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CasrNuf
Chemically induced Allele Detail
Summary
Symbol: CasrNuf
Name: calcium-sensing receptor; nuclear flecks
MGI ID: MGI:3054788
Synonyms: iPMS-112, Nuf
Gene: Casr  Location: Chr16:36314058-36382503 bp, - strand  Genetic Position: Chr16, 25.57 cM
Alliance: CasrNuf page
Ectopic calcification and cataract formation in CasrNuf/Casr+ and CasrNuf/CasrNuf mice

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  (C3H/He x 102/El)F1
Mutation
description
Allele Type:    Chemically induced (other)
Mutation:    Single point mutation
 
Mutation detailsThis mutation was induced by treating a male mouse with isopropyl methane sulfonate. Sequencing revealed a missense T-to-A transversion in the fourth transmembrane domain, causing a leucine to glutamine substitution. Western blot showed a 167-kDa protein in both mutants and wild-types. (J:92612)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 5 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Casr Mutation:  61 strains or lines available
Notes
Isopropyl methane sulfonate induced
References
Original:  J:92612 Hough TA, et al., Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification. Proc Natl Acad Sci U S A. 2004 Sep 14;101(37):13566-71
All:  5 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory