IMPC phenotypes (gene matching)
STOCK Scnn1btm1.1Ipt/Orl
| Status | Available to order |
| EMMA ID | EM:04397 |
| 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, wild-type C57BL/6J |
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