IMPC phenotypes (gene matching)
B6;129P2-Scnn1btm1Ipt/Orl
| Status | Available to order |
| EMMA ID | EM:04574 |
| Citation information | RRID:IMSR_EM:04574 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;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 |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | yes |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNRS-TAAM – Typing and Archiving of Animal Models, Orléans, France |
| Animals used for archiving | heterozygous males, wild-type C57BL/6J 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
- 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
- Bone marrow monocytes and macrophages from mice lacking βENaC and ASIC2 have a reduced chemotactic migration response and polarization.;Wasson Robert, Fleming Adam B, McLin Je'la, Hildebrandt Emily, Drummond Heather A, ;2024;Physiological reports;12;e16139; 39016176
- Mice lacking ASIC2 and βENaC are protected from high-fat-diet-induced metabolic syndrome.;Hamby Madison, Stec David E, Hildebrandt Emily, Stec Donald F, Drummond Heather A, ;2024;Frontiers in endocrinology;15;1449344; 39224121