Galc^em2Erb
Endonuclease-mediated Allele Detail

Summary

• Symbol: Galc^em2Erb
• Name: galactosylceramidase; endonuclease-mediated mutation 2, Ernesto R Bongarzone
• MGI ID: MGI:7408488
• Synonyms: GALC^G41S
• Gene: Galc Location: Chr12:98168553-98225718 bp, - strand Genetic Position: Chr12, 49.83 cM
• Alliance: Galc^em2Erb page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a GGC to AGC change (G to A) resulting in a glycine to serine substitution at amino acid 42 (p.G41S). This is a mutation frequently found in adult forms of Krabbe Disease. (J:325070)

Find Mice (IMSR)

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

References

• Original: J:325070 Rebiai R, et al., CRISPR-Cas9 Knock-In of T513M and G41S Mutations in the Murine beta-Galactosyl-Ceramidase Gene Re-capitulates Early-Onset and Adult-Onset Forms of Krabbe Disease. Front Mol Neurosci. 2022;15:896314
• All: 1 reference(s)