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EN
CRISPR/Cas9 technology generated a CG to TT change at position 176-177 in the acidic transactivation domain, resulting in a proline to leucine substitution at amino acid 59. In addition, a C to T change at position 174 resulting in a synonymous substitution was included to increase the induction efficiency of the P59L mutation. The P59L mutation is identified in patients with multicentric carpotarsal osteolysis syndrome. (J:279108)
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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References Literature
Title
PMID
Journal
Year
IF
