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Klhl2em1Esoh
Endonuclease-mediated Allele Detail
Summary
Symbol: Klhl2em1Esoh
Name: kelch-like 2, Mayven; endonuclease-mediated mutation 1, Eisei Sohara
MGI ID: MGI:6355952
Synonyms: 7 bp deletion, KLHL2-
Gene: Klhl2  Location: Chr8:65192709-65302669 bp, - strand  Genetic Position: Chr8, 32.3 cM
Alliance: Klhl2em1Esoh page
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Endonuclease-mediated (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsCRISPR/Cas9 mutagenesis induced a 7 bp deletion in exon 3, resulting in a stop codon after the 86th amino acid in the encoded protein. Immunoblot analysis confirmed the absence of protein expression in the kidneys of homozygous mutant mice. (J:250869)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory