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Phenotypes Associated with This Genotype
Genotype
MGI:5430992
Allelic
Composition
Spg20tm1.1Xen/Spg20tm1.1Xen
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spg20tm1.1Xen mutation (0 available); any Spg20 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
adipose tissue
• disorganized at 1 and 4 months in female mice (J:185987)
• 4 month old female mice exhibit an increase in lipid droplet numbers compared with wild-type mice (J:185987)
• however, male mice exhibit normal adipose morphology (J:185987)
• disorganized at 1 and 4 months in female mice (J:185987)
• 4 month old female mice exhibit an increase in lipid droplet numbers compared with wild-type mice (J:185987)
• however, male mice exhibit normal adipose morphology (J:185987)
• in female mice, but not male mice (J:185987)
• in female mice, but not male mice (J:185987)
• highly variable size (J:185987)
• 1 month old female mice exhibit increased in adipocyte number compared with wild-type mice (J:185987)
• highly variable size (J:185987)
• 1 month old female mice exhibit increased in adipocyte number compared with wild-type mice (J:185987)
• 1 month old female mice (J:185987)
• 1 month old female mice (J:185987)

cellular
• untreated or treated with oleic acid, mouse embryonic fibroblasts (MEFs) exhibit an increase in lipid droplets compared with wild-type cells (J:185987)
• untreated or treated with oleic acid, mouse embryonic fibroblasts (MEFs) exhibit an increase in lipid droplets compared with wild-type cells (J:185987)
• in MEF and chondrocytes (J:185987)
• in MEF and chondrocytes (J:185987)
• MEFs exhibit slow cytokinesis and increased number of divisions compared with wild-type cells (J:185987)
• MEFs exhibit aberrant division (J:185987)
• chondrocytes exhibit impaired cytokinesis compared with wild-type cells (J:185987)
• MEFs exhibit slow cytokinesis and increased number of divisions compared with wild-type cells (J:185987)
• MEFs exhibit aberrant division (J:185987)
• chondrocytes exhibit impaired cytokinesis compared with wild-type cells (J:185987)
• MEFs migrate further than wild-type mice (J:185987)
• however, migration velocity is normal (J:185987)
• MEFs migrate further than wild-type mice (J:185987)
• however, migration velocity is normal (J:185987)

behavior/neurological
• at 12 months (J:185987)
• at 12 months (J:185987)
• decreased duration and maximum speed on a rotarod at 4 to 7 months (J:185987)
• decreased duration and maximum speed on a rotarod at 4 to 7 months (J:185987)
• in female mice (J:185987)
• in female mice (J:185987)
• progressive (J:185987)
• progressive (J:185987)
• in the right front leg and bilateral hind limbs of one mouse at 6 months due to mesenchymal cell neoplasm (J:185987)
• in the right front leg and bilateral hind limbs of one mouse at 6 months due to mesenchymal cell neoplasm (J:185987)

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

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

homeostasis/metabolism
• in male mice (J:185987)
• in male mice (J:185987)
• in male mice (J:185987)
• in male mice (J:185987)

tumorigenesis
• mesenchymal cell neoplasm in one mouse (J:185987)
• mesenchymal cell neoplasm in one mouse (J:185987)

growth/size/body
• in female mice, but not male mice (J:185987)
• in female mice, but not male mice (J:185987)

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


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory