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EN
CRISPR/cas9 endonuclease-mediated homology-directed repair was used to replace a portion of exon 7 with the orthologous human PAH sequence resulting in a non-humanized loss-of-function allele with a 4-bp deletion (GTAA) just distal to the site of 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. (J:344273)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
