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Phenotypes Associated with This Genotype
Genotype
MGI:6199190
Allelic
Composition
Reep1Gt(OST398247)Tigm/Reep1Gt(OST398247)Tigm
Genetic
Background
B6J.Cg-Reep1Gt(OST398247)Tigm
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Reep1Gt(OST398247)Tigm mutation (0 available); any Reep1 mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
adipose tissue
• decrease in abdominal white fat deposits
• reduction of fat tissue, with the proportion of total adipose tissue decreased
• 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
• MEFs exhibit impaired differentiation into adipocytes and do not form large lipid droplets
• 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

behavior/neurological
• mice exhibit impairment at 2 months in the rotarod, falling off the rod sooner than wild-type mice
• mice exhibit a progressive defect in ambulation, with a difference in stride time, stance time and stance length
• however, mice show normal grip strength
• at 4 month of age, about 50% of mice are unable to walk at the same speed as wild-type mice
• mice exhibit spasticity, with lower extremity clonus at P3

cellular
• MEFs exhibit impaired differentiation into adipocytes and do not form large lipid droplets
• mouse embryonic fibroblasts (MEFs) exhibit an alteration of endoplasmic reticulum (EF) organization, with a larger proportion of sheet ER

homeostasis/metabolism
• glutamate levels are higher in the brain
• fasting insulin levels are reduced in serum
• fasting cholesterol levels are reduced in serum
• fasting triglyceride levels are reduced in serum

nervous system
• glutamate levels are higher in the brain
• mice exhibit lipid changes in the cerebral cortex suggestive of altered water/lipid compositions, with lipid droplet abnormalities
• lateral motor pool is slightly smaller
• reduction in axon diameter in both ventral and dorsal tracts of the spinal cord
• cultured cortical neurons show reduced axon length and decreased branching
• myelin degeneration in thoracic spinal cord in 4 month old mice
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/23/2021
MGI 6.16
The Jackson Laboratory