The twitcher 5 Jackson homozygotes on this BXD32/TyJ background have a much earlier onset than the original twitcher mutation assessed on a mixed B6;CE background. A moderate tremor and smaller body size can be detected by 14 to 16 days of age, most homozygotes die by 21 days of age, and the remainder die by 30 days of age.
The twitcher 5 Jackson mutation arose spontaneously in the BXD32/TyJ recombinant inbred strain at The Jackson Laboratory in 1995, and has been maintained on this background by inbreeding.
|Allele Name||twitcher 5 Jackson|
|Gene Symbol and Name||Galc, galactosylceramidase|
|Strain of Origin||BXD32/TyJ|
|Molecular Note||A spontaneous a G-to-A substitution in exon 4 results in the amino acid substitution of glutamic acid with lysine at position 130 (p.E130K). This mutation results in a loss of enzymatic activity.|