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Allele : Fmr1<tm1.1Ics> fragile X messenger ribonucleoprotein 1; targeted mutation 1.1, Mouse Clinical Institute
Primary Identifier  MGI:6715338 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Fmr1
Transmission  Germline Strain of Origin  C57BL/6N
Is Recombinase  false Is Wild Type  false
molecularNote  The CGA arginine codon was changed into a CAA nucleotide triplet coding for a glutamine (R138Q; c.413G>A) in exon 5. In addition, a loxP flanked neomycin cassette was inserted downstream of exon 5 and removed via cre-mediated recombination. This is a missense mutation identified in Fragile X syndrome patients.
  • mutations:
  • Single point mutation
  • synonyms:
  • Fmr1<R138Q>,
  • Fmr1<R138Q>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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Trail: Allele

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Trail: Allele




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