Sh2b1^em1Ccsu
Endonuclease-mediated Allele Detail

Summary

• Symbol: Sh2b1^em1Ccsu
• Name: SH2B adaptor protein 1; endonuclease-mediated mutation 1, Christin Carter-Su
• MGI ID: MGI:6446110
• Synonyms: P322S
• Gene: Sh2b1 Location: Chr7:126066166-126074596 bp, - strand Genetic Position: Chr7, 69.06 cM
• Alliance: Sh2b1^em1Ccsu page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/cas9 endonuclease-mediated genome editing was used to create an amino acid substitution at position 322 altering proline to serine (P322S; CCC to TCC) in exon 3 of the gene. The mutation is located in the pleckstrin domain (PH), and was identified as a human childhood obesity-associated variant allele. (J:280476)

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 Sh2b1 Mutation: 51 strains or lines available

References

• Original: J:280476 Flores A, et al., Crucial Role of the SH2B1 PH Domain for the Control of Energy Balance. Diabetes. 2019 Nov;68(11):2049-2062
• All: 1 reference(s)