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Klhl31em1Eno
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Klhl31em1Eno
Name: kelch-like 31; endonuclease-mediated mutation 1, Eric N Olson
MGI ID: MGI:6163749
Gene: Klhl31  Location: Chr9:77636732-77660125 bp, + strand  Genetic Position: Chr9, 43.36 cM
Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Endonuclease-mediated (Null/knockout)
Mutation:    Insertion
 
Mutation detailsCRISPR/Cas9 technology generated a 2-bp insertion (AT) in exon 2 that creates an in-frame early TAA stop codon 386 bp downstream of the ATG. qRT-PCR of quadriceps shows a significant reduction in transcript level and Western blot analysis shows loss of protein in skeletal muscle of homozygotes. (J:247651)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 5 anatomical structures
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 Klhl31 Mutation:  13 strains or lines available
References
Original:  J:247651 Papizan JB, et al., Deficiency in Kelch protein Klhl31 causes congenital myopathy in mice. J Clin Invest. 2017 Oct 02;127(10):3730-3740
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
11/12/2019
MGI 6.14
The Jackson Laboratory