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Chemically induced Allele Detail
Symbol: Klecalc2
Name: klotho; ectopic calcification 2
MGI ID: MGI:5763763
Synonyms: Kl604N, KlI604N
Gene: Kl  Location: Chr5:150876072-150917282 bp, + strand  Genetic Position: Chr5, 89.77 cM, cytoband G3
Alliance: Klecalc2 page
Strain of Origin:  C57BL/6J
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsENU mutagenesis induced a T to A transversion in exon 4 that results in the amino acid substitution of asparagine for isoleucine at position 604 (I604N). This mutation, located in the extracellular KL2 domain, is predicted to impair protein stability; in vitro expression analysis in COS-7 cells revealed endoplasmic reticulum retention of the mutant protein. (J:229255)
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 5 anatomical structures
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 Kl Mutation:  46 strains or lines available
Original:  J:229255 Esapa CT, et al., N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models. PLoS One. 2015;10(4):e0122650
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
MGI 6.22
The Jackson Laboratory