STOCK Gja1tm11.1Kwi/Cnrm
| Status | Available to order |
| EMMA ID | EM:09091 |
| International strain name | STOCK Gja1tm11.1Kwi/Cnrm |
| Alternative name | B6N;129P2-Gja1tm79Kwi/Cnrm |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Gja1tm11.1Kwi, |
| Gene/Transgene symbol | Gja1 |
Information from provider
| Provider | Klaus Willecke |
| Provider affiliation | Molecular Genetics, Limes Institute |
| Genetic information | Cx43floxCx43E42K |
| Phenotypic information | Homozygous:Have not been investigatedHeterozygous:Heterozygous cardiac-restricted Cx43E42K mutated mice die neonatally without major cardiac morphological defects. Electrocardiographic recordings of embryonic Cx43+/E42K mice reveal severely disturbed ventricular activation, whereas immunohistochemical analyses show normal localization and expression patterns of gap junctional Cx43 protein in the Cx43E42K mutated newborn mouse heart. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | yes |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Autosomal dominant palmoplantar keratoderma and congenital alopecia / Orphanet_1010
- Oculodentodigital dysplasia / Orphanet_2710
- Craniometaphyseal dysplasia / Orphanet_1522
- Syndactyly type 3 / Orphanet_93404
- Erythrokeratodermia variabilis / Orphanet_317
Literature references
- Human Connexin43E42K mutation from a sudden infant death victim leads to impaired ventricular activation and neonatal death in mice.;Lübkemeier Indra, Bosen Felicitas, Kim Jung-Sun, Sasse Philipp, Malan Daniela, Fleischmann Bernd K, Willecke Klaus, ;2015;Circulation. Cardiovascular genetics;8;21-9; 25504652