from provider
| Provider | Mary Lyon |
| Provider affiliation | MRC Mammalian Genetics Unit |
| Genetic information | An A-to-C transversion in the coding region mutated codon 47. This results in the nonconservative substitution of alanine for aspartic acid in a highly conserved region of the first extracellular loop of the peptide |
| Phenotypic information | Cataract in lens nucleus, more severe in homozygotes |
| References |
|
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Pulverulent cataract / Orphanet_98984
- Isolated congenital sclerocornea / Orphanet_91490
- Cataract-microcornea syndrome / Orphanet_1377
- Early-onset sutural cataract / Orphanet_98985
- Total early-onset cataract / Orphanet_98994
- Early-onset nuclear cataract / Orphanet_98991
MGI phenotypes (allele matching)
- nuclear cataracts / MGI
MGI phenotypes (gene matching)
- abnormal eye development / MGI
- microphthalmia / MGI
- abnormal lens morphology / MGI
- cataract / MGI
- small lens / MGI
- abnormal eye morphology / MGI
- abnormal lens fiber morphology / MGI
- abnormal eye physiology / MGI
- vision/eye phenotype / MGI
- abnormal lens development / MGI
- abnormal eye electrophysiology / MGI
- ruptured lens capsule / MGI
- nuclear cataracts / MGI
- total cataracts / MGI
- vacuolated lens / MGI
Literature references
- A comparison of the dominant cataract and recessive specific-locus mutation rates induced by treatment of male mice with ethylnitrosourea.;Favor J, ;1983;Mutation research;110;367-82; 6877261
- A mutation in the connexin 50 (Cx50) gene is a candidate for the No2 mouse cataract.;Steele E C, Lyon M F, Favor J, Guillot P V, Boyd Y, Church R L, ;1998;Current eye research;17;883-9; 9746435