Bub1b^tm3.1Jvd
Targeted Allele Detail

Summary

• Symbol: Bub1b^tm3.1Jvd
• Name: BUB1B, mitotic checkpoint serine/threonine kinase; targeted mutation 3.1, Jan M A van Deursen
• MGI ID: MGI:6478925
• Synonyms: BUBR1^L1002P
• Gene: Bub1b Location: Chr2:118428692-118472072 bp, + strand Genetic Position: Chr2, 59.4 cM
• Alliance: Bub1b^tm3.1Jvd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:293084
• Parent Cell Line: TL1/TL-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: 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. (J:293084)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Bub1b Mutation: 59 strains or lines available

References

• Original: J:293084 Sieben CJ, et al., BubR1 allelic effects drive phenotypic heterogeneity in mosaic-variegated aneuploidy progeria syndrome. J Clin Invest. 2020 Jan 2;130(1):171-188
• All: 1 reference(s)