Sh2b3^em3Cgv
Endonuclease-mediated Allele Detail

Summary

• Symbol: Sh2b3^em3Cgv
• Name: SH2B adaptor protein 3; endonuclease-mediated mutation 3, Carola Vinuesa
• MGI ID: MGI:7863634
• Synonyms: Sh2b3^delta
• Gene: Sh2b3 Location: Chr5:121953551-121975709 bp, - strand Genetic Position: Chr5, 61.99 cM
• Alliance: Sh2b3^em3Cgv page

Mutation origin

• Strain of Origin: C57BL/6NCrl

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 2-bp deletion (c.1107_1108del, coding RefSeq NM_001306127 or p.G371RfsTer56) causing a frameshift and premature stop codon expected to result in a null allele. (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)