Gene Summary

Name:
VPS35 retromer complex component
Synonyms:
Mem3

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal gait Vps35em1(IMPC)H HET Early adult 4.76×10-07
abnormal retina morphology Vps35em1(IMPC)H HET Early adult 9.46×10-06
preweaning lethality, complete penetrance Vps35em1(IMPC)H HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Human diseases caused by Vps35 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Vps35 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Vps35 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Parkinsonism with favorable response to dopaminergic medication OMIM:613643
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity ORPHA:228169
Dystonia 16
Bradykinesia, Torticollis, Unsteady gait, Parkinsonism, Abnormal pyramidal sign, Postural tremor ORPHA:210571
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Babinski sign, Increased mitochondrial number, Decreased activity of mitochondrial ... OMIM:619063
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Falls, Resting tremor, Shuffling gait, Rigidity, Parkinsonism, Short stepped shuffl... ORPHA:306692
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Drusen, Reticular pigmentary degeneration OMIM:267800
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Abnormal thyroid-stimulating hormone level, Increased circulating fr... OMIM:615999
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:620482
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Gait disturbance, Intentio... ORPHA:98762
Autosomal Dominant Spastic Paraplegia Type 3
Bradykinesia, Spastic gait, Babinski sign, Tip-toe gait, Lower limb spasticity, Frequent falls, G... ORPHA:100984
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Fasciculations, Spasticity, Rigidity, Ataxia OMIM:183050
Parkinson Disease 19A, Juvenile-Onset
Bradykinesia, Pill-rolling tremor, Limb hypertonia, Spasticity, Shuffling gait, Rigidity, Loss of... OMIM:615528
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Gait disturbance, Action tremor, Rigidit... OMIM:300423
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ga... OMIM:616710
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:605909
Parkinson Disease 17
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Chorea, Ataxia, Lethargy OMIM:618683
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Torticollis, Resting tremor, Incoordination, Spasticity, Parkinsonis... OMIM:128230
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Bradykinesia, Spastic gait, Abnormal pyramidal sign, Spastic tetraparesis OMIM:619052
Spastic Paraplegia 80, Autosomal Dominant
Bradykinesia, Babinski sign, Limb ataxia, Lower limb spasticity, Gait disturbance, Spastic parapl... OMIM:618418
Dystonia 12
Bradykinesia, Torticollis, Tremor, Unsteady gait, Parkinsonism OMIM:128235
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity OMIM:618878
Macular Degeneration, Age-Related, 13
Macular degeneration, Macular scar, Drusen, Choroidal neovascularization OMIM:615439
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Rigidity, Parkinsonism, Thinning of the... OMIM:619911
Parkinsonism With Polyneuropathy
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:619279
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Babinski sign, Difficulty walking, Decreased activity of mitochondrial complex I, Decreased activ... OMIM:500013
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Spinocerebellar Ataxia, Autosomal Recessive 32
Bradykinesia, Limb ataxia, Torticollis, Atrophy/Degeneration affecting the brainstem, Gait ataxia... OMIM:619862
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Rigidity, Parkinso... OMIM:213600
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Scissor gait, Spasticity, Tremor, Loss of ambulation, Parkinsonism, ... ORPHA:521406
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Bradykinesia, Babinski sign, Hypertonia, Limb ataxia, Rigidity, Parkinsonism OMIM:618824
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Tremor, Rigidity, Parkinsonism, Iron accumulation in substantia nigra, Spastic para... ORPHA:329284
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Parkinson Disease 8, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607060
Progressive Non-Fluent Aphasia
Frontotemporal cerebral atrophy, Senile plaques, Astrocytosis, Abnormal lower motor neuron morpho... ORPHA:100070
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Bradykinesia, Hypertonia, Limb hypertonia, Broad-based gait, Parkinsonism OMIM:617384
Cerebellar Ataxia, Cayman Type
Bradykinesia, Broad-based gait, Truncal ataxia, Intention tremor, Gait ataxia, Ataxia OMIM:601238
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Falls, Resting tremor, Gait ataxia, Spastic paraplegia, Ataxia, Park... OMIM:617225
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Bradykinesia, Falls, Shuffling gait, Parkinsonism, Short stepped shuffling gait ORPHA:412066
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bl... OMIM:606324
Huntington Disease
Bradykinesia, Chorea, Rigidity, Gait ataxia OMIM:143100
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Bradykinesia, Chorea, Ataxia, Parkinsonism, Abnormal pyramidal sign, Dysmetria, Slurred speech OMIM:618317
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Pill-rolling tremor, Babinski sign, Resting tremor, Tremor, Shuffling gait, Cogwhee... OMIM:600116
