Sgsh^mps3a
Spontaneous Allele Detail

Summary

• Symbol: Sgsh^mps3a
• 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: Sgsh^mps3a page

Mutation origin

• Strain of Origin: Mixed stock

Mutation description

• 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

Disease models

Expression

In Structures Affected by this Mutation:

10 anatomical structure(s)

Find Mice (IMSR)

• 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

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: 35 reference(s)