Mouse Genome Informatics
hm
    Spg20tm1.1Xen/Spg20tm1.1Xen
involves: C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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

cellular
• 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

behavior/neurological
• 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
N
• mice exhibit normal neuromusclular junctions (J:185987)
• increased axon length in cultured cortical neurons
• increased branching in cultured cortical neurons
• however, treatment with spartin rescues dendrite branching

skeleton
N
• mice exhibit normal long bones (J:185987)
• chondrocytes exhibit impaired cytokinesis with increased numbers of multinucleated cells compared with wild-type cells

homeostasis/metabolism

tumorigenesis
• mesenchymal cell neoplasm in one mouse

growth/size/body
• in female mice, but not male mice

Mouse Models of Human Disease
OMIM IDRef(s)
Spastic Paraplegia 20, Autosomal Recessive; SPG20 275900 J:185987