Phenotypes Associated with This Genotype

Genotype
MGI:6198300

• Allelic Composition: Clcnkb^em1Haca/Clcnkb^em1Haca
• Genetic Background: C57BL/6-Clcnkb^em1Haca

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

growth/size/body

postnatal growth retardation ( J:259681 )

• mice are growth retarded

• mice treated with the Cox-2 inhibitor SC-236 gain body weight and reduce their growth retardation

cardiovascular system

abnormal kidney vasculature morphology ( J:259681 )

• some vascular walls are thickened in the kidney

abnormal kidney afferent arteriole morphology ( J:259681 )

• afferent arterioles appear dilated

abnormal kidney efferent arteriole morphology ( J:259681 )

• efferent arterioles appear dilated

hypovolemia ( J:259681 )

• reduction in plasma volume

hypotension ( J:259681 )

homeostasis/metabolism

decreased circulating potassium level ( J:259681 )

increased circulating renin level ( J:259681 )

• plasma renin concentration is massively increased at baseline

• mice show reduced sensitivity to furosemide, with a smaller increase in plasma renin concentration compared to wild-type mice in response to treatment

decreased circulating chloride level ( J:259681 )

• plasma chloride concentration is reduced

• however, plasma concentrations of calcium, magnesium, and phosphate are normal

increased urine chloride ion level ( J:259681 )

• increase in urinary excretion rate of chloride

increased urine potassium level ( J:259681 )

• increase in urinary excretion rate of potassium

increased urine sodium level ( J:259681 )

• increase in urinary excretion rate of sodium

• mice show compromised salt conservation during salt-restricted diet, with mice showing higher sodium excretion than wild-type mice

decreased urine osmolality ( J:259681 )

• ambient urine osmolarity is reduced

increased urine prostaglandin level ( J:259681 )

• urinary prostaglandin E2/osmolarity ratio is increased

decreased physiological sensitivity to xenobiotic ( J:259681 )

• mice show reduced sensitivity to the diuretic furosemide, excreting less urine than wild-type mice, and are completely resistant to hydrochorothiazide, showing no changes in urine volume and osmolarity

renal/urinary system

abnormal kidney vasculature morphology ( J:259681 )

• some vascular walls are thickened in the kidney

abnormal kidney afferent arteriole morphology ( J:259681 )

• afferent arterioles appear dilated

abnormal kidney efferent arteriole morphology ( J:259681 )

• efferent arterioles appear dilated

increased urine chloride ion level ( J:259681 )

• increase in urinary excretion rate of chloride

increased urine potassium level ( J:259681 )

• increase in urinary excretion rate of potassium

increased urine sodium level ( J:259681 )

• increase in urinary excretion rate of sodium

• mice show compromised salt conservation during salt-restricted diet, with mice showing higher sodium excretion than wild-type mice

decreased urine osmolality ( J:259681 )

• ambient urine osmolarity is reduced

increased urine prostaglandin level ( J:259681 )

• urinary prostaglandin E2/osmolarity ratio is increased

decreased renal glomerular filtration rate ( J:259681 )

• slightly reduced glomerular filtration rate

polyuria ( J:259681 )

• 24-hour urine volume of 6 week old mice is increased about 5 times the volume in wild-type mice

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:259681 )

N • mice show no obvious hearing deficits

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bartter disease type 3		DOID:0110144	OMIM:607364	J:259681