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Zinc finger nuclease (ZFN)-mediated genomic editing resulted in a 9 bp deletion (c.418_426del) in exon 4 which produces a mutant protein with an in-frame 3 amino acid deletion (p.H140_Y143del) within a highly conserved TBC domain. (J:315009)
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
