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

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1  Disease Model	Sgsh^mps3a/Sgsh^mps3a	involves: 129X1/SvJ * CD-1 * C57BL/6 * SJL

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
behavior/neurological	√
circling	√
cardiovascular system	√
abnormal heart morphology	√
abnormal myocardium layer morphology	√
abnormal heart valve morphology	√
cellular	√
abnormal cell morphology	√
abnormal lysosome morphology	√
craniofacial	√
thick neurocranium	√
growth/size/body	√
enlarged liver	√
enlarged spleen	√
hematopoietic system	√
enlarged spleen	√
immune system	√
enlarged spleen	√
integument	√
abnormal hair texture	√
disheveled coat	√
liver/biliary system	√
enlarged liver	√
mortality/aging	√
premature death	√
muscle	√
abnormal myocardium layer morphology	√
nervous system	N
nervous system phenotype	N
renal/urinary system	√
abnormal kidney morphology	√
hydronephrosis	√
abnormal renal tubule morphology	√
distended urinary bladder	√
skeleton	√
thick neurocranium	√
abnormal vertebrae morphology	√
vision/eye	√
cornea opacity	√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm1
mucopolysaccharidosis III IDs mucopolysaccharidosis III       DOID:12801 DOID:14729 DOID:14788 MESH:D009084 NCI:C61262 OMIM:252940 ORDO:581 UMLS_CUI:C0026706 Close	√

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)