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Bub1btm2.1Jvd
Targeted Allele Detail
Nomenclature
Symbol: Bub1btm2.1Jvd
Name: BUB1B, mitotic checkpoint serine/threonine kinase; targeted mutation 2.1, Jan M A van Deursen
MGI ID: MGI:5487826
Synonyms: BubR1GTTA
Gene: Bub1b  Location: Chr2:118598211-118641591 bp, + strand  Genetic Position: Chr2, 59.4 cM
Accelerated cataract formation in Bub1btm2.1Jvd/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, Inserted expressed sequence)
Mutation:    Insertion
 
Mutation detailsA 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 Bub1btm2.1Jvd allele
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: 7 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:  42 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:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/15/2018
MGI 6.12
The Jackson Laboratory