Sh3bp2^tm1.1Ics
Targeted Allele Detail

Summary

• Symbol: Sh3bp2^tm1.1Ics
• Name: SH3-domain binding protein 2; targeted mutation 1.1, Mouse Clinical Institute
• MGI ID: MGI:5701634
• Synonyms: sh3bp2^G418R, sh3bp2^KI
• Gene: Sh3bp2 Location: Chr5:34683182-34720985 bp, + strand Genetic Position: Chr5, 17.89 cM
• Alliance: Sh3bp2^tm1.1Ics page

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 details: A 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)

Disease models

Expression

In Structures Affected by this Mutation:

3 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: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)