Phenotypes Associated with This Genotype

Genotype
MGI:3603347

• Allelic Composition: Casr^Nuf/Casr^Nuf
• Genetic Background: involves: 102/El * C3H/He

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

Ectopic calcification and cataract formation in Casr^Nuf/Casr⁺ and Casr^Nuf/Casr^Nuf mice

mortality/aging

premature death ( J:92612 )

• some homozygous breeding mice, mainly lactating females, die suddenly

vision/eye

cataract ( J:92612 )

• cataracts consisting of a group of small, opaque dots in the lens nucleus are seen at 4-6 weeks of age; these dots are larger and more numerous than in heterozygotes

homeostasis/metabolism

decreased circulating parathyroid hormone level ( J:92612 )

• reduced parathyroid hormone levels are seen; however, no abnormalities are seen in the parathyroid glands and serum and urinary magnesium levels are normal

decreased circulating calcium level ( J:92612 )

increased circulating phosphate level ( J:92612 )

decreased urine calcium level ( J:92612 )

• female but not male homozygotes display hypocalciuria

calcinosis ( J:92612 )

• calcified foci are seen in striated and visceral smooth muscle particularly in the tongue, vibrissa dermal sheath, and blood vessels especially in the testis and kidney

• mineralization is seen in 88% and 97% of homozygotes in the vibrissa dermal sheath and tongue, respectively compared to 33% and 40% in C3H control mice

decreased urine phosphate level ( J:92612 )

muscle

calcified muscle ( J:92612 )

• calcified foci are seen in striated and visceral smooth muscle, particularly in the tongue

immune system

tongue inflammation ( J:92612 )

• localized histiocytic reaction are seen around mineralized foci in the tongue but not in other tissues

renal/urinary system

decreased urine calcium level ( J:92612 )

• female but not male homozygotes display hypocalciuria

decreased urine phosphate level ( J:92612 )

nephrocalcinosis ( J:92612 )

• calcified foci are seen in blood vessels in the kidney cortex

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant hypocalcemia 1		DOID:0090107	OMIM:601198	J:92612