Gusb^mps
Spontaneous Allele Detail

Summary

• Symbol: Gusb^mps
• Name: glucuronidase, beta; beta glucuronidase, mucopolysaccharidosis VII
• MGI ID: MGI:1856041
• Synonyms: asd, Gus-b, gus^mps, MPS VII
• Gene: Gusb Location: Chr5:130017852-130031890 bp, - strand Genetic Position: Chr5, 68.32 cM
• Alliance: Gusb^mps page

Lysosomal storage disease is evident in Gusb^mps/Gusb^mps 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-K^bm1/By

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: A 1-bp deletion creates a frameshift mutation within exon 10, which introduces a premature stop codon at codon 497. (J:13207)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	8 anatomical structure(s)

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: 44 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: 55 reference(s)