IMPC phenotypes (gene matching)
B6.129-Scnn1btm1Wsh/Ph
| Status | Available to order |
| EMMA ID | EM:09859 |
| Citation information | RRID:IMSR_EM:09859 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-Scnn1btm1Wsh/Ph |
| Alternative name | bmENaC |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Scnn1btm1Wsh |
| Gene/Transgene symbol | Scnn1b |
Information from provider
| Provider | Michael Welsh |
| Provider affiliation | Pappajohn Biomedical Institute, The University of Iowa |
| Additional owner | Prof. Michael Welsh, The University of Iowa, Iowa City, USA and Prof. Fiona McDonald, University of Otaga, Dunedin, New Zealand |
| Genetic information | The bmENaC (Scnn1b) targeting vector was introduced into R1 ES cells by electroporation, and surviving G418 and ganciclovir resistant clones were screened by Southern blotting. |
| Phenotypic information | Homozygous:The bENaC-deficient mice (-/-) show normal prenatal development but die within 2 days after birth, most likely of hyperkalemia. The phenotype of the bENaC-deficient mice is similar to that of humans with pseudohypoaldosteronism type 1.Heterozygous:The bENaC heterozygous mice (+/-) are viable and fertile. |
| Breeding history | The line was maintained by crossing bmENaC +/- with bmENaC +/- or by crossing bmENaC +/- with wild-type (C57BL/6) mice. |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Institute of Molecular Genetics, Prague, Czech Republic |
| Animals used for archiving | heterozygous males |
Disease and phenotype information
MGI allele-associated human disease models
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 (allele matching)
- decreased body weight / MGI
- increased circulating aldosterone level / MGI
- increased circulating chloride level / MGI
- respiratory system phenotype / MGI
- increased circulating potassium level / MGI
- decreased circulating sodium level / MGI
- abnormal urine homeostasis / MGI
- neonatal lethality, complete penetrance / MGI
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
- Disruption of the beta subunit of the epithelial Na+ channel in mice: hyperkalemia and neonatal death associated with a pseudohypoaldosteronism phenotype.;McDonald F J, Yang B, Hrstka R F, Drummond H A, Tarr D E, McCray P B, Stokes J B, Welsh M J, Williamson R A, ;1999;Proceedings of the National Academy of Sciences of the United States of America;96;1727-31; 9990092