Phenotypes Associated with This Genotype

Genotype
MGI:3603348

• Allelic Composition: Casr^Nuf/Casr⁺
• Genetic Background: either: (involves: 102/El * 102/H * C3H/He) or (involves: 102/El * C3H/He * C3H/HeH)

• ♀: 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

vision/eye

cataract ( J:92612 )

• cataracts consisting of a group of small, opaque dots in the lens nucleus, these dots are smaller and less numerous than in homozygotes

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 )

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