MGI phenotypes (allele matching)
- no phenotypic analysis / MGI
C3H;C-Gjb2E119stop/H
| Status | Available to order |
| EMMA ID | EM:00424 |
| Citation information | RRID:IMSR_EM:00424 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 | 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 (gene matching)
- absent mandible / MGI
- decreased embryo size / MGI
- abnormal placenta development / MGI
- abnormal lymphatic vessel morphology / MGI
- no abnormal phenotype detected / MGI
- no phenotypic analysis / MGI
- lymphedema / MGI
- embryonic growth retardation / MGI
- decreased fetal size / MGI
- fetal growth retardation / MGI
- abnormal placental transport / MGI
- cardiovascular system phenotype / MGI
- abnormal mesenchyme morphology / MGI
- abnormal placental labyrinth vasculature morphology / MGI
- absent lymphatic vessels / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
- decreased placental labyrinth size / MGI