Phenotypes associated with this allele

• Allele Symbol: Cldn16^tm1.1Dmu
• Allele Name: targeted mutation 1.1, Dominik Muller
• Allele ID: MGI:4453303
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cldn16^tm1.1Dmu/Cldn16^tm1.1Dmu	involves: 129 * BALB/cJ * C57BL/6	MGI:4453304

Genotype
MGI:4453304

hm1

• Allelic Composition: Cldn16^tm1.1Dmu/Cldn16^tm1.1Dmu
• Genetic Background: involves: 129 * BALB/cJ * C57BL/6

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

homeostasis/metabolism

increased circulating parathyroid hormone level ( J:159706 )

• significantly elevated serum parathyroid hormone level

decreased circulating magnesium level ( J:159706 )

• a modest but significant reduction in serum magnesium in 6 weeks old mice

• no hypomagnesemia in serum at day 4

• normal serum calcium level

increased urine calcium level ( J:159706 )

• hypercalciuria (3-fold increase) in 4 days old mice

• more severe (11-fold increase) in 6 weeks old mice

• normal urinary values for magnesium, sodium, potassium, chloride, and creatinine

• normal renal appearance and microscopic anatomy

• no renal calcifications in up to 11-mo-old adult mice

abnormal renal calcium reabsorption ( J:159706 )

• reduction in calcium permeability in the isolated perfused thick ascending limb of Henle's loop from 16- to 17-wk-old mice

abnormal vitamin D level ( J:159706 )

• significantly elevated serum calcitriol (1,25(OH)2D3) level

decreased urine pH ( J:159706 )

• a significantly lower urinary pH

renal/urinary system

increased urine calcium level ( J:159706 )

• hypercalciuria (3-fold increase) in 4 days old mice

• more severe (11-fold increase) in 6 weeks old mice

• normal urinary values for magnesium, sodium, potassium, chloride, and creatinine

• normal renal appearance and microscopic anatomy

• no renal calcifications in up to 11-mo-old adult mice

decreased urine pH ( J:159706 )

• a significantly lower urinary pH

abnormal renal reabsorption ( J:159706 )

• significant reduction of the permeability to magnesium in the isolated perfused thick ascending limb of Henle's loop from 9- to 10-wk-old and 16- to 17-wk-old mice

abnormal renal calcium reabsorption ( J:159706 )

• reduction in calcium permeability in the isolated perfused thick ascending limb of Henle's loop from 16- to 17-wk-old mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
renal hypomagnesemia 3		DOID:0060880	OMIM:248250	J:159706