Phenotypes Associated with This Genotype

Genotype
MGI:6478931

• Allelic Composition: Bub1b^tm1Jvd/Bub1b^tm3.1Jvd
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:293084 )

• median lifespan of 343 days compared to 691 days in wild-type mice

premature aging ( J:293084 )

growth/size/body

postnatal growth retardation ( J:293084 )

• mice become growth retarded during postnatal development

adipose tissue

decreased fat cell size ( J:293084 )

• average size of fat cells is reduced

lipodystrophy ( J:293084 )

• fat tissue atrophy in 8-10-month old mice

behavior/neurological

decreased grip strength ( J:293084 )

impaired exercise endurance ( J:293084 )

• mice show reduced work output during treadmill exercise

cardiovascular system

increased response of heart to induced stress ( J:293084 )

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

cellular

aneuploidy ( J:293084 )

• 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%

abnormal mitosis ( J:293084 )

• 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

abnormal mitotic spindle assembly checkpoint ( J:293084 )

• spindle assembly checkpoint activity is severely compromised in MEFs

abnormal mitotic spindle morphology ( J:293084 )

• MEFs form non-perpendicular spindles

early cellular replicative senescence ( J:293084 )

• marker analysis indicates an increase in senescent cells in muscles and fat tissue

homeostasis/metabolism

impaired exercise endurance ( J:293084 )

• mice show reduced work output during treadmill exercise

increased response of heart to induced stress ( J:293084 )

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

increased incidence of tumors by chemical induction ( J:293084 )

• incidence and multiplicity of DMBA-induced lung tumors are elevated

muscle

skeletal muscle fiber atrophy ( J:293084 )

neoplasm

neoplasm ( J:293084 )

N • mice are not prone to spontaneous tumors, with only 13% of mice dying with detectable tumors

increased incidence of tumors by chemical induction ( J:293084 )

• incidence and multiplicity of DMBA-induced lung tumors are elevated

increased tumor growth/size ( J:293084 )

• the average lung tumor size is increased in DMBA-treated mice

skeleton

kyphosis ( J:293084 )

• mice develop kyphosis with a median onset of 238 days

vision/eye

cataract ( J:293084 )

• 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