Allele/Variant

Bub1btm3.1Jvd

Species
Mus musculus
Symbol
Bub1btm3.1Jvd
Category
allele
Allele of gene
Bub1b
Transgenic Constructs
None
Synonyms
  • BUBR1L1002P
Description
The first thymidine of codon 1002 was changed into a cytosine (CTT>CCT) resulting in a leucine to proline substation at this codon (L1002P) in exon 23 which corresponds to the human L1012P mutation found in patients with mosaic variegated aneuploidy syndrome. A loxP flanked neomycin selection cassette was inserted upstream of exon 23 and was removed via cre-mediated recombination. Western blot confirmed reduced protein expression in mouse embryonic fibroblasts and tissues.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations