A novel mutation in the gene for canine acid beta-galactosidase that causes GM1-gangliosidosis in Shiba dogs.
A homozygous recessive mutation, causing GM1-gangliosidosis in Shiba dogs, was identified as a deletion of C nucleotide 1668 in the gene for canine acid beta-galactosidase, which was a novel mutation in canine GM1-gangliosidosis.
Yamato
O
O
Laboratory of Internal Medicine, Department of Veterinary Clinical Sciences, Graduate School of Veterinary Medicine, Hokkaido University, Sapporo, Japan. osam@vetmed.hokudai.ac.jp
Endoh
D
D
Kobayashi
A
A
Masuoka
Y
Y
Yonemura
M
M
Hatakeyama
A
A
Satoh
H
H
Tajima
M
M
Yamasaki
M
M
Maede
Y
Y
D000818:Animals; D018076:DNA, Complementary / Q000235:genetics; D004283:Dog Diseases / Q000201:enzymology* / Q000235:genetics*; D004285:Dogs; D016537:Gangliosidosis, GM1 / Q000235:genetics* / Q000662:veterinary*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D001616:beta-Galactosidase / Q000235:genetics*
D018076:DNA, Complementary; D001616:beta-Galactosidase