Mutation of β-glucosidase 2 causes glycolipid storage disease and impaired male fertility
J. Clin. Invest. Yildiz Yildiz, et al. 116:2985 doi:10.1172/JCI29224 [
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Figure 2Characterization of
Gba2–/– mice.
(
A) PCR genotyping of
Gba2 wild-type, heterozygous (+/–), and homozygous genomic DNA. A 640-bp product was generated from the mutant allele, while a 530-bp product was produced from the wild-type allele. (
B) Immunoblotting of GBA2 protein levels in pooled brains, testes, and livers from
Gba2 wild-type, heterozygous, and homozygous mice (
n = 6 per genotype). The filter of the upper blot was stripped of antibody-antigen complexes and reprobed with an antiserum recognizing calnexin to serve as a loading control. (
C) Bile acid glucosidase and transferase enzyme activities were determined in the brains, testes, and livers of
Gba2 wild-type, heterozygous, and homozygous mice. “X” in the reaction shown is either dolichyl phosphoglucose or octyl β-glucoside.
