Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	SptssbTvrm122
Name:	serine palmitoyltransferase, small subunit B; translational vision research model 122
MGI ID:	MGI:5689843
Synonyms:	SptssbSt, SptssbStl, stellar, Stl
Gene:	Sptssb  Location: Chr3:69726875-69767273 bp, - strand  Genetic Position: Chr3, 32.3 cM, cytoband E3
Alliance:	SptssbTvrm122 page

Strain of Origin:

A.B6-Tyr+/J

Allele Type:    Chemically induced (ENU) (Constitutively active) Mutation:    Single point mutation   Mutation details: 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. Inheritance:    Dominant

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

8 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Sptssb Mutation:	8 strains or lines available

Original:	J:224971 Zhao L, et al., Elevation of 20-carbon long chain bases due to a mutation in serine palmitoyltransferase small subunit b results in neurodegeneration. Proc Natl Acad Sci U S A. 2015 Oct 20;112(42):12962-7
All:	1 reference(s)