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Gait ataxia, Parkinsonism ORPHA:71517
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta... ORPHA:391411
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c... ORPHA:363654
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Bradykinesia, Apraxia, Spasticity, Shuffling gait, Gait disturbance, Rigidity, Parkinsonism OMIM:221820
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bradykinesia, Babinski sign, Spasticity, Shuffling gait, Frequent falls, Gait disturbance, Rigidi... ORPHA:289560
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rig... ORPHA:240085
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Parkinsonism ORPHA:306669
Neurodegeneration With Brain Iron Accumulation 6
Bradykinesia, Tip-toe gait, Gait disturbance, Rigidity, Spastic tetraplegia, Spastic paraparesis OMIM:615643
Spinocerebellar Ataxia 17
Bradykinesia, Limb ataxia, Apraxia, Broad-based gait, Chorea, Gait ataxia, Intention tremor, Rigi... OMIM:607136
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Abnormality of extrapyramidal motor function, Gait ataxia, Rigidity,... ORPHA:101150
Infantile Dystonia-Parkinsonism
Bradykinesia, Hypertonia, Limb hypertonia, Chorea, Cerebral palsy, Parkinsonism, Abnormal pyramid... ORPHA:238455
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Rigidity, Tremor, Ataxia OMIM:617836
Caribbean Parkinsonism
Bradykinesia, Apraxia, Action tremor, Rigidity, Parkinsonism, Myoclonus, Weakness due to upper mo... ORPHA:97355
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Chorea, Gait ataxia, Rigidity, Ata... ORPHA:248111
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:614251
Dystonia 16
Bradykinesia, Retrocollis, Gait disturbance, Involuntary movements, Abnormal pyramidal sign, Park... OMIM:612067
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramidal muscular rigid... ORPHA:99750
Parkinson Disease 21
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:616361
Huntington Disease-Like 2
Bradykinesia, Chorea, Rigidity, Action tremor OMIM:606438
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Leber Optic Atrophy And Dystonia
Bradykinesia, Spasticity, Athetosis, Upper motor neuron dysfunction OMIM:500001
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
Manganese Poisoning
Bradykinesia, Hypertonia, Akinesia, Abnormality of mitochondrial metabolism, Abnormality of extra... ORPHA:306682
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Unsteady gait, Gait disturbance, Myoclonus ORPHA:412217
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Torticollis, Spasticity, Parkinsonism with fav... OMIM:606693
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Sh... OMIM:311510
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Chorea, Progressive extrapyramidal muscular rig... ORPHA:53351
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Gait disturbance, Gait ataxia, Basal ganglia gliosis, Ataxia, Loss of ambulation, A... ORPHA:225154
Spinocerebellar Ataxia Type 1
Bradykinesia, Progressive cerebellar ataxia, Gait imbalance, Fasciculations, Atrophy/Degeneration... ORPHA:98755
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Ataxia, Parkinsonism, Choreoathetosis OMIM:261640
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex I, Abnormal mitochondrial morphology, Decreased activ... OMIM:618378
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Spasticity, Tremor, Unsteady gait, Ankle clonus, Abnormal pyramidal sign OMIM:617435
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Neuronal loss in central nervous system, Astrocytosis, Gliosis, Ataxia ORPHA:204
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Chorea, Tremor, Cogwheel rigidity, Rigidity, Pa... OMIM:613135
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy, Waddling gait OMIM:602541
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Bradykinesia, Hypertonia, Hyperkinetic movements, Falls, Abnormality of extrapyramidal motor func... ORPHA:13
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Progressive cerebellar ataxia, Abnormal upper motor neuron morphology, Glio... ORPHA:275872
Spinocerebellar Ataxia 2
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... OMIM:183090
Macular Degeneration, Age-Related, 1
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... OMIM:603075
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Neuronal loss in central nervous system, Astrocytosis, Gait disturbance OMIM:600795
Spinocerebellar Ataxia 10
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Progressive cerebellar ataxia, Abn... OMIM:603516
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling, Tremor ORPHA:397744
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Ataxia, Parkinsonism, ... OMIM:619725
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Spasticity, Tremor, G... OMIM:618877
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Loss of ambulation OMIM:619518
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradykinesia, Pontocerebellar atrophy, Inability to walk, Lower limb spasticity, Oromotor apraxia... OMIM:617854
Huntington Disease-Like 1
Bradykinesia, Chorea, Incoordination, Poor fine motor coordination, Frequent falls, Gait ataxia, ... ORPHA:157941
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Senile plaques, Global brain atrophy, Progressive cerebellar ataxia, Neuronal loss ... ORPHA:282166
Hypermanganesemia With Dystonia 1
