Phenotypes Associated with This Genotype

Genotype
MGI:5487831

• Allelic Composition: Bub1b^tm2.1Jvd/Bub1b⁺
• Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

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

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

mortality/aging

premature death ( J:194926 )

• reduced median (93 vs. 102 weeks) and maximum lifespan

premature aging ( J:194926 )

• accelerated onset of age-related phenotypes

adipose tissue

decreased subcutaneous adipose tissue amount ( J:194926 )

• at 104 weeks without a decrease in the dermal layer thickness

decreased total body fat amount ( J:194926 )

• reduced total fat mass at 24 months

• reduced fat depot size at 104 weeks

decreased fat cell size ( J:194926 )

• at 104 weeks

abnormal fat pad morphology ( J:194926 )

• reduced subscapular fat pad weight at 24, but not 15, months

decreased inguinal fat pad weight ( J:194926 )

• at 24, but not 15, months

decreased mesenteric fat pad weight ( J:194926 )

• at 24, but not 15, months

cellular

aneuploidy ( J:194926 )

• in mouse embryonic fibroblasts

abnormal mitosis ( J:194926 )

• incidence of premature chromosome separation in mouse embryonic fibroblasts is increased compared to in wild-type

early cellular replicative senescence ( J:194926 )

• age-related

skeleton

skeleton phenotype ( J:194926 )

N • mice exhibit normal bone mineral density

lordokyphosis ( J:194926 )

• lordokyphosis at 89 weeks without evidence of osteoporosis

muscle

decreased skeletal muscle fiber diameter ( J:194926 )

• at 15 months in the gastrocnemius, paraspinal and abdominal muscles

• however, muscle fiber diameter at 3 months

muscular atrophy ( J:194926 )

• pronounced by 65 weeks

neoplasm

neoplasm ( J:194926 )

N • spontaneous tumor incidences are normal

increased tumor growth/size ( J:194926 )

• mice treated with DMBA exhibit larger lung tumor size compared with wild-type mice

• however, tumor incidence and multiplicity are normal

homeostasis/metabolism

impaired exercise endurance ( J:194926 )

• reduced at 65 weeks

growth/size/body

decreased body weight ( J:194926 )

• at 24, but not 15, months

cardiovascular system

cardiovascular system phenotype ( J:194926 )

N • unlike Bub1b^tm1Jvd homozygotes, mice do not exhibit cardiac arrhythmias

integument

decreased subcutaneous adipose tissue amount ( J:194926 )

• at 104 weeks without a decrease in the dermal layer thickness

vision/eye

cataract ( J:194926 )

• at 101 weeks

behavior/neurological

impaired exercise endurance ( J:194926 )

• reduced at 65 weeks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mosaic variegated aneuploidy syndrome 1		DOID:0080141	OMIM:257300	J:194926