Klhl31^em1Eno
Endonuclease-mediated Allele Detail

Summary

• Symbol: Klhl31^em1Eno
• Name: kelch-like 31; endonuclease-mediated mutation 1, Eric N Olson
• MGI ID: MGI:6163749
• Gene: Klhl31 Location: Chr9:77544014-77567407 bp, + strand Genetic Position: Chr9, 43.36 cM
• Alliance: Klhl31^em1Eno page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Insertion
• Mutation details: CRISPR/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)

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Klhl31 Mutation: 21 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)