Allele/Variant

Mbtps1wrt

Species
Mus musculus
Symbol
Mbtps1wrt
Category
allele
Allele of gene
Mbtps1
Transgenic Constructs
None
Synonyms
  • Mbtps1m1Btlr
  • Mbtps1wr
Description
A single missense mutation was found in exon 13 of the 24-exon gene locus (GenBank accession no. NM_01970). The mutation was an A-to-G transition at nucleotide 2041, predicting the amino acid substitution cysteine for tyrosine (Y496C). This mutation occurs on the C-terminal side of the protease domain. Allelic complementation assays suggest the activity of this hypomorph allele is less than half that of the wild-type allele.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations