Mbtps1^wrt

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Species

Mus musculus

Symbol

Mbtps1^wrt

Category

allele

Allele of gene

Mbtps1

Transgenic Constructs

None

Synonyms

• Mbtps1^m1Btlr
• Mbtps1^wr

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

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations