Sh2b3^em2Cgv
Endonuclease-mediated Allele Detail

Summary

• Symbol: Sh2b3^em2Cgv
• Name: SH2B adaptor protein 3; endonuclease-mediated mutation 2, Carola Vinuesa
• MGI ID: MGI:7863633
• Synonyms: Sh2b3^R530Q
• Gene: Sh2b3 Location: Chr5:121953551-121975709 bp, - strand Genetic Position: Chr5, 61.99 cM
• Alliance: Sh2b3^em2Cgv page

Mutation origin

• Strain of Origin: C57BL/6NCrl

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Hypomorph)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated an arginine to glutamine substitution at amino acid 530 (p.R530Q). This corresponds to the human R566Q ortholog which shows profound loss of activity and is a variant identified in two patients with systemic lupus erythematosus. (J:358257)

Expression

In Structures Affected by this Mutation:

2 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 Sh2b3 Mutation: 22 strains or lines available

References

• Original: J:358257 Zhang Y, et al., Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity. J Exp Med. 2024 Apr 1;221(4)
• All: 1 reference(s)