Kl^ecalc1
Chemically induced Allele Detail

Summary

• Symbol: Kl^ecalc1
• Name: klotho; ectopic calcification 1
• MGI ID: MGI:5763757
• Synonyms: kl^203X, kl^Q203X
• Gene: Kl Location: Chr5:150876072-150917282 bp, + strand Genetic Position: Chr5, 89.77 cM, cytoband G3
• Alliance: Kl^ecalc1 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Hypomorph)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a C to T transition in exon 1 that results in the generation of a stop codon at position 203. This mutation, located in the KL1 domain, is severely hypomorphic and leads to a 17-fold reduction in renal expression, as determined by qRT-PCR analysis. (J:229255)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

21 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)