Snrnp40^em2Btlr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Snrnp40^em2Btlr
• Name: small nuclear ribonucleoprotein 40 (U5); endonuclease-mediated mutation 2, Bruce Beutler
• MGI ID: MGI:6696147
• Gene: Snrnp40 Location: Chr4:130253925-130283819 bp, + strand Genetic Position: Chr4, 63.43 cM, cytoband D3
• Alliance: Snrnp40^em2Btlr page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR-targeting of exon 2 deleted 4 bp, producing a frame shift and premature termination after the inclusion of 9 aberrant amino acids. (J:282417)

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 Snrnp40 Mutation: 52 strains or lines available

References

• Original: J:282417 Zhang D, et al., Syndromic immune disorder caused by a viable hypomorphic allele of spliceosome component Snrnp40. Nat Immunol. 2019 Oct;20(10):1322-1334
• All: 1 reference(s)