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Sptlc2tm1Jia
Targeted Allele Detail
Summary
Symbol: Sptlc2tm1Jia
Name: serine palmitoyltransferase, long chain base subunit 2; targeted mutation 1, Xian-cheng Jiang
MGI ID: MGI:3815117
Synonyms: LCB2
Gene: Sptlc2  Location: Chr12:87351832-87435129 bp, - strand  Genetic Position: Chr12, 41.52 cM, cytoband E
Alliance: Sptlc2tm1Jia 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 detailsExon 1, which contains the ATG start codon, was replaced with a neomycin resistance cassette. Southern blotting confirmed correct targeting of ES cells. Immunoblot analysis on heterozygote liver extracts indicated protein expression was reduced by more than half, confirming gene inactivation. (J:140627)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Sptlc2 Mutation:  171 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:  7 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/22/2024
MGI 6.24
The Jackson Laboratory