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Allele : Fbn1<tm2Rmz> fibrillin 1; targeted mutation 2, Francesco Ramirez

Primary Identifier  MGI:1934906 Allele Type  Targeted
Attribute String  Hypomorph Gene  Fbn1
Transmission  Germline Strain of Origin  (129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Is Recombinase  false Is Wild Type  false
molecularNote  An unequal crossover event resulted in the insertion of a neomycin selection cassette into intron 18 with no loss of coding sequences. RT-PCR analysis confirmed that correctly spliced transcripts are produced from this allele. Northern blot analysis on mRNA derived from skin samples of homozygous mice demonstrated that transcript expression was reduced approximately five-fold. Immunoprecipitation experiments on fibroblasts isolated from homozygous mice confirmed that a protein was expressed from this allele at reduced levels compared to wild-type. This is a hypomorphic allele.
  • mutations:
  • Insertion
  • synonyms:
  • Fbn1<mgR>,
  • Fbn1<mgR>,
  • mgR,
  • mgR
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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

51 Publication categories

Trail: Allele