Klhl3^em1Slin
Endonuclease-mediated Allele Detail

Summary

• Symbol: Klhl3^em1Slin
• Name: kelch-like 3; endonuclease-mediated mutation 1, Shih-Hua Lin
• MGI ID: MGI:7506979
• Synonyms: KLHL3^W523X
• Gene: Klhl3 Location: Chr13:58148042-58261406 bp, - strand Genetic Position: Chr13, 30.92 cM
• Alliance: Klhl3^em1Slin page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to A change resulting in a tryptophan to stop codon (TGG to TGA) substitution at amino acid 523 (p.W523X) in exon 14. In addition, two single nucleotide changes are in the allele: a BsaAI cutting site at the mutation/silencing mutation site Y525, TAC to TAT and one silencing mutation at T520, ACC to ACA. The p.W523X mutation corresponds to the human p.W470X, one of the pathogenic variants identified in pseudohypoaldosteronism type II patients. (J:335611)

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:335611 Lin CM, et al., Generation and analysis of pseudohypoaldosteronism type II knock-in mice caused by a nonsense KLHL3 mutation in the Kelch domain. FASEB J. 2022 Jun;36(6):e22363
• All: 1 reference(s)