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| Nomenclature |
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Symbol:
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Sgshmps3a
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Name:
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N-sulfoglucosamine sulfohydrolase (sulfamidase);
mucopolysaccharidosis IIIA
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MGI ID: |
MGI:2151181 |
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Synonyms: |
MPS IIIA |
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Gene:
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Sgsh
Location:
Chr11:119343425-119355536 bp, - strand
Genetic Position: Chr11,
83.36 cM
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Mutation
origin |
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Strain of Origin:
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Mixed stock
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: G to A transition point mutation at position 91 of the encoded mRNA altered the corresponding amino acid from aspartic acid to asparagine at position 31 of the encoded protein. (J:72143)
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Inheritance: | |
Recessive |
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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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| References |
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Original: |
J:72142
Bhaumik M et al.,
"A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome)."
Glycobiology 1999 Dec;9(12):1389-96
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All: |
17 reference(s)
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Analysis Tools
