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Galnstm2(GALNS)Toma
Targeted Allele Detail
Nomenclature
Symbol: Galnstm2(GALNS)Toma
Name: galactosamine (N-acetyl)-6-sulfate sulfatase; targeted mutation 2, Sunji Tomatsu
MGI ID: MGI:3612971
Synonyms: Galnstm(hC79S-mC76S)slu
Gene: Galns  Location: Chr8:122578238-122611487 bp, - strand  Genetic Position: Chr8, 71.91 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:104126
Parent Cell Line:  RW-4 (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Galnstm2(GALNS)Toma expresses 1 gene
 
Mutation detailsA 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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  3 strains or lines available
References
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/20/2015
MGI 5.21
The Jackson Laboratory