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Allele : Fbn1<tm3.1Hcd> fibrillin 1; targeted mutation 3.1, Harry C Dietz

Primary Identifier  MGI:5558868 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  Exon 38 was replaced with a floxed neomycin resistance cassette and a modified exon 38 in which nucleotide substitutions result in the amino acid substitution of cysteine for tryptophan at position 1572 (W1572C). This mutation is associated with stiff skin syndrome (SSS) in human patients. Cre-mediated recombination removed the selection cassette.
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • Fbn1<W1572C>,
  • Fbn1<W1572C>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

4 Publication categories

Trail: Allele