Mouse Genome Informatics
ht
    Bub1btm2.1Jvd/Bub1b+
involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Accelerated cataract formation in Bub1btm2.1Jvd/Bub1b+ mice

mortality/aging
• reduced median (93 vs. 102 weeks) and maximum lifespan
• accelerated onset of age-related phenotypes

adipose tissue
• at 104 weeks without a decrease in the dermal layer thickness
• reduced total fat mass at 24 months
• reduced fat depot size at 104 weeks
• at 104 weeks
• reduced subscapular fat pad weight at 24, but not 15, months
• at 24, but not 15, months
• at 24, but not 15, months

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

skeleton
N
• mice exhibit normal bone mineral density (J:194926)
• lordokyphosis at 89 weeks without evidence of osteoporosis
• lordokyphosis at 89 weeks without evidence of osteoporosis

muscle
• at 15 months in the gastrocnemius, paraspinal and abdominal muscles
• however, muscle fiber diameter at 3 months
• pronounced by 65 weeks

tumorigenesis
N
• spontaneous tumor incidences are normal (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
• reduced at 65 weeks

growth/size/body
• reduced total fat mass at 24 months
• reduced fat depot size at 104 weeks
• at 24, but not 15, months

cardiovascular system
N
• unlike Bub1btm1Jvd homozygotes, mice do not exhibit cardiac arrhythmias (J:194926)

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

vision/eye
• at 101 weeks

behavior/neurological
• reduced at 65 weeks

Mouse Models of Human Disease
OMIM IDRef(s)
Mosaic Variegated Aneuploidy Syndrome 1; MVA1 257300 J:194926