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CRISPR/Cas9 technology generated a T to G change at position 323 (c.323T>G) resulting in a leucine to arginine substitution at amino acid 108 (p.L108R) which corresponds to the human p.L117R mutation identified in a patient with Bh4-deficient hyperphenylalaninemia B. A silent mutation (GTC to GTA) was also introduced to prevent the biding of sgRNA to the oligo donor. (J:295169)
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
