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)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count