Mouse Genome Informatics
involves: C57BL/6J
phenotype observed in females
phenotype observed in males
N normal phenotype
adipose tissue
• disorganized at 1 and 4 months in female mice
• 4 month old female mice exhibit an increase in lipid droplet numbers compared with wild-type mice
• however, male mice exhibit normal adipose morphology
• in female mice, but not male mice
• highly variable size
• 1 month old female mice exhibit increased in adipocyte number compared with wild-type mice
• 1 month old female mice

• untreated or treated with oleic acid, mouse embryonic fibroblasts (MEFs) exhibit an increase in lipid droplets compared with wild-type cells
• in MEF and chondrocytes
• MEFs exhibit slow cytokinesis and increased number of divisions compared with wild-type cells
• MEFs exhibit aberrant division
• chondrocytes exhibit impaired cytokinesis compared with wild-type cells
• MEFs migrate further than wild-type mice
• however, migration velocity is normal

• at 12 months
• decreased duration and maximum speed on a rotarod at 4 to 7 months
• in female mice
• progressive
• in the right front leg and bilateral hind limbs of one mouse at 6 months due to mesenchymal cell neoplasm

nervous system
• mice exhibit normal neuromusclular junctions
• increased axon length in cultured cortical neurons
• increased branching in cultured cortical neurons
• however, treatment with spartin rescues dendrite branching

• mice exhibit normal long bones
• chondrocytes exhibit impaired cytokinesis with increased numbers of multinucleated cells compared with wild-type cells


• mesenchymal cell neoplasm in one mouse

• in female mice, but not male mice

Mouse Models of Human Disease
Spastic Paraplegia 20, Autosomal Recessive; SPG20 275900 J:185987