A point mutation was introduced, resulted in C451A substitution in the palmitoylation site in exon 7. This mutation is predicted to abrogate membrane localization of the protein. A loxP-flanked neo cassette inserted in intron 7 was removed via Cre-mediated recombination. While protein levels in the uterus, aorta and hepatocytes are similar to wild-type, sucrose gradient isolation of hepatocyte plasma membranes detected a 60% decrease in protein abundance in homozygous mice. (J:206373)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6NTac
Targeted
Insertion, Single point
--
1
4
8

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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