IMPC phenotypes (gene matching)
STOCK Scnn1btm1.1Hum/Orl
| Status | Available to order |
| EMMA ID | EM:04399 |
| Citation information | RRID:IMSR_EM:04399 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 | 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 | 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
MGI phenotypes (gene matching)
- decreased body weight / MGI
- cardiac hypertrophy / MGI
- abnormal digestive system physiology / MGI
- abnormal kidney morphology / MGI
- no abnormal phenotype detected / MGI
- increased circulating aldosterone level / MGI
- decreased circulating aldosterone level / MGI
- increased circulating chloride level / MGI
- alkalosis / MGI
- hypokalemia / MGI
- salt-sensitive hypertension / MGI
- respiratory system phenotype / MGI
- increased circulating potassium level / MGI
- decreased circulating sodium level / MGI
- increased systemic arterial systolic blood pressure / MGI
- abnormal urine homeostasis / MGI
- hypervolemia / MGI
- postnatal lethality, complete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
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