Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Sgshmps3a
Name:	N-sulfoglucosamine sulfohydrolase (sulfamidase); mucopolysaccharidosis IIIA
MGI ID:	MGI:2151181
Synonyms:	MPS IIIA
Gene:	Sgsh  Location: Chr11:119234315-119246336 bp, - strand  Genetic Position: Chr11, 83.36 cM
Alliance:	Sgshmps3a page

Strain of Origin:

Mixed stock

Allele Type:    Spontaneous Mutation:    Single point mutation   Mutation details: A G-to-A transition point mutation at coding nucleotide 91 of the encoded mRNA (c.91G>A) altered the corresponding amino acid from aspartic acid to asparagine at position 31 of the encoded protein (p.D31N). (J:72143) Inheritance:    Recessive

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

10 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 5 strains available      Cell Lines: 0 lines available
Carrying any Sgsh Mutation:	39 strains or lines available

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:	33 reference(s)