Phenotypes Associated with This Genotype

Genotype
MGI:5430992

• Allelic Composition: Spart^tm1.1Xen/Spart^tm1.1Xen
• Genetic Background: involves: C57BL/6J

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

adipose tissue

abnormal adipose tissue morphology ( J:185987 )

• 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

increased total body fat amount ( J:185987 )

• in female mice, but not male mice

abnormal fat cell morphology ( J:185987 )

• highly variable size

• 1 month old female mice exhibit increased in adipocyte number compared with wild-type mice

decreased fat cell size ( J:185987 )

• 1 month old female mice

cellular

abnormal cell morphology ( J:185987 )

• untreated or treated with oleic acid, mouse embryonic fibroblasts (MEFs) exhibit an increase in lipid droplets compared with wild-type cells

increased cell nucleus count ( J:185987 )

• in MEF and chondrocytes

abnormal mitosis ( J:185987 )

• 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

abnormal cell migration ( J:185987 )

• MEFs migrate further than wild-type mice

• however, migration velocity is normal

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:185987 )

limb grasping ( J:185987 )

• at 12 months

impaired coordination ( J:185987 )

• decreased duration and maximum speed on a rotarod at 4 to 7 months

abnormal gait ( J:185987 )

• progressive

paresis ( J:185987 )

• in the right front leg and bilateral hind limbs of one mouse at 6 months due to mesenchymal cell neoplasm

paraparesis ( J:185987 )

• in female mice

nervous system

nervous system phenotype ( J:185987 )

N • mice exhibit normal neuromusclular junctions

abnormal axon morphology ( J:185987 )

• increased axon length in cultured cortical neurons

abnormal dendrite morphology ( J:185987 )

• increased branching in cultured cortical neurons

• however, treatment with spartin rescues dendrite branching

skeleton

skeleton phenotype ( J:185987 )

N • mice exhibit normal long bones

abnormal chondrocyte morphology ( J:185987 )

• chondrocytes exhibit impaired cytokinesis with increased numbers of multinucleated cells compared with wild-type cells

homeostasis/metabolism

increased blood uric acid level ( J:185987 )

• in male mice

decreased circulating triglyceride level ( J:185987 )

• in male mice

neoplasm

increased tumor incidence ( J:185987 )

• mesenchymal cell neoplasm in one mouse

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Troyer syndrome		DOID:0050886	OMIM:275900	J:185987