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Gusbmps-2J
Spontaneous Allele Detail
Nomenclature
Symbol: Gusbmps-2J
Name: glucuronidase, beta; beta glucuronidase, mucopolysaccharidosis VII 2 Jackson
MGI ID: MGI:2152564
Synonyms: gusmps-2J
Gene: Gusb  Location: Chr5:129989011-130003049 bp, - strand  Genetic Position: Chr5, 68.32 cM
Mutation
origin
Strain of Origin:  C3H/HeOuJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Transposon insertion
 
Mutation detailsSouthern blot analysis showed that this allele is the result of a 5.4kb intracisternal A particle (IAP) transposon insertion near the 3' end of intron 8. Homozygous mice have less than 1% of the normal levels of beta glucuronidase activity. (J:50358)
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: 4 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Gusb Mutation:  24 strains or lines available
References
Original:  J:50358 Gwynn B, et al., Intracisternal A-particle element transposition into the murine beta-glucuronidase gene correlates with loss of enzyme activity: a new model for beta-glucuronidase deficiency in the C3H mouse. Mol Cell Biol. 1998 Nov;18(11):6474-81
All:  4 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
03/30/2021
MGI 6.16
The Jackson Laboratory