BXD32/TyJ-Galc^twi-5J/J

Stock number: 003613
Product name: twitcher 5 Jackson
Research areas: Neurobiology Research

Description

These mice carry a spontaneous mutation at the Galc locus characterized by moderate tremor, smaller body size, and early death.

Detailed description

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 strain distribution pattern (SDP) for the BXD RI strains is available through the Mouse Genome Informatics Contributed Data Sets and Gene Network. Additional tools and information are presented through the Mouse Phenome Database Specialized Strain Panel Query Form, and Gene Network.

Development

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

Symbol: Galc^twi-5J
Name: twitcher 5 Jackson
MGI accession ID: MGI:3800471
Generation method: Spontaneous
Marker symbol: Galc
Marker name: galactosylceramidase
Marker synonyms: 2310068B06Rik; A930008M05Rik; Gacy; galactocerebrosidase
Chromosome: 12
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.