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

Symbol:	Sptlc1tm1Jia
Name:	serine palmitoyltransferase, long chain base subunit 1; targeted mutation 1, Xian-cheng Jiang
MGI ID:	MGI:3815115
Synonyms:	LCB1-
Gene:	Sptlc1  Location: Chr13:53486784-53531433 bp, - strand  Genetic Position: Chr13, 27.68 cM
Alliance:	Sptlc1tm1Jia page

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

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)

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

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	26 strains or lines available

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)