Galnstm1Toma
Targeted Allele Detail
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Symbol: |
Galnstm1Toma |
Name: |
galactosamine (N-acetyl)-6-sulfatase; targeted mutation 1, Shunji Tomatsu |
MGI ID: |
MGI:2686931 |
Synonyms: |
Galns- |
Gene: |
Galns Location: Chr8:123304981-123338202 bp, - strand Genetic Position: Chr8, 71.91 cM
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Alliance: |
Galnstm1Toma page
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Germline Transmission: |
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: |
129X1/SvJ
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Allele Type: |
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Targeted (Null/knockout) |
Mutations: |
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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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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Galns Mutation: |
24 strains or lines available
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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 |
All: |
4 reference(s) |
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