Version: 8.0.0
Date: Tue Jan 28 2025
Pkhd1cyli
MGI:7568836
Allele of Pkhd1
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Pkhd1cyli

Species
Mus musculus
Symbol
Pkhd1cyli
Category
allele
Allele of gene
Pkhd1
Transgenic Constructs
None
Synonyms
None
Description
This spontaneous mutation in exon 48 has a GG deletion at c.7588_7589 and an insertion of one T, which leads to altered amino acid sequence followed by a premature termination codon 44 basepair downstream
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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