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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)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
