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Phenotypes Associated with This Genotype
Genotype
MGI:3041878
Allelic
Composition
Kcnj1tm1Ges/Kcnj1tm1Ges
Genetic
Background
involves: 129X1/SvJ * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcnj1tm1Ges mutation (1 available); any Kcnj1 mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Kcnj1tm1Ges/Kcnj1tm1Ges mice exhibit hydronephrosis

mortality/aging
• approximately 95% of homozygotes died before 3 weeks of age; 85% of mutants died by 12 days of age, and only 5% survived to weaning
• mutans that survived to weaning almost invariably survived to adulthood, appeared slightly smaller but were healthy
• daily subcutaneous injections of either indomethacin or isotonic saline failed to prolong survival

behavior/neurological

cardiovascular system

growth/size/body
• homozygotes displayed a significant reduction in body weight and failed to thrive

hematopoietic system

homeostasis/metabolism
• adult mutants exhibited elevated blood concentrations of Na+ and Cl-
• homozygous null adult mice displayed metabolic acidosis, volume depletion, and dehydration
• the urine electrolyte excretion rate in null mutants was not significantly different from that of wild-type mice (except that chloride excretion was mildly increased), but because of the low glomerular filtration rate in the mutant animals, fractional excretions of Na+, K+, Cl-, and solutes were significantly increased relative to wild-type
• adult homozygotes displayed poor urinary concentrating ability

renal/urinary system
• the urine electrolyte excretion rate in null mutants was not significantly different from that of wild-type mice (except that chloride excretion was mildly increased), but because of the low glomerular filtration rate in the mutant animals, fractional excretions of Na+, K+, Cl-, and solutes were significantly increased relative to wild-type
• adult homozygotes displayed poor urinary concentrating ability
• homozygotes exhibited hydronephrosis prior to weaning
• the whole kidney glomerular filtration rate was reduced in null mice, to approximately 10-15% of that in wild-type mice
• the single nephron glomerular filtration rate (SNGFR) was relatively unaffected and NaCl absorption in the thick ascending limb was reduced but not eliminated
• tubuloglomerular feedback was severely impaired
• adult homozygotes displayed polyuria

integument
• homozygotes displayed poor turgor and wrinkled skin, probably due to fluid volume depletion

Mouse Models of Human Disease
OMIM ID Ref(s)
Bartter Syndrome, Type 2, Antenatal; BARTS2 241200 J:79354


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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory