Htt^em1Pkle
Endonuclease-mediated Allele Detail

Summary

• Symbol: Htt^em1Pkle
• Name: huntingtin; endonuclease-mediated mutation 1, Pontus Klein
• MGI ID: MGI:7447292
• Synonyms: Htt^delta12
• Gene: Htt Location: Chr5:34919084-35069878 bp, + strand Genetic Position: Chr5, 17.92 cM
• Alliance: Htt^em1Pkle page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Modified isoform(s))
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 135-bp deletion at the 5 end of the gene in exon 12, producing an allele containing a new splice donor site that mimics the alternatively spliced human isoform. (J:334211)

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(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 Htt Mutation: 180 strains or lines available

References

• Original: J:334211 Kim H, et al., A pathogenic proteolysis-resistant huntingtin isoform induced by an antisense oligonucleotide maintains huntingtin function. JCI Insight. 2022 Sep 8;7(17):e154108
• All: 1 reference(s)