Allele/Variant

Tg(FGFR3-G380R)7Aya

Species
Mus musculus
Symbol
Tg(FGFR3-G380R)7Aya
Category
allele
Allele of gene
None
Transgenic Constructs
Synonyms
  • hFGFR-3G380R
Description
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.
Additional Information
Literature

Transgenic Constructs

This allele contains 1 transgenic construct
Symbol
Expressed Components
Knock-down Targets
None
Regulatory Regions
None
All alleles with this construct

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations