Version: 8.0.0
Date: Tue Jan 28 2025
Cntnap1em1Bhat
MGI:7560695
Allele of Cntnap1
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Cntnap1em1Bhat

Species
Mus musculus
Symbol
Cntnap1em1Bhat
Category
allele
Allele of gene
Cntnap1
Transgenic Constructs
None
Synonyms
  • Cntnap1C324R
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
Annotation details
Source
References
No records match query. Try removing filters.
Showing 0 - 0 of 0 rows
per page

    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
    Source
    References
    No records match query. Try removing filters.
    Showing 0 - 0 of 0 rows
    per page