Phenotypes associated with this allele

• Allele Symbol: Clcn2^em1Uis
• Allele Name: endonuclease-mediated mutation 1, Ute Scholl
• Allele ID: MGI:6849996
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Clcn2^em1Uis/Clcn2^+	C57BL/6N-Clcn2^em1Uis	MGI:6850120

Genotype
MGI:6850120

ht1

• Allelic Composition: Clcn2^em1Uis/Clcn2⁺
• Genetic Background: C57BL/6N-Clcn2^em1Uis

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

homeostasis/metabolism

increased circulating aldosterone level ( J:282228 )

• plasma aldosterone levels are increased

• males, but not females, show significantly increased aldosterone to renin ratio

• however, plasma renin concentration is unchanged

decreased urine chloride ion level ( J:282228 )

♀ • urinary sodium levels are lower in females, but not males

decreased urine sodium level ( J:282228 )

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:282228 )

N • adrenal gland morphology is normal, with normal total adrenal weight, normal adrenal zonation and no zona glomerulosa hyperplasia

N • testes morphology appears normal

abnormal adrenal gland physiology ( J:282228 )

• adrenal slices show increased calcium oscillatory activity in response to changes in extracellular potassium and angiotensin II

• angiotensin II-dependent calcium bursting is increased in adrenal slice preparations, however, burst duration is not altered and within bursts, the spiking frequency does not differ from controls

cardiovascular system

increased heart rate ( J:282228 )

• heart rate is elevated

• however, 11-month-old mice show no evidence of end-organ damage in the heart

increased systemic arterial blood pressure ( J:282228 )

♂ • male mice exhibit slightly elevated blood pressure; systolic and diastolic blood pressures as well as mean arterial pressure is slightly, but significantly, increased

renal/urinary system

decreased urine chloride ion level ( J:282228 )

♀ • urinary sodium levels are lower in females, but not males

decreased urine sodium level ( J:282228 )

abnormal kidney morphology ( J:282228 )

• males, but not females, show reduced renal expression levels of Ren1

• however, 11-month-old mice show no evidence of end-organ damage in kidneys

nervous system

nervous system phenotype ( J:282228 )

N • brain morphology appears normal

neoplasm

neoplasm ( J:282228 )

N • no formation of aldosterone-producing adenomas is seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary hyperaldosteronism		DOID:446	OMIM:605635 OMIM:613677	J:282228