Galc^twi
Spontaneous Allele Detail

Summary

• Symbol: Galc^twi
• Name: galactosylceramidase; twitcher
• MGI ID: MGI:1856218
• Synonyms: galc-, twi
• Gene: Galc Location: Chr12:98168553-98225718 bp, - strand Genetic Position: Chr12, 49.83 cM
• Alliance: Galc^twi page

Mutation origin

• Strain of Origin: CE/J

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Single point mutation
• Mutation details: Sequence analysis comparisons of cDNA from livers of mice homozygous for this allele and +/+ mice showed a G to A transition at codon 355, changing it from tryptophan to a stop codon (p.W355*). Northern analysis showed absence of the most abundant mRNA of mouse galactocerebrosidase in mice homozygous for this allele. (J:31433)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	22 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Galc Mutation: 46 strains or lines available

References

• Original: J:13867 Duchen LW, A new neurological mutant "twitcher" (twi). Mouse News Lett. 1979;61:47
• All: 101 reference(s)