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EN
A targeting vector was designed to introduce a GGA to CGA mutation in exon 9, resulting in a glycine to arginine substitution at position 418 (G418R), and a floxed neomycin resistance cassette. The floxed neomycin resistance cassette was removed via cre-mediated recombination. The murine G418R mutation is analogous to the G420R mutation frequently seen in human cherubic patients. (J:221901)
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
