MGI phenotypes (allele matching)
- no phenotypic analysis / MGI
C3H;C-Gjb2I128V/H
| Status | Available to order |
| EMMA ID | EM:01300 |
| International strain name | C3H;C-Gjb2I128V/H |
| Alternative name | Connexin26 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Gjb2I128V, |
| Gene/Transgene symbol | Gjb2 |
Information from provider
| Provider | Emma Coghill |
| Provider affiliation | MRC Mammalian Genetics Unit |
| Genetic information | This strain contains a Gjb2 (Cx26) mutation, A382G, Ile128Val. |
| Phenotypic information | It is possible that homozygotes are embryonic lethal. Heterozygotes can hear and appear wild-type. |
| 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
- Porokeratotic eccrine ostial and dermal duct nevus / Orphanet_166286
- Palmoplantar keratoderma-deafness syndrome / Orphanet_2202
- Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome / Orphanet_2698
- Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
- Keratoderma hereditarium mutilans / Orphanet_494
- KID syndrome / Orphanet_477
- Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635
Literature references
- A gene-driven approach to the identification of ENU mutants in the mouse.;Coghill Emma L, Hugill Alison, Parkinson Nick, Davison Claire, Glenister Peter, Clements Sian, Hunter Jackie, Cox Roger D, Brown Steve D M, ;2002;Nature genetics;30;255-6; 11850622