Allele/Variant

Phf6em1Azbi

Species
Mus musculus
Symbol
Phf6em1Azbi
Category
allele
Allele of gene
Phf6
Transgenic Constructs
None
Synonyms
  • PHF6 C99F
Description
CRISPR/Cas9 technology introduced a single nucleotide mutation of G to T at nucleotide 296 in which cysteine at amino acid 99 within the PHD domain is replaced with a phenylalanine (C99F). This is a mutation found in Borjeson-Forssman-Lehmann Syndrome patients.
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
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