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Allele : Pah<em1Xiwan> phenylalanine hydroxylase; endonuclease-mediated mutation 1, Xiao Wang

Primary Identifier  MGI:7574694 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Pah
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/cas9 endonuclease-mediated homology-directed repair was used to replace a portion of exon 7 with the orthologous human PAH sequence surrounding and containing an amino acid substitution at position 281 altering proline to leucine (P281L; c.842 C to T) of the phenylalanine hydroxylase (Pah) gene on chromosome 10.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Pah P281L,
  • Pah P281L
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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

2 Publication categories

Trail: Allele