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Gusbmps
Spontaneous Allele Detail
Nomenclature
Symbol: Gusbmps
Name: glucuronidase, beta; beta glucuronidase, mucopolysaccharidosis VII
MGI ID: MGI:1856041
Synonyms: asd, Gus-b, gusmps, MPS VII
Gene: Gusb  Location: Chr5:130017852-130031890 bp, - strand  Genetic Position: Chr5, 68.32 cM
Lysosomal storage disease is evident in Gusbmps/Gusbmps mice and is rescued by Tg(GUSB)4Sly/Tg(GUSB)4Sly expression

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  B6.C-H2-Kbm1/By
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsA 1-bp deletion creates a frameshift mutation within exon 10, which introduces a premature stop codon at codon 497. (J:13207)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 9 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 8 strains available      Cell Lines: 0 lines available
Carrying any Gusb Mutation:  37 strains or lines available
References
Original:  J:9705 Birkenmeier EH, et al., Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency. J Clin Invest. 1989 Apr;83(4):1258-6
All:  51 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/23/2021
MGI 6.17
The Jackson Laboratory