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| Nomenclature |
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Symbol:
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Lcattm1Nsa
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Name:
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lecithin cholesterol acyltransferase;
targeted mutation 1, Naohiko Sakai
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MGI ID: |
MGI:2445879 |
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Synonyms: |
LCAT- |
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Gene:
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Lcat
Location:
Chr8:105939551-105943382 bp, - strand
Genetic Position: Chr8,
53.06 cM
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Renal lesions in Lcattm1Nsa/Lcattm1Nsa mice on a high fat/high cholesterol diet for 16 weeks
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:39237
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Parent Cell Line:
| RW-4 (ES Cell) |
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Strain of Origin:
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129X1/SvJ
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Exons 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
4 reference(s)
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Analysis Tools
