Klhl3^tm1.1Esoh
Targeted Allele Detail

Summary

• Symbol: Klhl3^tm1.1Esoh
• Name: kelch-like 3; targeted mutation 1.1, Eisei Sohara
• MGI ID: MGI:5646378
• Synonyms: KLHL3^R528H
• Gene: Klhl3 Location: Chr13:58148042-58261406 bp, - strand Genetic Position: Chr13, 30.92 cM
• Alliance: Klhl3^tm1.1Esoh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:214330
• Parent Cell Line: Baltha1 (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Single point mutation
• Mutation details: The point mutation R528H was introduced into exon 15 and a floxed pgk neo cassette was inserted into intron 14 via homologous recombination. Cre mediated recombination removed the neo cassette. The mutant protein shows impaired binding to WNK1 and WNK4. (J:214330)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Klhl3 Mutation: 43 strains or lines available

References

• Original: J:214330 Susa K, et al., Impaired degradation of WNK1 and WNK4 kinases causes PHAII in mutant KLHL3 knock-in mice. Hum Mol Genet. 2014 Oct 1;23(19):5052-60
• All: 3 reference(s)