Phenotypes associated with this allele

• Allele Symbol: Clcnkb^tm1.1Doel
• Allele Name: targeted mutation 1.1, Dominique Eladari
• Allele ID: MGI:6164675
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Clcnkb^tm1.1Doel/Clcnkb^tm1.1Doel	involves: 129S1/Sv * 129X1/SvJ	MGI:6200350

Genotype
MGI:6200350

hm1

• Allelic Composition: Clcnkb^tm1.1Doel/Clcnkb^tm1.1Doel
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

premature death ( J:259639 )

• reduced survival with a half-life of about 5-6 weeks

growth/size/body

postnatal growth retardation ( J:259639 )

renal/urinary system

renal/urinary system phenotype ( J:259639 )

N • do not display hypercalciuria unlike in some human patients

abnormal urine homeostasis ( J:259639 )

increased urine magnesium level ( J:259639 )

decreased urine osmolality ( J:259639 )

increased urine prostaglandin level ( J:259639 )

• elevated PGE2 levels in the urine

abnormal juxtaglomerular apparatus morphology ( J:259639 )

• hypertrophy

juxtaglomerular cell hyperplasia ( J:259639 )

• proliferation of renin-secreting cells with renin expressing cells extending into the interlobular arteries

hydronephrosis ( J:259639 )

• massive hydronephrosis beginning at 2 weeks of age

small kidney ( J:259639 )

• overall kidney size is reduced

abnormal distal convoluted tubule morphology ( J:259639 )

• marked flattening of the cells

• almost complete absence of parvalbumin indicates atrophy and disappearance of the initial portion of the distal convoluted tubule

dilated distal convoluted tubule ( J:259639 )

abnormal loop of Henle ascending limb thick segment morphology ( J:259639 )

• appear dilated with flattened epithelial cells

abnormal renal transport ( J:259639 )

• no 9-pS chloride channels are recorded in distal convoluted tubule patches

• no ~10-pS Cl^- channels are detected intercalated cells of the connecting tubule and the collecting duct or in cells from the cortical thick ascending limb

abnormal renal sodium ion transport ( J:259639 )

• treatment with furosemide fails to elicit an increase in urinary sodium excretion unlike in wild-type controls

• marked decrease in thiazide sensitivity

polyuria ( J:259639 )

• intense

homeostasis/metabolism

alkalemia ( J:259639 )

hypokalemia ( J:259639 )

alkalosis ( J:259639 )

• very strong metabolic alkalosis with partial respiratory compensation

abnormal urine homeostasis ( J:259639 )

increased urine magnesium level ( J:259639 )

decreased urine osmolality ( J:259639 )

increased urine prostaglandin level ( J:259639 )

• elevated PGE2 levels in the urine

decreased physiological sensitivity to xenobiotic ( J:259639 )

• treatment with furosemide fails to elicit an increase in urinary sodium excretion unlike in wild-type controls

• marked decrease in thiazide sensitivity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bartter disease		DOID:445	OMIM:PS601678	J:259639