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EN
An ATG codon (Chromosome 7: 59,228,802-59,311,536; Ube3a exon 4/5) encoding the initiating methionine of UBE3A isoform 3 was mutated into an alanine (GCG) using CRISPR/Cas9, such that only isoform 2 is generated in these mice. A diagnostic silent DraIII restriction site was also introduced in exon 4. (J:261868)
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
