All Phenotypes Reep1<Gt(OST398247)Tigm> MGI Mouse

Phenotypes associated with this allele

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Reep1^{Gt(OST398247)Tigm} mutation (0 available); any Reep1 mutation (16 available)

♀	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

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

adipose tissue

decreased white adipose tissue amount ( J:334532 )

• decrease in abdominal white fat deposits

behavior/neurological

limb grasping ( J:334532 )

• mice show prominent and progressive hindlimb clasping from 8 weeks of age

impaired coordination ( J:334532 )

• mice show impairments in rotarod performance as early as 4 weeks of age, falling from the rotarod much earlier than wild-type mice

• mice show compromised ability to walk on a cage ledge starting from 4 weeks and worsening over time

abnormal locomotor behavior ( J:334532 )

• 7 of 8 males and all females are unable to run at the lowest treadmill speed at 24 weeks of age

hindlimb paresis ( J:334532 )

spasticity ( J:334532 )

• mice exhibit difficulty with ambulation, exhibiting hindlimb weakness and stiff, slow movements characteristic of spasticity

cardiovascular system

abnormal pulmonary artery morphology ( J:334532 )

• female mice exhibit lung arterial hyperplasia and hypertrophy

cellular

abnormal endoplasmic reticulum morphology ( J:334532 )

• mice show transverse endoplasmic reticulum (ER) expansion in myelinated corticospinal axons; transverse ER manifests as a pattern repeating about every 0.3-1 um across nearly the full diameter of the axon, resembling the rungs of a ladder in longitudinal sections

• ER in axons shows prominent transverse, sheet-like structures and these periodic structures are connected to one another via a few longitudinal ER tubules and have apertures that allow mitochondria, microtubules and neurofilaments to pass through

• the vast majority of corticospinal axons and only a few ventral root axons have expanded transverse ER

• transverse ER expansions are present in lumbar (L5) and cervical (C4) spinal cord at 1 month of age but are larger and more numerous at 6 months and transverse ER is more prominent in lumbar regions

• transverse ER is also present in spinothalamic axons in spinal cord as well as peripherally in sciatic nerve

• transverse axonal ER expansions sometimes are associated with, or give rise to, less-organized ER tubule aggregations at 6 months of age

increased endoplasmic reticulum stress ( J:334532 )

• levels of ER stress protein GRP78/immunoglobulin-binding protein (BiP) are increased, indicating ER stress in the spinal cord, however at P180, levels are dramatically decreased in the spinal cord

growth/size/body

decreased body weight ( J:334532 )

• mice show lower body weights starting at 8 weeks in males and 16 weeks in females

muscle

abnormal muscle morphology ( J:334532 )

• muscle wasting

skeletal muscle atrophy ( J:334532 )

• skeletal muscle atrophy of the front and hind limbs

nervous system

abnormal corticospinal tract morphology ( J:334532 )

• corticospinal tracts exhibit prominent changes in shape and size of axons and degeneration by 6 months of age

• transverse endoplasmic reticulum (ER) expansion is seen in myelinated corticospinal axons

• mitochondria appear more fragmented in corticospinal axons and mitochondrial volume is slightly increased in corticospinal axons, with more dramatic decreases in mitochondrial length

• however, ER-mitochondrial contact surfaces areas are similar to wild-type

abnormal myelin sheath morphology ( J:334532 )

• mice have multiple swollen myelin sheaths and digestion chambers in the peripheral nervous system

axonal spheroids ( J:334532 )

• 4.5-month-old mice have rare to occasional spheroids in the brainstem as well as in the spinal cord

reproductive system

reduced fertility ( J:334532 )

• about 30-50% of breeding pairs are poor breeders

• mice have short breeding periods (from ages 2-5 months)

respiratory system

hyperpnea ( J:334532 )

• mice exhibit rapid breathing while on a treadmill

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary spastic paraplegia		DOID:2476	OMIM:PS303350	J:334532

Allelic Composition	Atl1^tm1.1Cbla/Atl1⁺ Reep1^{Gt(OST398247)Tigm}/Reep1^{Gt(OST398247)Tigm}
Genetic Background	B6.Cg-Reep1^{Gt(OST398247)Tigm} Atl1^tm1.1Cbla

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atl1^tm1.1Cbla mutation (0 available); any Atl1 mutation (29 available)
Reep1^{Gt(OST398247)Tigm} mutation (0 available); any Reep1 mutation (16 available)

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

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:334532 )

• mice show progressive defects in motor function, but less severely than in double homozygotes

impaired coordination ( J:334532 )

• mice exhibit compromised ability to walk on the cage ledge beginning at 8 weeks for males and 16 weeks for females

• mice show impairments in rotarod performance, falling from the rotarod earlier than wild-type mice

Allelic Composition	Atl1^tm1.2Cbla/Atl1^tm1.2Cbla Reep1^{Gt(OST398247)Tigm}/Reep1^{Gt(OST398247)Tigm}
Genetic Background	B6.Cg-Reep1^{Gt(OST398247)Tigm} Atl1^tm1.2Cbla

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atl1^tm1.2Cbla mutation (0 available); any Atl1 mutation (29 available)
Reep1^{Gt(OST398247)Tigm} mutation (0 available); any Reep1 mutation (16 available)

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

cardiovascular system

abnormal pulmonary artery morphology ( J:334532 )

• 5 of 6 mice exhibit pulmonary arteriole hyperplasia; varies from being mild and affecting a few vessels, to being moderate and affecting multiple vessels

• the majority of pulmonary vessels have inflammatory cells surrounding them

cellular

abnormal endoplasmic reticulum morphology ( J:334532 )

• mice show transverse endoplasmic reticulum (ER) expansion in myelinated corticospinal axons

endocrine/exocrine glands

abnormal Harderian gland morphology ( J:334532 )

• 3 of 11 mice show metaplastic change to the harderian gland

growth/size/body

decreased body weight ( J:334532 )

hearing/vestibular/ear

increased susceptibility to otitis media ( J:334532 )

• 4 of 6 mice exhibit otitis media

immune system

increased susceptibility to otitis media ( J:334532 )

• 4 of 6 mice exhibit otitis media

nervous system

abnormal corticospinal tract morphology ( J:334532 )

• mice show transverse ER expansion in myelinated corticospinal axons

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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