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Allele : Phf6<em1Azbi> PHD finger protein 6; endonuclease-mediated mutation 1, Azad Bonni

Primary Identifier  MGI:6280442 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Phf6
Strain of Origin  (C57BL/6 x CBA)F2 Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • PHF6 C99F,
  • PHF6 C99F
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

5 Publication categories

Trail: Allele