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Snrnp40swp
Spontaneous Allele Detail
Summary
Symbol: Snrnp40swp
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: Snrnp40swp page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous (Hypomorph)
Mutation:    Single point mutation
 
Mutation detailsThis 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 5 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory