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| Nomenclature |
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Symbol:
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Galnstm2(GALNS)Toma
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Name:
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galactosamine (N-acetyl)-6-sulfate sulfatase;
targeted mutation 2, Sunji Tomatsu
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MGI ID: |
MGI:3612971 |
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Synonyms: |
Galnstm(hC79S-mC76S)slu |
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Gene:
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Galns
Location:
Chr8:122578238-122611487 bp, - strand
Genetic Position: Chr8,
71.91 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:104126
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Parent Cell Line:
| RW-4 (ES Cell) |
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Strain of Origin:
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129X1/SvJ
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Galns Mutation:
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3 strains or lines available |
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| References |
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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
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All: |
2 reference(s)
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Analysis Tools
