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Allele : Bub1b<tm3.1Jvd> BUB1B, mitotic checkpoint serine/threonine kinase; targeted mutation 3.1, Jan M A van Deursen

Primary Identifier  MGI:6478925 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Bub1b
Transmission  Germline Strain of Origin  129S6/SvEvTac
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • BUBR1<L1002P>,
  • BUBR1<L1002P>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories

Trail: Allele