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Urahplt2
Chemically induced Allele Detail
Summary
Symbol: Urahplt2
Name: urate (5-hydroxyiso-) hydrolase; platelet 2
MGI ID: MGI:4836355
Synonyms: Urahplt2
Gene: Urah  Location: Chr7:140414936-140417884 bp, + strand  Genetic Position: Chr7, 86.03 cM
Alliance: Urahplt2 page
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsAn 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
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: 2 anatomical structure(s)
Tumor Data
List all tumor models in MMHCdb carrying Urahplt2
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)

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
03/19/2024
MGI 6.23
The Jackson Laboratory