Mouse Genome Informatics
hm
    Kcnj1tm1Ges/Kcnj1tm1Ges
involves: 129X1/SvJ * Black Swiss
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
• 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 IDRef(s)
Bartter Syndrome, Antenatal, Type 2 241200 J:79354