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EN
CRISPR/Cas9 technology replaced exon 9 with exons containing a serine to alanine substitution at amino acid 667 (S667A), a serine to glutamate substitution at amino acid 737 (S737E), and a serine to glutamate substitution at amino acid 760 (S760E). This knock-in mimics MAP4 hyperphosphorylation at S737 and S760 and unphosphorylated S667 which is seen in tetralogy of Fallot patients. (J:278780)
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
