Portions of exon 5 and exon 6, as well as the intervening intron, were replaced with a neo cassette. The deleted region encoded the catalytic domain. Northern blot analysis of epididymal fat obtained from homozygous mutant mice showed a lack of normal transcript. An absence of protein in homozygous mutant mice was demonstrated by Western blot analysis of the epididymal fat and testes. Neutral cholesterol ester hydrolase (NCEH) activity was undetected by assays involving white and brown adipose tissue. (J:59889)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S7/SvEvBrd
Targeted
Insertion, Intragenic deletion
--
1
1
20

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

References Literature

Title
PMID
Journal
Year
IF
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