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Allele : Fgfr3<tm3.1Llm> fibroblast growth factor receptor 3; targeted mutation 3.1, Laurence Legeai-Mallet

Primary Identifier  MGI:7516790 Allele Type  Targeted
Attribute String  Constitutively active, Humanized sequence Gene  Fgfr3
Transmission  Germline Strain of Origin  Not Specified
Is Recombinase  false Is Wild Type  false
molecularNote  An asparagine to lysine substitution at amino acid 534 (p.N534K) was introduced in exon 12. A loxP-flanked neomycin/STOP cassette that was inserted upstream of exon 11 was removed via flp-mediated recombination. This corresponds to the p.N540K gain-of-function mutation identified in patients with hypochondroplasia.
  • mutations:
  • Single point mutation
  • synonyms:
  • Fgfr3<Asn534Lys>,
  • Fgfr3<Asn534Lys>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories