- no phenotypic analysis / MGI
C3H;C-Gjb2E119stop/H
Status | Available to order |
EMMA ID | EM:00424 |
International strain name | C3H;C-Gjb2E119stop/H |
Alternative name | Connexin26 |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Gjb2E119stop, |
Gene/Transgene symbol | Gjb2 |
Information from provider
Provider | Emma Coghill |
Provider affiliation | MRC Mammalian Genetics Unit |
Genetic information | This mouse line contains a Glu119STOP mutation in the Gjb2 gene, resulting from a G355T substitution. |
References | None available |
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
MGI phenotypes (allele matching)
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