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Allele : Emg1<tm1.1Btr> EMG1 N1-specific pseudouridine methyltransferase; targeted mutation 1.1, Barbara Triggs-Raine

Primary Identifier  MGI:5787927 Allele Type  Targeted
Gene  Emg1 Transmission  Germline
Strain of Origin  (129X1/SvJ x 129S1/Sv)F1-Kitl<+> Is Recombinase  false
Is Wild Type  false
molecularNote  Exon 2 was replaced with a modified one containing an A to G point mutation that reasults in the amino acid substitution of glycine for aspartic acid at position 86 (D86G). This mutation is associated with Bowen-Conradi syndrome (BCS). Flp-mediated recombination removed the inserted splice acceptor IRES beta-geo cassette.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • EMG1 D86G,
  • Emg1<G>,
  • EMG1 D86G,
  • Emg1<G>
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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

4 Publication categories