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Bub1btm3.1Jvd
Targeted Allele Detail
Nomenclature
Symbol: Bub1btm3.1Jvd
Name: BUB1B, mitotic checkpoint serine/threonine kinase; targeted mutation 3.1, Jan M A van Deursen
MGI ID: MGI:6478925
Synonyms: BUBR1L1002P
Gene: Bub1b  Location: Chr2:118428692-118472072 bp, + strand  Genetic Position: Chr2, 59.4 cM
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 detailsThe 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structures
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:  49 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/10/2022
MGI 6.19
The Jackson Laboratory