Allele/Variant

SptssbTvrm122

Species
Mus musculus
Symbol
SptssbTvrm122
Category
allele
Allele of gene
Sptssb
Transgenic Constructs
None
Synonyms
  • SptssbSt
  • SptssbStl
Description
This ENU-induced A to T transversion of nucleotide 167 of the coding sequence results in a histidine to leucine change at amino acid 56, a highly conserved residue in vertebrates. This mutation increases the serine palmitoyltransferase (SPT) affinity toward the C18 fatty acyl-CoA substrate by twofold and elevates 20-carbon (C20) long chain base (LCB) production in the mutant mouse brain and eye.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations