Sptlc1^tm1Jia
Targeted Allele Detail

Summary

• Symbol: Sptlc1^tm1Jia
• Name: serine palmitoyltransferase, long chain base subunit 1; targeted mutation 1, Xian-cheng Jiang
• MGI ID: MGI:3815115
• Synonyms: LCB1^-
• Gene: Sptlc1 Location: Chr13:53486784-53531401 bp, - strand Genetic Position: Chr13, 27.68 cM
• Alliance: Sptlc1^tm1Jia page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:140627
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 7 and 8 were replaced with a neomycin resistance gene. Southern blotting confirmed correct targeting of ES cells. Immunoblot analysis on heterozygote liver extracts indicated protein expression was reduced by half, confirming gene inactivation. (J:140627)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Sptlc1 Mutation: 28 strains or lines available

References

• Original: J:140627 Hojjati MR, et al., Serine palmitoyl-CoA transferase (SPT) deficiency and sphingolipid levels in mice. Biochim Biophys Acta. 2005 Oct 15;1737(1):44-51
• All: 4 reference(s)