B6;129P2-Scnn1btm1Ipt/Orl
| Status | Available to order |
| EMMA ID | EM:04574 |
| International strain name | B6;129P2-Scnn1btm1Ipt/Orl |
| Alternative name | PHA beta mouse |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Scnn1btm1Ipt, |
| Gene/Transgene symbol | Scnn1b |
Information from provider
| Provider | Edith Hummler |
| Provider affiliation | Pharmacology & Toxicology, University of Lausanne |
| Genetic information | A stop codon followed by a loxP-flanked neomycin resistance cassette was inserted at a position corresponding to residue Arg566 in the human gene. Northern blot analysis on colon, kidney and lung RNA revealed that low levels (1-4%) of a truncated transcript was expressed from this allele. (Pradervand S. et al., Proc Natl Acad Sci U S A 1999). |
| Phenotypic information | Pseudohypoaldosteronism type 1. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | yes |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
| Animals used for archiving | heterozygous 0, wild-type C57BL/6J |
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
- A direct relationship between plasma aldosterone and cardiac L-type Ca2+ current in mice.;Perrier Romain, Richard Sylvain, Sainte-Marie Yannis, Rossier Bernard C, Jaisser Frederic, Hummler Edith, Bénitah Jean-Pierre, ;2005;The Journal of physiology;569;153-62; 16166161
- beta-Liddle mutation of the epithelial sodium channel increases alveolar fluid clearance and reduces the severity of hydrostatic pulmonary oedema in mice.;Randrianarison Nadia, Escoubet Brigitte, Ferreira Chrystophe, Fontayne Alexandre, Fowler-Jaeger Nicole, Clerici Christine, Hummler Edith, Rossier Bernard C, Planès Carole, ;2007;The Journal of physiology;582;777-88; 17430990
- Salt restriction induces pseudohypoaldosteronism type 1 in mice expressing low levels of the beta-subunit of the amiloride-sensitive epithelial sodium channel.;Pradervand S, Barker P M, Wang Q, Ernst S A, Beermann F, Grubb B R, Burnier M, Schmidt A, Bindels R J, Gatzy J T, Rossier B C, Hummler E, ;1999;Proceedings of the National Academy of Sciences of the United States of America;96;1732-7; 9990093