Allele/Variant

Snrnp40swp

Species
Mus musculus
Symbol
Snrnp40swp
Category
allele
Allele of gene
Snrnp40
Transgenic Constructs
None
Synonyms
None
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations