Snrnp40^swp
Spontaneous Allele Detail

Summary

• Symbol: Snrnp40^swp
• Name: small nuclear ribonucleoprotein 40 (U5); skywarp
• MGI ID: MGI:6696145
• Gene: Snrnp40 Location: Chr4:130253925-130283819 bp, + strand Genetic Position: Chr4, 63.43 cM, cytoband D3
• Alliance: Snrnp40^swp page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Single point mutation
• Mutation details: This spontaneous C-to-G mutation, specific to the C57BL/6J strain, in the splice acceptor region of intron 4 (changing it from CAG to GAG) results in the exclusion of exon 5 from the mature transcript. The resulting protein products lacks the third and fourth WD40 repeats. (J:282417)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

4 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 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)