Allele/Variant

Smpd3fro

Species
Mus musculus
Symbol
Smpd3fro
Category
allele
Allele of gene
Smpd3
Transgenic Constructs
None
Synonyms
  • fro
Description
A 1,758 bp deletion encompasses part of intron 8 and most of exon 9. Deletion of the intron 8-exon 9 splice acceptor site leads to the transcription of the undeleted portion of intron 8. A stop codon in the undeleted portion of intron 8 results in the substitution of the last 33 amino acids of the full length allele with 13 amino acids translated from intron 8 sequence. A histidine residue is thus lost that is critical for catalytic activity.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations