Phenotypes Associated with This Genotype

Genotype
MGI:6199190

• Allelic Composition: Reep1^{Gt(OST398247)Tigm}/Reep1^{Gt(OST398247)Tigm}
• Genetic Background: B6J.Cg-Reep1^{Gt(OST398247)Tigm}

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

adipose tissue

decreased abdominal adipose tissue amount ( J:239250 )

• decrease in abdominal white fat deposits

decreased total body fat amount ( J:239250 )

• reduction of fat tissue, with the proportion of total adipose tissue decreased

abnormal fat cell morphology ( J:239250 )

• cerebral cortex shows lipid droplet abnormalities

• cells stimulated with oleic acid do not form lipid droplets as in controls

• upon differentiation of MEFs into adipocytes, cells do not form large lipid droplets

abnormal fat cell differentiation ( J:239250 )

• MEFs exhibit impaired differentiation into adipocytes and do not form large lipid droplets

decreased white fat cell lipid droplet size ( J:239250 )

• the number of lipid droplets is similar in MEFs before and after treatment with oleic acid, while the size of lipid droplets is reduced

• treatment of MEFs with a specific inhibitor of protein kinase A-dependent phosophorylation at perilipin Ser492, Rp-8-PIP-cAMPs, restores oleic-acid mediated increase in lipid droplet size

lipodystrophy ( J:239250 )

behavior/neurological

impaired coordination ( J:239250 )

• mice exhibit impairment at 2 months in the rotarod, falling off the rod sooner than wild-type mice

abnormal gait ( J:239250 )

• mice exhibit a progressive defect in ambulation, with a difference in stride time, stance time and stance length

• however, mice show normal grip strength

slow movement ( J:239250 )

• at 4 month of age, about 50% of mice are unable to walk at the same speed as wild-type mice

spasticity ( J:239250 )

• mice exhibit spasticity, with lower extremity clonus at P3

cellular

abnormal fat cell differentiation ( J:239250 )

• MEFs exhibit impaired differentiation into adipocytes and do not form large lipid droplets

abnormal endoplasmic reticulum morphology ( J:239250 )

• mouse embryonic fibroblasts (MEFs) exhibit an alteration of endoplasmic reticulum (EF) organization, with a larger proportion of sheet ER

homeostasis/metabolism

increased glutamic acid level ( J:239250 )

• glutamate levels are higher in the brain

decreased circulating insulin level ( J:239250 )

• fasting insulin levels are reduced in serum

decreased circulating cholesterol level ( J:239250 )

• fasting cholesterol levels are reduced in serum

decreased circulating triglyceride level ( J:239250 )

• fasting triglyceride levels are reduced in serum

nervous system

abnormal cerebral cortex morphology ( J:239250 )

• mice exhibit lipid changes in the cerebral cortex suggestive of altered water/lipid compositions, with lipid droplet abnormalities

abnormal motor neuron morphology ( J:239250 )

• lateral motor pool is slightly smaller

abnormal axon morphology ( J:239250 )

• reduction in axon diameter in both ventral and dorsal tracts of the spinal cord

• cultured cortical neurons show reduced axon length and decreased branching

demyelination ( J:239250 )

• myelin degeneration in thoracic spinal cord in 4 month old mice

abnormal nervous system electrophysiology ( J:239250 )

• frequencies of locomotor-like activity evoked by 10x threshold train of stimuli to dorsal ganglion are increased in 3 day old mice and latency to the suprathreshold monosynaptic reflex (L5 segment) is shortened, indicating increased motoneuron responsiveness

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary spastic paraplegia 31		DOID:0110782	OMIM:610250	J:239250