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The human FGFR3 gene carrying a glycine to arginine subsitution at amino acid 380 (G380R), a mutation found in the majority of achondroplasia patients, was fused to the mouse Fgfr3 promoter and first non-coding exon (-2311 to +156) and used as the transgene. RT-PCR analysis showed transgene expression in 16 day chondrocytes from transgenic embryos. The transgene expression pattern is similar to that of the endogenous protein as demonstrated by in situ hybridization analysis. (J:59887)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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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References Literature
Title
PMID
Journal
Year
IF
