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Lcattm1Nsa
Targeted Allele Detail
Nomenclature
Symbol: Lcattm1Nsa
Name: lecithin cholesterol acyltransferase; targeted mutation 1, Naohiko Sakai
MGI ID: MGI:2445879
Synonyms: LCAT-
Gene: Lcat  Location: Chr8:105939551-105943382 bp, - strand  Genetic Position: Chr8, 53.06 cM
Renal lesions in Lcattm1Nsa/Lcattm1Nsa mice on a high fat/high cholesterol diet for 16 weeks

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:39237
Parent Cell Line:  RW-4 (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExons 2 through 5 were replaced with a neomycin selection cassette inserted by homologous recombination. The deleted region encoded amino acids 28 through 216, including serine 181 which has been implicated in the initial hydrolysis of phosphatidylcholine. Transcript was undetected by Northern blot analysis of homozygous mutant mice. Biochemical assays, including those of cholesterol esterification rate (CER), indicated a complete deficiency of alpha- and beta-lecithin cholesterol acyltransferase activity in homozygous mutant mice. A 70% reduction was observed in heterozygotes. (J:39237)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 5 anatomical structures
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 Lcat Mutation:  4 strains or lines available
References
Original:  J:39237 Sakai N, et al., Targeted disruption of the mouse lecithin:cholesterol acyltransferase (LCAT) gene. Generation of a new animal model for human LCAT deficiency. J Biol Chem. 1997 Mar 14;272(11):7506-10
All:  8 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
01/14/2020
MGI 6.14
The Jackson Laboratory