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CRISPR/Cas9 technology generated a 4-bp deletion and 50-bp insertion in exon 2 (c.403_406del4ins50bp) resulting in a frameshift (p.H135fs). This mutation destroys the catalytic center of the protein and is predicted to produce a truncated and presumably unstable protein. (J:313854)
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
