Klhl24^em2Xtan
Endonuclease-mediated Allele Detail

Summary

• Symbol: Klhl24^em2Xtan
• Name: kelch-like 24; endonuclease-mediated mutation 2, Xu Tan
• MGI ID: MGI:7428975
• Synonyms: K24KI, Klhl24^c.3G/T
• Gene: Klhl24 Location: Chr16:19916292-19947971 bp, + strand Genetic Position: Chr16, 12.36 cM, cytoband B1
• Alliance: Klhl24^em2Xtan page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a one nucleotide substitution in the initiation codon, ATG to ATT. This is a variant identified in a patient with epidermolysis bullosa. (J:327299)

Expression

In Structures Affected by this Mutation:

2 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 Klhl24 Mutation: 35 strains or lines available

References

• Original: J:327299 Lin Z, et al., Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. Nat Genet. 2016 Dec;48(12):1508-1516
• All: 3 reference(s)