Sptssb^Tvrm122
Chemically induced Allele Detail

Summary

• Symbol: Sptssb^Tvrm122
• Name: serine palmitoyltransferase, small subunit B; translational vision research model 122
• MGI ID: MGI:5689843
• Synonyms: Sptssb^St, Sptssb^Stl, stellar, Stl
• Gene: Sptssb Location: Chr3:69726875-69767273 bp, - strand Genetic Position: Chr3, 32.3 cM, cytoband E3
• Alliance: Sptssb^Tvrm122 page

Mutation origin

• Strain of Origin: A.B6-Tyr⁺/J

Mutation description

• 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

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Find Mice (IMSR)

• 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

References

• 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)