Bub1b^tm2.1Jvd
Targeted Allele Detail

Summary

• Symbol: Bub1b^tm2.1Jvd
• Name: BUB1B, mitotic checkpoint serine/threonine kinase; targeted mutation 2.1, Jan M A van Deursen
• MGI ID: MGI:5487826
• Synonyms: BubR1^GTTA, BUBR1^X753
• Gene: Bub1b Location: Chr2:118428692-118472072 bp, + strand Genetic Position: Chr2, 59.4 cM
• Alliance: Bub1b^tm2.1Jvd page

Accelerated cataract formation in Bub1b^tm2.1Jvd/Bub1b⁺ mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:194926
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

Allele Type: Targeted (Humanized sequence, Modified isoform(s)) Mutation: Insertion Mutation details: 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. (J:194926)

Generation of the Bub1b^tm2.1Jvd allele

Disease models

Expression

In Structures Affected by this Mutation:

8 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: 58 strains or lines available

References

• Original: J:194926 Wijshake T, et al., Reduced life- and healthspan in mice carrying a mono-allelic BubR1 MVA mutation. PLoS Genet. 2012;8(12):e1003138
• All: 2 reference(s)