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CRISPR/cas9 endonuclease-mediated genome editing was used to create a 1 bp adenine insertion in exon 3 of the gene. The deletion causes a frameshift mutation that introduces a premature stop codon. The resulting N-truncated protein has diminished binding capacity. There is a 40% reduction of protein in homozygotes. (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
