Version: 8.0.0
Date: Tue Jan 28 2025
Ifitm5em1Pmof
MGI:6195290
Allele of Ifitm5
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Ifitm5em1Pmof

Species
Mus musculus
Symbol
Ifitm5em1Pmof
Category
allele
Allele of gene
Ifitm5
Transgenic Constructs
None
Synonyms
None
Description
CRISPR/Cas9 technology generated a single -14C to T base change in the 5'-UTR, creating a novel ATG start site adding 5 residues (MALEP) in frame with the natural coding sequence. This is a mutation seen in some osteogenesis imperfecta type V 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
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