|
|
| 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 details: Southern 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
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
| 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: |
3 reference(s)
|
|
Analysis Tools
