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Allele : Lcat<tm1Nsa> lecithin cholesterol acyltransferase; targeted mutation 1, Naohiko Sakai

Primary Identifier  MGI:2445879 Allele Type  Targeted
Attribute String  Null/knockout Gene  Lcat
Transmission  Germline Strain of Origin  129X1/SvJ
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Intragenic deletion,
  • Insertion
  • synonyms:
  • LCAT-,
  • LCAT-
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

13 Publication categories

Trail: Allele