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Phenotypes Associated with This Genotype
Genotype
MGI:3603347
Allelic
Composition
CasrNuf/CasrNuf
Genetic
Background
involves: 102/El * C3H/He
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
CasrNuf mutation (2 available); any Casr mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Ectopic calcification and cataract formation in CasrNuf/Casr+ and CasrNuf/CasrNuf mice

mortality/aging
• some homozygous breeding mice, mainly lactating females, die suddenly

vision/eye
• 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
• reduced parathyroid hormone levels are seen; however, no abnormalities are seen in the parathyroid glands and serum and urinary magnesium levels are normal
• 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
• female but not male homozygotes display hypocalciuria

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

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

renal/urinary system
• female but not male homozygotes display hypocalciuria
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/13/2019
MGI 6.13
The Jackson Laboratory