Klhl2^em2Esoh
Endonuclease-mediated Allele Detail

Summary

• Symbol: Klhl2^em2Esoh
• Name: kelch-like 2, Mayven; endonuclease-mediated mutation 2, Eisei Sohara
• MGI ID: MGI:6355953
• Synonyms: 38 bp deletion, KLHL2^-
• Gene: Klhl2 Location: Chr8:65192709-65302669 bp, - strand Genetic Position: Chr8, 32.3 cM
• Alliance: Klhl2^em2Esoh page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 mutagnesis induced a 38 bp deletion in exon 4, resulting in the introduction of a premature stop codon after the 133rd amino acid of the encoded protein. Immunoblot analysis confirmed the absence of protein expression in the kidneys of homozygous mutant mice. (J:250869)

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 Klhl2 Mutation: 31 strains or lines available

References

• Original: J:250869 Kasagi Y, et al., Impaired degradation of medullary WNK4 in the kidneys of KLHL2 knockout mice. Biochem Biophys Res Commun. 2017 May 27;487(2):368-374
• All: 1 reference(s)