Version: 8.0.0
Date: Tue Jan 28 2025
Emg1tm1.1Btr
MGI:5787927
Allele of Emg1
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Emg1tm1.1Btr

Species
Mus musculus
Symbol
Emg1tm1.1Btr
Category
allele
Allele of gene
Emg1
Transgenic Constructs
None
Synonyms
  • EMG1 D86G
  • Emg1G
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
Annotation details
Source
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
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