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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Bub1btm3.1Jvd
targeted mutation 3.1, Jan M A van Deursen
MGI:6478925
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Bub1btm3.1Jvd/Bub1b+ involves: 129S6/SvEvTac * C57BL/6 MGI:6478928
ht2
Bub1btm2.1Jvd/Bub1btm3.1Jvd involves: 129S6/SvEvTac * C57BL/6 MGI:6478926
ht3
Bub1btm1Jvd/Bub1btm3.1Jvd involves: 129S6/SvEvTac * C57BL/6 MGI:6478931


Genotype
MGI:6478928
ht1
Allelic
Composition
Bub1btm3.1Jvd/Bub1b+
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bub1btm3.1Jvd mutation (0 available); any Bub1b mutation (49 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• 28% of mitotic splenocytes show abnormal chromosome numbers
• MEFs show an elevation in aneuploidy
• aneuploidy is increased in livers and lungs, but not spleen
• MEFs and mitotic splenocytes exhibit premature chromatid separation
• MEFs exhibit small, but significant, increase in chromosome segregation errors; both spindle assembly checkpoint and attachment error correction machinery are impaired
• MEFs exhibit increased chromosome lagging, forming non-perpendicular spindles and elevated rates due to slow centrosome movement
• spindle assembly checkpoint is impaired in MEFs
• MEFs form non-perpendicular spindles

neoplasm
N
• incidence and spectrum of spontaneous tumors are similar to wild-type
• DMBA-treated mice show no increase in lung tumor incidence, however, lung tumor size is increased
• although incidence and spectrum of spontaneous tumors are similar to wild-type, tumor latencies are reduced (770 days versus 886 days in wild-type mice)
• lymphomas which develop with reduced latencies contain more mitotic cells than lymphomas from wild-type mice

mortality/aging
N
• mice show a strong trend toward reduced median lifespan that is close to reaching significance
• mice show no evidence of accelerated aging phenotypes




Genotype
MGI:6478926
ht2
Allelic
Composition
Bub1btm2.1Jvd/Bub1btm3.1Jvd
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bub1btm2.1Jvd 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
• no newborn pups are detected; embryos are seen at E3.5 but not at E13.5
• attempts to culture the inner cell mass from blastocysts are unsuccessful, indicating that early embryonic death is due to mitotic failure




Genotype
MGI:6478931
ht3
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





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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
06/28/2022
MGI 6.20
The Jackson Laboratory