Kl^ecalc2
Chemically induced Allele Detail

Summary

• Symbol: Kl^ecalc2
• Name: klotho; ectopic calcification 2
• MGI ID: MGI:5763763
• Synonyms: Kl^604N, Kl^I604N
• Gene: Kl Location: Chr5:150876072-150917282 bp, + strand Genetic Position: Chr5, 89.77 cM, cytoband G3
• Alliance: Kl^ecalc2 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU 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

Disease models

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Kl Mutation: 53 strains or lines available

References

• 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)