Mouse Strain information
APB ID 5391
Added 20/01/2011
Last Edited 13/03/2025
Strain nomenclature: B6.Cg-SgshMPS3a/Apb
Nickname: MPS IIIA Congenic Strain
Genetics
Strain Types Congenic
Genetic Details Congenic
Spontaneous
ES Cell-Line Used N/A
Mode of Inheritance Recessive
1.  Affected Gene Name: N-sulfoglucosamine sulfohydrolase (sulfamidase)  
Chromosome 11
Affected Gene Symbol Sgsh
Protein expression of altered gene: Reduced
Genetic alteration of gene: 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.
MGI Gene Accession ID

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 MGI:1350341
Synonyms sulphamidase
Allele Name N-sulfoglucosamine sulfohydrolase (sulfamidase); mucopolysaccharidosis IIIA
Allele Symbol Sgshmps3a
MGI Allele Accession ID MGI:2151181
Allele synonyms: MPS IIIA
Point mutation sequence:
Insertion/Tagging details:
Guide(s) RNA sequence:
Mutant Construction Technique None
Phenotype
Phenotype Homozygous State General health and vigour is generally good, at least until 30 weeks of age. Newborn MPS IIIA mice are no different to their unaffected counterparts. It is not until around 10 weeks of age that we begin to see differences. From 10 weeks onwards, MPS IIIA males can be aggressive towards each other. If we test the mice in an open-field test of activity, they are less active. They are heavier (presumably due to slightly enlarged liver and spleen), plus urinary retention in some (but not all) mice. Affected females and males are both fertile. From around 18-20 weeks mice are less able to perform a test of learning and memory (Morris water maze) and can best be described as a little ‘duller’ than unaffected mice. Their fur is ruffled and rough looking. We do not often retain mice past around 30 weeks of age, however we might expect that some (but not all) will die younger than unaffected mice. The reason for this is not known, but may relate to liver dysfunction. We have primarily sought to characterise the brain disease in the MPS IIIA mice as this is the area of the body most affected in the mice/patients with this condition. Mice exhibit reduced anxiety, reduced activity, reduced cognition (memory and learning). Other deficits, which may have both a central nervous system and somatic organ/tissue involvement include mildly impaired gait, reduced grip strength. None of these observations are likely to have a major welfare impact. Fighting in affected male mice has been observed, and monitoring for this followed by separation is required. This has significant welfare implications. Early death is seen (40+ weeks). Monitoring more often after 30 weeks of age is recommended, so humane euthanasia can occur.
Phenotype Heterozygous State Normal
Original Genetic Background C57BL/6
Genetic Background Currently Maintained C57BL/6
Coat Colour Black
Eye Colour Black
Strain Images

Strain identification
How is this strain characterised? Genotyping
Fertility and Strain maintenance
Fertility and Strain maintenance
Relevant bibliographic / database references
Strain Specific References
Other Related References
General information
Other Patent Technologies? No
Associated IP rights? No
Does it Model a Human Condition? Yes
Description of human condition: Neurodegenerative lysosomal storage disorder characterised by mental decline, sleep disturbance and hyperactivity.
Research value of this Strain Pathogenesis and therapy development
Applicable Research Areas Research tools
Neurobiology
Metabolism
Cell biology
Keywords
  • Lysosomal storage disorder
  • Mucopolysaccharidosis
  • Neurodegenerative
Is the strain available in any form to other researchers Yes
APB stock stored as: Cryopreserved sperm (from 5 mice)
Are live mice available? No
MTA needs to be signed? Yes


     

 


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