MGI phenotypes (gene matching)
B6;129-Scnn1atm1.1Hum/Orl
| Status | Available to order |
| EMMA ID | EM:04398 |
| Citation information | RRID:IMSR_EM:04398 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 | B6;129-Scnn1atm1.1Hum/Orl |
| Alternative name | Scnn1a lox/lox |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Scnn1atm1.1Hum |
| Gene/Transgene symbol | Scnn1a |
Information from provider
| Provider | Edith Hummler |
| Provider affiliation | Pharmacology & Toxicology, University of Lausanne |
| Genetic information | Exon 1 of the gene was flanked by an upstream loxP site and a downstream floxed neo cassette. Expression of Cre recombinase in ES cells resulted in the excision of the floxed neo cassette, leaving exon 1 surrounded by single loxP sites. Expression analysis showed that transcript levels were normal. |
| Phenotypic information | No phenotype. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| 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 | homozygous males, wild-type C57BL/6N females |
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
- Conditional gene targeting of the Scnn1a (alphaENaC) gene locus.;Hummler Edith, Mérillat Anne-Marie, Rubera Isabelle, Rossier Bernard C, Beermann Friedrich, ;2002;Genesis (New York, N.Y. : 2000);32;169-72; 11857811
- Endothelial ENaC-α Restrains Oxidative Stress in Lung Capillaries in Murine Pneumococcal Pneumonia-associated Acute Lung Injury.;Romero Maritza J, Yue Qian, Ahn Won Mo, Hamacher Jürg, Zaidi Yusra, Haigh Stephen, Sridhar Supriya, Gonzales Joyce, Hudel Martina, Huo Yuqing, Verin Alexander D, Pace Betty S, Stansfield Brian K, Maishan Mazharul, Neptune Enid R, Enkhbaatar Perenlei, Su Yunchao, Chakraborty Trinad, Gonsalvez Graydon, Hummler Edith, Davis William B, Bogdanov Vladimir Y, Fulton David J R, Csanyi Gabor, Matthay Michael A, Eaton Douglas C, Lucas Rudolf, ;2025;American journal of respiratory cell and molecular biology;72;429-440; 39405473