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Allele : Fbn1<tm1Hcd> fibrillin 1; targeted mutation 1, Harry C Dietz

Primary Identifier  MGI:3690325 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Fbn1
Transmission  Germline Strain of Origin  (129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Is Recombinase  false Is Wild Type  false
molecularNote  Site-directed mutagenesis creates a single T to G base pair alteration in the mouse gene resulting in a Cys to Gly change at amino acid 1041 (previously identified in the literature as C1039G and C1037G). This corresponds with the human C1039Y mutation. The floxed neo selection cassette was removed by crossing to a ubiquitously expressing Cre mouse line.
  • mutations:
  • Insertion,
  • Single point mutation
  • synonyms:
  • Fbn1<C1037G>,
  • Fbn1<C1041G>,
  • Fbn1<C1037G>,
  • Fbn1<C1039G>,
  • Fbn1<C1041G>,
  • Fbn1<C1039G>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

3 Carried By

Trail: Allele

0 Driven By

99 Publication categories

Trail: Allele