Allele/Variant

Bub1btm2.1Jvd

Species
Mus musculus
Symbol
Bub1btm2.1Jvd
Category
allele
Allele of gene
Bub1b
Transgenic Constructs
None
Synonyms
  • BubR1GTTA
  • BUBR1X753
Description
A GTTA sequence was inserted at position 2178 in exon 17 (c.2178_2179) to mimic the human mutation 2211insGTTA found in patients with mosaic variegated aneuploidy (MVA) syndrome. Cre-mediated recombination removed the neo cassette upstream of the modified exon 17. Western blot analysis confirmed reduced protein expression in mouse embryonic fibroblasts.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

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    Disease Associations

    Association
    Disease Qualifier
    Disease
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