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Using CRISPRA/Cas9 technology, a flag-tagged stop codon (TGA) was introduced to the Fam83h gene to replace the glutamine codon (CAG) at position 1186-1188. The truncated FAM83H1-395, corresponds to the human ADHCAI FAM83H variant c.1192C > T (p.Q398*). (J:330612)
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
