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Allele : Fgfr3<em1.1Ntsu> fibroblast growth factor receptor 3; endonuclease-mediated mutation 1.1, Noriyuki Tsumaki

Primary Identifier  MGI:8403692 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Fgfr3
Transmission  Germline Strain of Origin  C57BL/6NSlc-Tg(CAG-EGFP,Acr-EGFP)2Osb
Is Recombinase  false Is Wild Type  false
molecularNote  CRISPR/Cas9-mediated recombination using gRNA 5������ TACGCAGGCGTCCTCAGCTA 3������ introduced a G to A change at position 1120 (c.1120G>A) resulting in a glycine to arginine substitution at amino acid 374 (p.Gly374Arg) in exon 9. This is the most common mutation in achondroplasia patients. An FRT-flanked neomycin resistance cassette was inserted and removed via flp-mediated recombination. In addition, c.1107C>A, c.1110C>A, and c.1113C>G mutations were introduced to prevent the cleavage of the alleles and vectors and established a Sca1 site without changing the amino acid sequence.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Fgfr3<Ach>,
  • Fgfr3<Ach>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Genotypes/models

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

4 Publication categories