Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Galnstm3Toma
Name:	galactosamine (N-acetyl)-6-sulfatase; targeted mutation 3, Shunji Tomatsu
MGI ID:	MGI:3715442
Synonyms:	Galnstm(C76S)slu
Gene:	Galns  Location: Chr8:123304981-123338202 bp, - strand  Genetic Position: Chr8, 71.91 cM
Alliance:	Galnstm3Toma page

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

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

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)