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Targeted Allele Detail
Symbol: Galnstm1Toma
Name: galactosamine (N-acetyl)-6-sulfate sulfatase; targeted mutation 1, Shunji Tomatsu
MGI ID: MGI:2686931
Synonyms: Galns-
Gene: Galns  Location: Chr8:122578238-122611487 bp, - strand  Genetic Position: Chr8, 71.91 cM
Germline Transmission:  Earliest citation of germline transmission: J:87155
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129X1/SvJ
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 1.8 kb fragment encompassing portions of intron 1 and exon 2 was deleted via homologous and cre-mediated recombination. A single loxP site remained in place of the deleted region. Transcript was undetected in homozygous mutant mice by Northern blot and RT-PCR analyses. Furthermore, homozygous mutant mice showed no GALNS enzmye activity. (J:87155)
View phenotypes for all genotypes (concatenated display).
Disease models
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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:  7 strains or lines available
Original:  J:87155 Tomatsu S, et al., Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease. Hum Mol Genet. 2003 Dec 15;12(24):3349-58
All:  2 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.04
The Jackson Laboratory