STOCK Scnn1btm1.1Hum/Orl
Status | Available to order |
EMMA ID | EM:04399 |
International strain name | STOCK Scnn1btm1.1Hum/Orl |
Alternative name | Scnn1b lox/lox |
Strain type | Targeted Mutant Strains : Conditional mutation |
Allele/Transgene symbol | Scnn1btm1.1Hum, |
Gene/Transgene symbol | Scnn1b |
Information from provider
Provider | Edith Hummler |
Provider affiliation | Pharmacology & Toxicology, University of Lausanne |
Genetic information | An frt-flanked neo cassette with a 3' loxP site was inserted upstream of exon 2, and an additional loxP site was inserted downstream of exon 2. Germ line, FLIP mediated recombination was used to remove the neo cassette leaving exon 2 floxed. |
Phenotypic information | No phenotype. |
References |
|
Homozygous fertile | yes |
Homozygous viable | yes |
Homozygous matings required | no |
Immunocompromised | no |
Information from EMMA
Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
Animals used for archiving | homozygous , wild-type C57BL/6N |
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
Literature references
- Conditional gene targeting of the ENaC subunit genes Scnn1b and Scnn1g.;Mérillat Anne-Marie, Charles Roch-Philippe, Porret Andrée, Maillard Marc, Rossier Bernard, Beermann Friedrich, Hummler Edith, ;2009;American journal of physiology. Renal physiology;296;F249-56; 19036848
- Loss of β Epithelial Sodium Channel Function in Meibomian Glands Produces Pseudohypoaldosteronism 1-Like Ocular Disease in Mice.;Yu Dongfang, Saini Yogesh, Chen Gang, Ghio Andrew J, Dang Hong, Burns Kimberlie A, Wang Yang, Davis Richard M, Randell Scott H, Esther Charles R, Paulsen Friedrich, Boucher Richard C, ;2018;The American journal of pathology;188;95-110; 29107074
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