About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3664199
Allelic
Composition
Scnn1gtm1Bhk/Scnn1gtm1Bhk
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scnn1gtm1Bhk mutation (0 available); any Scnn1g mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• all distal colonic explants from postnatal mutants show low basal short circuit currents (ISC) and no response to amiloride compared to wild-type and heterozygous preparations which show significant amiloride-mediated inhibition

mortality/aging
• 6 of 20 pups died spontaneously between 24 and 36 hours of life

behavior/neurological
• from 12 hours after birth onward, homozygotes become progressively less active; at 24 hours, homozygotes are lethargic and pale

homeostasis/metabolism
• homozygous pups show an increase in serum K+ from 4 hours after birth to 24 hours (15.8 mEq/l at 4 hours to 18.3 mEq/l at 24 hours; wild-type and heterozygous pups show a decline from 12.6 to 9.7 mEq/l during this period
• homozygotes show lower serum sodium levels at 24 hours compared to wild-type and heterozygotes
• K+ concentration in urine from homozygotes is lower than that of wild-type or heterozygotes independent of urine volume at 4, 12 and 24 hours
• Na+ concentration in urine is higher in homozygotes than wild-type or heterozygotes independent of urine volume at 4, 12 and 24 hours
• bicarbonate levels in urine of homozygotes tends to be higher but differences do not reach statistical significance

renal/urinary system
• K+ concentration in urine from homozygotes is lower than that of wild-type or heterozygotes independent of urine volume at 4, 12 and 24 hours
• Na+ concentration in urine is higher in homozygotes than wild-type or heterozygotes independent of urine volume at 4, 12 and 24 hours
• bicarbonate levels in urine of homozygotes tends to be higher but differences do not reach statistical significance
• volume collected from homozygotes is lower than wild-type or heterozygous littermates at 12 and 24 hours after birth; in controls, output increases from 3.9 ul at 4 hours to 11.9 ul at 24 hours while homozygous pup output remains low (5.9 ul - 4 hours, 4.2 ul at 24 hours)

respiratory system
• wet/dry lung weights are similar between all genotypes at birth; wet/dry weight in wild-type and heterozygotes decreases at 4 hours to values comparable to 12 and 24 hour values and adult lung values while homozygotes show little change between 4 and 24 hours indicating very little water clearance from their lungs especially at 4 hours compared to littermates
• transepithelial bioelectric properties are altered in mutant epithelia; mean change of basal potential difference (PD) in tracheal epithelial explants (-5%) after amiloride treatment is less than that of wild-type explants (-24%) inhibition by amiloride
• 5/17 tracheal explants show 8-15% inhibition by amiloride

growth/size/body
• pups consistently lose weight from 12 hours after birth

integument
• at 24 hours, pups are lethargic and pale compared to controls

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive pseudohypoaldosteronism type 1 DOID:0060854 OMIM:264350
J:50528


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/14/2017
MGI 6.11
The Jackson Laboratory