Version: 8.0.0
Date: Tue Jan 28 2025
Sco2tm2.1Easc
MGI:4413585
Allele of Sco2
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Sco2tm2.1Easc

Species
Mus musculus
Symbol
Sco2tm2.1Easc
Category
allele
Allele of gene
Sco2
Transgenic Constructs
None
Synonyms
  • Sco2loxPKI
Description
Nucleotide subtitutions resulted in the amino acid substitution of lysine for glutamic acid at position 129 (E129K). A floxed neo cassette used for selection purposes was inserted downstream of the stop codon and removed by cre mediated recombination. This mutation replicated one found in almost all human SCO2-mutated patients.
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
    Source
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