Galns^tm3Toma
Targeted Allele Detail

Summary

• Symbol: Galns^tm3Toma
• Name: galactosamine (N-acetyl)-6-sulfatase; targeted mutation 3, Shunji Tomatsu
• MGI ID: MGI:3715442
• Synonyms: Galns^tm(C76S)slu
• Gene: Galns Location: Chr8:123304981-123338202 bp, - strand Genetic Position: Chr8, 71.91 cM
• Alliance: Galns^tm3Toma page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:122458
• Parent Cell Line: RW-4 (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutation: Single point mutation
• Mutation details: A point mutation, T to A transversion, was engineered to create a cysteine to serine change at position 76 that resulted in a hypomorphic allele. Biochemical assays were used to determine protein activity level. (J:122458)

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 Galns Mutation: 24 strains or lines available

References

• Original: J:122458 Tomatsu S, et al., Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins. Mol Genet Metab. 2007 Jul;91(3):251-8
• All: 1 reference(s)