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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Scnn1btm1.1Ipt
targeted mutation 1.1, Edith Hummler
MGI:2448620
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Scnn1btm1.1Ipt/Scnn1btm1.1Ipt involves: 129P2/OlaHsd * C57BL/6J * FVB/N MGI:3796438
ht2
Scnn1btm1.1Ipt/Scnn1b+ involves: 129P2/OlaHsd * C57BL/6J * FVB/N MGI:3796439


Genotype
MGI:3796438
hm1
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 (47 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

growth/size/body
• mice fed a high salt diet develop cardiac hypertrophy

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




Genotype
MGI:3796439
ht2
Allelic
Composition
Scnn1btm1.1Ipt/Scnn1b+
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 (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• mice fed a normal salt diet exhibit increased sodium reabsorption in the distal colon and low plasma aldosterone, suggesting chronic hypervolemia (high blood volume)
• systolic blood pressure is increased by 15 mmHg compared to wild-type when mice are fed a high salt diet

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

homeostasis/metabolism
• mice fed a normal salt diet exhibit lower plasma aldosterone
• mice fed a high salt diet develop hypokalemia

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





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory