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Sh3bp2tm1Bjro
Targeted Allele Detail
Summary
Symbol: Sh3bp2tm1Bjro
Name: SH3-domain binding protein 2; targeted mutation 1, Bjorn R Olsen
MGI ID: MGI:3698401
Synonyms: Sh3bp2KI
Gene: Sh3bp2  Location: Chr5:34683182-34720985 bp, + strand  Genetic Position: Chr5, 17.89 cM
Alliance: Sh3bp2tm1Bjro page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:117880
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA proline to arginine mutation was inserted into exon 9 (P416R). A floxed neo included in the vector was subsequently removed from the locus. (J:117880)
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: 18 anatomical structure(s)
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 Sh3bp2 Mutation:  35 strains or lines available
References
Original:  J:117880 Ueki Y, et al., Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 'cherubism' mice. Cell. 2007 Jan 12;128(1):71-83
All:  14 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
12/10/2024
MGI 6.24
The Jackson Laboratory