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Sgshmps3a
Spontaneous Allele Detail
Nomenclature
Symbol: Sgshmps3a
Name: N-sulfoglucosamine sulfohydrolase (sulfamidase); mucopolysaccharidosis IIIA
MGI ID: MGI:2151181
Synonyms: MPS IIIA
Gene: Sgsh  Location: Chr11:119343425-119355536 bp, - strand  Genetic Position: Chr11, 83.36 cM
Mutation
origin
Strain of Origin:  Mixed stock
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsG 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)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 14 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Sgsh Mutation:  15 strains or lines available
References
Original:  J:72142 Bhaumik M, et al., A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome). Glycobiology. 1999 Dec;9(12):1389-96
All:  21 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/15/2018
MGI 6.12
The Jackson Laboratory