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Phenotypes Associated with This Genotype
Genotype
MGI:3796438
Allelic
Composition
Scnn1btm1.1Ipt/Scnn1btm1.1Ipt
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scnn1btm1.1Ipt mutation (1 available); any Scnn1b mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• 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 a normal salt diet develop normally during the first 3 months of life and have normal blood pressure

homeostasis/metabolism
• mice fed a normal salt diet exhibit low plasma aldosterone
• mice fed a high salt diet develop hypokalemia accompanied by cardiac and renal hypertrophy
• mice fed a high salt diet develop metabolic alkalosis

renal/urinary system
• mice fed a high salt diet develop renal hypertrophy

digestive/alimentary system
• mice fed a normal salt diet exhibit increased sodium reabsorption in the distal colon

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Liddle syndrome DOID:0050477 OMIM:177200
J:59840


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/14/2017
MGI 6.11
The Jackson Laboratory