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Sh3bp2tm1.1Ics
Targeted Allele Detail
Nomenclature
Symbol: Sh3bp2tm1.1Ics
Name: SH3-domain binding protein 2; targeted mutation 1.1, Mouse Clinical Institute
MGI ID: MGI:5701634
Synonyms: sh3bp2G418R, sh3bp2KI
Gene: Sh3bp2  Location: Chr5:34683182-34720985 bp, + strand  Genetic Position: Chr5, 17.89 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:221901
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Single point mutation
 
Mutation detailsA targeting vector was designed to introduce a GGA to CGA mutation in exon 9, resulting in a glycine to arginine substitution at position 418 (G418R), and a floxed neomycin resistance cassette. The floxed neomycin resistance cassette was removed via cre-mediated recombination. The murine G418R mutation is analogous to the G420R mutation frequently seen in human cherubic patients. (J:221901)
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: 3 anatomical structures
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:  24 strains or lines available
References
Original:  J:221901 Prod'Homme V, et al., Cherubism allele heterozygosity amplifies microbe-induced inflammatory responses in murine macrophages. J Clin Invest. 2015 Apr;125(4):1396-400
All:  1 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
05/10/2022
MGI 6.19
The Jackson Laboratory