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The gene was targeted for single base substitutions using a third generation base editor (BE3) that is a fusion protein consisting of rat cytidine deaminase Apobec1, cas9 nickase (nCas9) and bacteriophage PBS1 uracil glycosylase inhibitor (UGI). The BE3 mRNA was micro-injected into zygotes together with an sgRNA targeting the sequence of one for the desired domains (RRM1, RRM2, DSRM). This allele has a substitution changing leucine codon 77 to phenylalanine (p.L77F). (J:269609)
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
