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CRISPR-targeting generated a stop codon at 41 cysteine (TGC) to Stop (TGA), which was predicted to result in loss of function. This codon change corresponded to the ODAPH (c.129C>A [p.Cys43*]) mutation identified in an Iraqi family with amelogenesis imperfecta, AI2A4 (J:94077)
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
