Cntnap1^em1Bhat
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cntnap1^em1Bhat
• Name: contactin associated protein-like 1; endonuclease-mediated mutation 1, Manzoor A Bhat
• MGI ID: MGI:7560695
• Synonyms: Cntnap1^C324R
• Gene: Cntnap1 Location: Chr11:101065429-101081550 bp, + strand Genetic Position: Chr11, 64.33 cM, cytoband D
• Alliance: Cntnap1^em1Bhat page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a T to C change resulting in a cysteine to arginine substitution at amino acid 324 (p.C324R). This corresponds to the human C323R mutation identified in congenital hypomyelinating neuropathy. (J:342323)

Expression

In Structures Affected by this Mutation:

3 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 Cntnap1 Mutation: 56 strains or lines available

References

• Original: J:342323 Chang C, et al., Mouse models of human CNTNAP1-associated congenital hypomyelinating neuropathy and genetic restoration of murine neurological deficits. Cell Rep. 2023 Oct 31;42(10):113274
• All: 1 reference(s)