Allele/Variant

Otcspf-ash

Species
Mus musculus
Symbol
Otcspf-ash
Category
allele
Allele of gene
Otc
Transgenic Constructs
None
Synonyms
  • spf-ash
  • spfash
Description
A G-to-A missense transition of the last nucleotide of exon 4 changes an arginine to histidine (p.R129H) and results in inefficient mRNA splicing at this site, as well as at a site located 48 bases into the adjacent intron. This allele is hypomorphic; approximately 5-10% of wild-type hepatic enzyme activity is retained.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations