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Allele : Fgfr1<tm2.1Cxd> fibroblast growth factor receptor 1; targeted mutation 2.1, Chu-Xia Deng

Primary Identifier  MGI:2153355 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Fgfr1
Transmission  Germline Strain of Origin  129S6/SvEvTac
Is Recombinase  false Is Wild Type  false
molecularNote  Derivative of Fgfr1tm2Cxd. A point mutation was introduced into exon 7 that altered codon 250 from one encoding proline to one encoding arginine (P250R). This mutation corresponds to a known human mutation in this gene that is a cause of Pfeiffer syndrome. A loxP flanked neomycin cassette in intron 6 was removed via Cre mediated recombination leaving one loxP site.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • Fgfr1<250>,
  • Fgfr1<P250R>,
  • Fgfr1<P250R>,
  • Fgfr1<250>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

5 Publication categories

Trail: Allele