IMPC phenotypes (gene matching)
STOCK Scnn1btm1.1Ipt/Orl
| Status | Available to order |
| EMMA ID | EM:04397 |
| Citation information | RRID:IMSR_EM:04397 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 Scnn1btm1.1Ipt/Orl |
| Alternative name | Liddle |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Scnn1btm1.1Ipt |
| Gene/Transgene symbol | Scnn1b |
Information from provider
| Provider | Edith Hummler |
| Provider affiliation | Pharmacology & Toxicology, University of Lausanne |
| Genetic information | The mouse model of Liddle's syndrome was created by deleting the loxP-flanked neomycin resistance cassette following the engineered stop codon at position 566. This was achieved by mating Scnn1btm1Ipt animals to cre recombinase-expressing line Tg(EIIa-cre)C5379Lmgd. Northern blot analysis of colon and kidney mRNA showed a significant decrease in gene expression in mutant animals. |
| Phenotypic information | Mice fed a high salt diet develop cardiac hypertrophy. Mice fed a normal salt diet exhibit increased sodium reabsorption in the distal colon and low plasma aldosterone, suggesting chronic hypervolemia (high blood volume). Mice fed a high salt diet develop high blood pressure. However, mice fed under normal salt diet develop normally during the first 3 months of life and have normal blood pressure. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
| Animals used for archiving | heterozygous C57BL/6 males, wild-type C57BL/6J females |
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)
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 mouse model for Liddle's syndrome.;Pradervand S, Wang Q, Burnier M, Beermann F, Horisberger J D, Hummler E, Rossier B C, ;1999;Journal of the American Society of Nephrology : JASN;10;2527-33; 10589691
- Mineralocorticoid regulation of epithelial Na+ channels is maintained in a mouse model of Liddle's syndrome.;Dahlmann Anke, Pradervand Sylvain, Hummler Edith, Rossier Bernard C, Frindt Gustavo, Palmer Lawrence G, ;2003;American journal of physiology. Renal physiology;285;F310-8; 12684224
- Dysfunction of the epithelial sodium channel expressed in the kidney of a mouse model for Liddle syndrome.;Pradervand Sylvain, Vandewalle Alain, Bens Marcelle, Gautschi Ivan, Loffing Johannes, Hummler Edith, Schild Laurent, Rossier Bernard C, ;2003;Journal of the American Society of Nephrology : JASN;14;2219-28; 12937297
- Vasopressin-stimulated CFTR Cl- currents are increased in the renal collecting duct cells of a mouse model of Liddle's syndrome.;Chang Chiz-Tzung, Bens Marcelle, Hummler Edith, Boulkroun Sheerazed, Schild Laurent, Teulon Jacques, Rossier Bernard C, Vandewalle Alain, ;2005;The Journal of physiology;562;271-84; 15513933
- 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