Galc^twi-5J
Spontaneous Allele Detail

Summary

• Symbol: Galc^twi-5J
• Name: galactosylceramidase; twitcher 5 Jackson
• MGI ID: MGI:3800471
• Gene: Galc Location: Chr12:98168553-98225718 bp, - strand Genetic Position: Chr12, 49.83 cM
• Alliance: Galc^twi-5J page

Mutation origin

• Strain of Origin: BXD32/TyJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: 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. (J:199132)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

3 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:139715 Karst SY, et al., Twitcher 5 Jackson; a new remutation in the Galc gene. MGI Direct Data Submission. 2008
• All: 4 reference(s)