IMPC phenotypes (gene matching)
STOCK Gja8No2/H
| Status | Available to order |
| EMMA ID | EM:02193 |
| 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