Gusb^mps-2J
Spontaneous Allele Detail

Summary

• Symbol: Gusb^mps-2J
• Name: glucuronidase, beta; beta glucuronidase, mucopolysaccharidosis VII 2 Jackson
• MGI ID: MGI:2152564
• Synonyms: gus^mps-2J
• Gene: Gusb Location: Chr5:130017852-130031890 bp, - strand Genetic Position: Chr5, 68.32 cM
• Alliance: Gusb^mps-2J page

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

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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: 43 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: 5 reference(s)