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A Gly to Arg point mutation at position 717 in exon 12 and a new SacII site in exon 12 were introduced and a floxed neo cassette were inserted after exon 14 via homologous recombination. Cre mediated recombination removed the neo cassette. The point mutation eliminates the diphthamide modification on the protein but leaves the diphthamide biosynthesis machinery intact. (J:188600)
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
