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| Nomenclature |
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Symbol:
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Galnstm1Toma
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Name:
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galactosamine (N-acetyl)-6-sulfate sulfatase;
targeted mutation 1, Shunji Tomatsu
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MGI ID: |
MGI:2686931 |
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Synonyms: |
Galns- |
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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:87155
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Parent Cell Line:
| Not Specified (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-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A 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)
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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: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
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All: |
1 reference(s)
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Analysis Tools
