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Phenotypes Associated with This Genotype
Genotype
MGI:6478931
Allelic
Composition
Bub1btm1Jvd/Bub1btm3.1Jvd
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bub1btm1Jvd mutation (0 available); any Bub1b mutation (49 available)
Bub1btm3.1Jvd mutation (0 available); any Bub1b mutation (49 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• median lifespan of 343 days compared to 691 days in wild-type mice

growth/size/body
• mice become growth retarded during postnatal development

adipose tissue
• average size of fat cells is reduced
• fat tissue atrophy in 8-10-month old mice

behavior/neurological
• mice show reduced work output during treadmill exercise

cardiovascular system
• mice are sensitive to repeated isoproterenol administration, with half dying within 18 injections, indicating lower cardiac stress tolerance than wild-type mice

cellular
• MEFs show high rates of aneuploidy and premature chromatid separation
• nearly half of MEFs exhibit whole-chromosome aneuploidy
• most aneuploidy results from chromosome gains
• aneuploidy rates in mitotic splenocytes from 5-month old mice are elevated 38%
• MEFs exhibit impaired centrosome movement and form non-perpendicular spindles at increased rates
• premature chromatid separation in mitotic splenocytes from 5-month old mice is elevated
• spindle assembly checkpoint activity is severely compromised in MEFs
• MEFs form non-perpendicular spindles
• marker analysis indicates an increase in senescent cells in muscles and fat tissue

homeostasis/metabolism
• mice show reduced work output during treadmill exercise
• mice are sensitive to repeated isoproterenol administration, with half dying within 18 injections, indicating lower cardiac stress tolerance than wild-type mice
• incidence and multiplicity of DMBA-induced lung tumors are elevated

muscle

neoplasm
N
• mice are not prone to spontaneous tumors, with only 13% of mice dying with detectable tumors
• incidence and multiplicity of DMBA-induced lung tumors are elevated
• the average lung tumor size is increased in DMBA-treated mice

skeleton
• mice develop kyphosis with a median onset of 238 days

vision/eye
• mice are highly sensitive to cataract formation, with a median onset of 161 days

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
mosaic variegated aneuploidy syndrome 1 DOID:0080141 OMIM:257300
J:293084


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