Klhl3^tm1.1Arte
Targeted Allele Detail

Summary

• Symbol: Klhl3^tm1.1Arte
• Name: kelch-like 3; targeted mutation 1.1, TaconicArtemis
• MGI ID: MGI:6728093
• Synonyms: KLHL3^R528H
• Gene: Klhl3 Location: Chr13:58148042-58261406 bp, - strand Genetic Position: Chr13, 30.92 cM
• Alliance: Klhl3^tm1.1Arte page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:306924
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: A G-to-A mutation was introduced into exon 15, changing arginine codon 528 (CGC) to a histidine codon (CAC), and an FRT site flanked puromycin resistance gene cassette was inserted into intron 15. The puro cassette was removed through subsequent flp-mediated recombination. The mutation is found in familial hyperkalemic hypertension (FHHt) patients. (J:306924)

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 Klhl3 Mutation: 43 strains or lines available

References

• Original: J:306924 Ostrosky-Frid M, et al., Role of KLHL3 and dietary K(+) in regulating KS-WNK1 expression. Am J Physiol Renal Physiol. 2021 May 1;320(5):F734-F747
• All: 2 reference(s)