Klhl3^tm1.1Slin
Targeted Allele Detail

Summary

• Symbol: Klhl3^tm1.1Slin
• Name: kelch-like 3; targeted mutation 1.1, Shih-Hua Lin
• MGI ID: MGI:6393409
• Synonyms: Klhl3^M131V
• Gene: Klhl3 Location: Chr13:58148042-58261406 bp, - strand Genetic Position: Chr13, 30.92 cM
• Alliance: Klhl3^tm1.1Slin page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:284284
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: An A to G change resulting in a methionine to valine substitution at amino acid 131 (M131V) was introduced in exon 5 and a loxP flanked neomycin selection cassette was inserted upstream of exon 5. Cre-mediated recombination removed the neomycin cassette. This corresponds to the M78V mutation in individuals with pseudohypoaldosteronism. (J:284284)

Disease models

Expression

In Structures Affected by this Mutation:

2 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:284284 Lin CM, et al., Generation and analysis of a mouse model of pseudohypoaldosteronism type II caused by KLHL3 mutation in BTB domain. FASEB J. 2019 Jan;33(1):1051-1061
• All: 1 reference(s)