Allele/Variant

Kif4em1Noh

Species
Mus musculus
Symbol
Kif4em1Noh
Category
allele
Allele of gene
Kif4
Transgenic Constructs
None
Synonyms
  • Kif4Mut
Description
CRISPR/Cas9 technology generated a CGC to CAG change resulting in an arginine to glutamine substitution at amino acid 728 (p.R728Q) in exon 19. GRCm39 has the CGC to CAG mutation resulting in the R to Q substitution at amino acid 729. The p.R728Q mutation was identified in an intractable childhood epilepsy patient.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations