MGI phenotypes (allele matching)
B6N;129P2-Scnn1atm1Rss/Orl
| Status | Available to order |
| EMMA ID | EM:04401 |
| Citation information | RRID:IMSR_EM:04401 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 | B6N;129P2-Scnn1atm1Rss/Orl |
| Alternative name | alpha ENaC +/- |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Scnn1atm1Rss |
| Gene/Transgene symbol | Scnn1a |
Information from provider
| Provider | Edith Hummler |
| Provider affiliation | Pharmacology & Toxicology, University of Lausanne |
| Genetic information | A genomic fragment containing part of exon 1 and sequences encoding the first transmembrane loop and most of the ectocytoplasmic loop was replaced with a neomycin selection cassette. RT-PCR analysis on samples derived from lung, liver and kidney tissue of homozygous mice confirmed that no detectable transcript is produced from this allele. |
| Phenotypic information | -/- pups die within 48h after birth. Respiratory distress. Na+ loss. |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNRS-TAAM – Typing and Archiving of Animal Models, Orléans, France |
| Animals used for archiving | heterozygous C57BL/6N males, wild-type C57BL/6N females |
| Stage of embryos | 2-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Generalized pseudohypoaldosteronism type 1 / Orphanet_171876
- Liddle syndrome / Orphanet_526
- Idiopathic bronchiectasis / Orphanet_60033
- Brugada syndrome / Orphanet_130
Literature references
- Early death due to defective neonatal lung liquid clearance in alpha-ENaC-deficient mice.;Hummler E, Barker P, Gatzy J, Beermann F, Verdumo C, Schmidt A, Boucher R, Rossier B C, ;1996;Nature genetics;12;325-8; 8589728