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Allele : Fbn1<tm1Rmz> fibrillin 1; targeted mutation 1, Francesco Ramirez

Primary Identifier  MGI:1934905 Allele Type  Targeted
Attribute String  Null/knockout Gene  Fbn1
Transmission  Germline Strain of Origin  129S4/SvJae
Is Recombinase  false Is Wild Type  false
molecularNote  A neomycin selection cassette replaced a 6 kb genomic fragment containing exons 19-24, resulting in an in-frame deletion of coding sequences. Quantitative RT-PCR analysis on RNA derived from lungs, skin and skeletal muscles of homozygous mice demonstrated that a mutant transcript was produced from this allele, although approximately at ten-fold reduced levels compared to wild-type. Immunoprecipitation and immunocytochemistry experiments on fibroblasts isolated from homozygous mice confirmed that a shortened protein was made at reduced levels compared to wild-type.
  • mutations:
  • Intragenic deletion,
  • Insertion
  • synonyms:
  • mg delta,
  • mg delta
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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

12 Publication categories