Phenotypes Associated with This Genotype

Genotype
MGI:6791342

• Allelic Composition: Mad2l1bp^tm1.2Itl/Mad2l1bp^tm1.2Itl
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NTac

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

mortality/aging

neonatal lethality, complete penetrance ( J:234643 )

• homozygotes are born in the expected Mendelian ratio but die within 5 hours of birth in spite of evidence of suckling activity and lung inflation

growth/size/body

decreased birth body size ( J:234643 )

postnatal growth retardation ( J:234643 )

• mild growth retardation in newborns

• however, no gross morphological defects are observed

decreased fetal size ( J:234643 )

• at E18.5

fetal growth retardation ( J:234643 )

• mild growth retardation at E18.5

liver/biliary system

decreased liver glycogen level ( J:234643 )

• newborns show significantly lower liver glycogen levels than wild-type controls

abnormal hepatocyte morphology ( J:234643 )

• hepatocytes from E18.5 fetuses and newborns show reduced cytoplasmic vacuolation, suggesting defects in liver glycogen storage

• however, liver development is normal

cellular

decreased adipocyte glucose uptake ( J:234643 )

• MEF-derived adipocytes are poorly differentiated and show defects in insulin signaling, GLUT4 translocation, and insulin-stimulated glucose uptake

aneuploidy ( J:234643 )

• MEFs show increased aneuploidy

polyploidy ( J:234643 )

• MEFs show increased polyploidy

abnormal mitosis ( J:234643 )

• MEFs exhibit a decreased S-phase population, a mitotic delay and abnormal mitotic features, including misaligned and lagging chromosomes

increased mitotic index ( J:234643 )

• MEFs exhibit an increased G2/M population

increased fibroblast apoptosis ( J:234643 )

• MEFs exhibit increased apoptosis relative to wild-type MEFs

decreased fibroblast proliferation ( J:234643 )

• MEFs proliferate more slowly than wild-type MEFs

homeostasis/metabolism

decreased liver glycogen level ( J:234643 )

• newborns show significantly lower liver glycogen levels than wild-type controls

adipose tissue

abnormal adipose tissue development ( J:234643 )

• MEFs exhibit defective insulin-induced adipogenesis

decreased adipocyte glucose uptake ( J:234643 )

• MEF-derived adipocytes are poorly differentiated and show defects in insulin signaling, GLUT4 translocation, and insulin-stimulated glucose uptake

muscle

muscle phenotype ( J:234643 )

N • E18.5 fetuses show no muscle hypotrophy and have normal skeletal muscle glycogen levels