About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:5526103
Allelic
Composition
Scnn1atm1Rss/Scnn1atm1Rss
Tg(CMV-Scnn1a)1352Rss/0
Genetic
Background
involves: 129P2/OlaHsd * NMRI
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scnn1atm1Rss mutation (1 available); any Scnn1a mutation (20 available)
Tg(CMV-Scnn1a)1352Rss mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 44% of mutants die within the first 2 weeks of life
• overall survival rate of females is lower (11%) compared with males (64%)

digestive/alimentary system
• adults exhibit lower amiloride-sensitive rectal potential difference compared to wild-type mice
• sodium transport across the rectal epithelium is decreased

growth/size/body
• mutants are smaller shortly after birth and even though rate of growth is similar to controls after the 2nd week of life, mutants continue to be smaller into adulthood

homeostasis/metabolism
• adult survivors show a compensated pesudohypoaldosteronism with normal acid/base and electrolyte values but a 6-fold elevation of plasma aldosterone
• however, serum corticosternone levels are normal
• 5 to 9 day old mutants exhibit impaired renal sodium absorption, however improvement in absorption is seen in adults
• by 5-9 days after birth, mutants show significant urinary salt-wasting [Na+] with no significant decrease in urinary potassium levels indicating abnormal renal sodium absorption
• however adults show normal sodium levels
• the urinary sodium to potassium ratio is higher in 5 to 9 day old mutants but is normal in adults
• by 5-9 days of age, mutants show metabolic acidosis
• 12 hours after birth, mutants show normal bicarbonate levels, however, in 5 to 9 day old mutants, bicarbonate levels are decreased and then normalize in adults
• 12 hours after birth, mutants show normal pH, however, pH is decreased in 5 to 9 day old mutants but then becomes normal in adults

renal/urinary system
• 5 to 9 day old mutants exhibit impaired renal sodium absorption, however improvement in absorption is seen in adults
• by 5-9 days after birth, mutants show significant urinary salt-wasting [Na+] with no significant decrease in urinary potassium levels indicating abnormal renal sodium absorption
• however adults show normal sodium levels
• the urinary sodium to potassium ratio is higher in 5 to 9 day old mutants but is normal in adults
• 12 hours after birth, mutants show normal bicarbonate levels, however, in 5 to 9 day old mutants, bicarbonate levels are decreased and then normalize in adults
• 12 hours after birth, mutants show normal pH, however, pH is decreased in 5 to 9 day old mutants but then becomes normal in adults

respiratory system
N
• mutants are able to clear fetal liquid from the air spaces at 12 hours of age and surviving adults have normal or near normal liquid absorption in the lungs

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive pseudohypoaldosteronism type 1 DOID:0060854 OMIM:264350
J:43583


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