Version: 8.0.0
Date: Tue Jan 28 2025
Ptpn6me-v
MGI:1856074
Allele of Ptpn6
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Ptpn6me-v

Species
Mus musculus
Symbol
Ptpn6me-v
Category
allele
Allele of gene
Ptpn6
Transgenic Constructs
None
Synonyms
  • Hcphme-v
  • mev
Description
A T-to-A transversion point mutation on the coding negative strand (g.chr6:124727383A>T on build GRCm38) at a splice consensus site (G-GT>G-GA) results in the use of two other cryptic sites. One site would result in five amino acids being deleted from the encoded protein and the other would include 69bp of intronic sequence, coding for 23 amino acids, in the transcript.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
Annotation details
Source
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
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