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Phenotypes Associated with This Genotype
Genotype
MGI:3603348
Allelic
Composition
CasrNuf/Casr+
Genetic
Background
either: (involves: 102/El * 102/H * C3H/He) or (involves: 102/El * C3H/He * C3H/HeH)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
CasrNuf mutation (2 available); any Casr mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

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

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

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
02/05/2019
MGI 6.13
The Jackson Laboratory