Urah^plt2
Chemically induced Allele Detail

Summary

• Symbol: Urah^plt2
• Name: urate (5-hydroxyiso-) hydrolase; platelet 2
• MGI ID: MGI:4836355
• Synonyms: Urah^plt2
• Gene: Urah Location: Chr7:140414936-140417884 bp, + strand Genetic Position: Chr7, 86.03 cM
• Alliance: Urah^plt2 page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: An A-to-G point mutation was identified and occurs within the third exon of the long transcript with a tyrosine-to-cysteine amino acid substitution at residue 98 of the predicted longer translation product. (J:164423)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Urah^plt2

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Urah Mutation: 13 strains or lines available

References

• Original: J:164423 Stevenson WS, et al., Deficiency of 5-hydroxyisourate hydrolase causes hepatomegaly and hepatocellular carcinoma in mice. Proc Natl Acad Sci U S A. 2010 Sep 21;107(38):16625-30
• All: 3 reference(s)