- nuclear cataracts / MGI
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)
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
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).