Version: 8.0.0
Date: Tue Jan 28 2025
PhexSka1
MGI:2429767
Allele of Phex
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

PhexSka1

Species
Mus musculus
Symbol
PhexSka1
Category
allele
Allele of gene
Phex
Transgenic Constructs
None
Synonyms
None
Description
RT-PCR identified a transcript lacking 84 nucleotides corresponding to exon 8. Sequencing of genomic DNA revealed point mutations of the first nucleotide pair in intron 8 (CG to TA), which resulted in the disruption of the splice donor site and consequent skipping of exon 8.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
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