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Trpv5Hcalc1
Chemically induced Allele Detail
Summary
Symbol: Trpv5Hcalc1
Name: transient receptor potential cation channel, subfamily V, member 5; hypercalciuria 1
MGI ID: MGI:5501482
Synonyms: Trpv5682P
Gene: Trpv5  Location: Chr6:41629107-41657703 bp, - strand  Genetic Position: Chr6, 19.83 cM
Alliance: Trpv5Hcalc1 page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsENU mutagenesis induced a T to C transition in codon 682 that results in an amino acid substitution of proline for serine at position 682. (J:196612)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 7 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Trpv5 Mutation:  49 strains or lines available
References
Original:  J:196612 Loh NY, et al., Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5. PLoS One. 2013;8(1):e55412
All:  1 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
11/12/2024
MGI 6.24
The Jackson Laboratory