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

Symbol:	Galnstm2(GALNS)Toma
Name:	galactosamine (N-acetyl)-6-sulfatase; targeted mutation 2, Sunji Tomatsu
MGI ID:	MGI:3612971
Synonyms:	Galnstm(hC79S-mC76S)slu
Gene:	Galns  Location: Chr8:123304981-123338202 bp, - strand  Genetic Position: Chr8, 71.91 cM
Alliance:	Galnstm2(GALNS)Toma page

Germline Transmission:	Earliest citation of germline transmission: J:104126
Parent Cell Line:	RW-4 (ES Cell)
Strain of Origin:	129X1/SvJ

Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence) Mutation:    Insertion   Galnstm2(GALNS)Toma expresses 1 gene Knock-in expresses: Organism Expressed Gene Homolog in Mouse Note human GALNS (2588) Galns  (MGI:1355303)   Mutation details: A C76S point mutation was inserted into exon 2 as well as human GALNS cDNA sequence containing a C79S mutation was inserted into intron 1. Northern blot analysis detected human transcript in substantial amounts in mutants. (J:104126)

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:104126 Tomatsu S, et al., Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase. Hum Mol Genet. 2005 Nov 15;14(22):3321-35
All:	2 reference(s)