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Allele : Fmr1<tm1Rbd> fragile X messenger ribonucleoprotein 1; targeted mutation 1, Robert B Darnell

Primary Identifier  MGI:3840615 Allele Type  Targeted
Gene  Fmr1 Transmission  Germline
Strain of Origin  129 Is Recombinase  false
Is Wild Type  false
molecularNote  PCR mutagenesis was used to create an I304N mutation in exon 10, changing sequence CTG(Leu) ATT(Ile) CAA(Gln) to CTT(Leu) AAC(Asn) CAG(Gln). A loxP-Auto-Cre-NeoR-loxP (ACNF) cassette was inserted in intron 10. Northern blot and quantitative RT-PCR analysis showed that the mutant mRNA was expressed at wild type level and was of the expected size in both brain and testes, but Western blot showed that protein levels were decreased to 13-30% that of wild type. Sequencing of RT-PCR products confirmed the presence of the mutation.
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • Fmr1<tm1(I304N)Drnl>,
  • Fmr1<I304N>,
  • Fmr1<I304N>,
  • Fmr1<tm1(I304N)Rbd>,
  • Fmr1<tm1(I304N)Rbd>,
  • Fmr1<tm1(I304N)Drnl>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

4 Carried By

Trail: Allele

0 Driven By

11 Publication categories

Trail: Allele