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Allele : Cntnap1<em2Bhat> contactin associated protein-like 1; endonuclease-mediated mutation 2, Manzoor A Bhat

Primary Identifier  MGI:7560696 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Cntnap1
Strain of Origin  Not Specified Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated a C to T change resulting in an arginine to cysteine substitution at amino acid 765 (p.R765C). This corresponds to the human R764C mutation identified in congenital hypomyelinating neuropathy.
  • mutations:
  • Single point mutation
  • synonyms:
  • Cntnap1<R765C>,
  • Cntnap1<R765C>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories