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Allele : Sgsh<mps3a> N-sulfoglucosamine sulfohydrolase (sulfamidase); mucopolysaccharidosis IIIA

Primary Identifier  MGI:2151181 Allele Type  Spontaneous
Gene  Sgsh Inheritance Mode  Recessive
Strain of Origin  Mixed stock Is Recombinase  false
Is Wild Type  false
molecularNote  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).
  • mutations:
  • Single point mutation
  • synonyms:
  • MPS IIIA,
  • MPS IIIA
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

3 Carried By

Trail: Allele

0 Driven By

36 Publication categories

Trail: Allele