IMPC phenotypes (gene matching)
B6.129-Scnn1btm1Wsh/Ph
| Status | Available to order |
| EMMA ID | EM:09859 |
| 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 0 |
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