Bradykinesia, Steppage gait, Abnormality of extrapyramidal motor function, Poor fine motor coordi... OMIM:613280
Multiple System Atrophy
Bradykinesia, Progressive cerebellar ataxia, Resting tremor, Frequent falls, Gait ataxia, Rigidit... ORPHA:102
Huntington Disease
Bradykinesia, Babinski sign, Difficulty walking, Gait imbalance, Inability to walk, Chorea, Poor ... ORPHA:399
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Hypertonia, Abnormal mitochondrial shape, Spasticity, Gait ataxia, Ataxia ORPHA:543470
Parkinsonian-Pyramidal Syndrome
Bradykinesia, Babinski sign, Spasticity, Shuffling gait, Intention tremor, Rigidity, Parkinsonism... ORPHA:171695
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Limb hypertonia, Tremor, Cerebral palsy, Rigidity ORPHA:70594
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity, Ataxia, Parkins... OMIM:606159
Spinocerebellar Ataxia Type 8
Bradykinesia, Limb ataxia, Spastic dysarthria, Spasticity, Gait ataxia, Hypoplasia of the pons, R... ORPHA:98760
Parkinson Disease, Late-Onset
Bradykinesia, Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Parkinsonism, Subst... OMIM:168600
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Spastic paraparesis OMIM:300894
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Akinesia, Gait imbalance, Falls, Progressive extrapyramidal muscular rigidity, Park... ORPHA:240071
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Incoordination, Poor fine motor coordination, Tremor, Ataxia ORPHA:36387
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Bradykinesia, Spastic gait, Babinski sign, Apraxia, Resting tremor, Tremor, Shuffling gait, Spast... OMIM:300055
Multiple System Atrophy, Cerebellar Type
Bradykinesia, Limb ataxia, Progressive cerebellar ataxia, Broad-based gait, Resting tremor, Frequ... ORPHA:227510
Postencephalitic Parkinsonism
Bradykinesia, Babinski sign, Akinesia, Resting tremor, Tremor by anatomical site, Cogwheel rigidi... ORPHA:97349
Primary Progressive Freezing Gait
Bradykinesia, Babinski sign, Difficulty walking, Gait imbalance, Shuffling gait, Frequent falls, ... ORPHA:75567
Fragile X Tremor/Ataxia Syndrome
Bradykinesia, Resting tremor, Poor fine motor coordination, Dysdiadochokinesis, Gait ataxia, Acti... OMIM:300623
Multiple System Atrophy, Parkinsonian Type
Bradykinesia, Progressive cerebellar ataxia, Resting tremor, Frequent falls, Gait ataxia, Rigidit... ORPHA:98933
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Cerebellar atrophy, Ataxia, Neurodegeneration, Pigmentary retinopathy OMIM:610951
Autosomal Recessive Progressive External Ophthalmoplegia
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Shuffling gait, Co... ORPHA:254886
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... OMIM:137440
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Tip-toe gait, Scissor gait, Inability to walk, Spasticity, Tremor, G... OMIM:617013
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Bradykinesia, Incoordination, Truncal ataxia, Episodic ataxia, Gait ataxia, Hemiparesis, Ataxia, ... OMIM:601338
Machado-Joseph Disease
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Facial-lingual fascicula... OMIM:109150
Spastic Paraplegia Type 7
Spastic gait, Babinski sign, Abnormal mitochondrial morphology, Lower limb hypertonia, Slowed slu... ORPHA:99013
Hsd10 Mitochondrial Disease
Spastic tetraplegia, Spasticity, Choreoathetosis, Abnormal mitochondrial morphology OMIM:300438
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Autosomal Dominant Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Torticollis, Abnormality of extrapyramidal motor function, Gait atax... ORPHA:98808
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape, Spasticity ORPHA:485421
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Dravet Syndrome
Bradykinesia, Incoordination, Poor fine motor coordination, Cogwheel rigidity, Action tremor, Rig... ORPHA:33069
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Adult-Onset Nemaline Myopathy
Bradykinesia, Difficulty walking ORPHA:171442
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Rigidity, Parkinso... OMIM:615530
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Astrocytosis, Gait disturbance ORPHA:275864
Sporadic Infantile Bilateral Striatal Necrosis
Bradykinesia, Babinski sign, Progressive extrapyramidal muscular rigidity, Chorea, Resting tremor... ORPHA:225147
Diaminopentanuria
Neurodegeneration, Ataxia OMIM:222350
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Difficulty walking, Gait disturbance ORPHA:352470
Perry Syndrome
Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Short stepped shuffling gait OMIM:168605
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis, Difficulty walking, Inability to walk, Diabetes insipidus OMIM:611087
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Resting tremor, Shuffling gait, Gait disturbance, Rigidity, Loss of ambulation, Par... OMIM:168601
Neuroferritinopathy
Bradykinesia, Babinski sign, Difficulty walking, Resting tremor, Chorea, Blepharospasm, Involunta... ORPHA:157846
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertonia, Hyperkinetic movements, Abnormal mitochondrial shape, Decreased activity of mitochond... ORPHA:17
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Oculorenocerebellar Syndrome
Retinal degeneration, Choreoathetosis OMIM:257970
Spinocerebellar Ataxia Type 13
Bradykinesia, Limb ataxia, Difficulty walking, Torticollis, Titubation, Gait ataxia, Myoclonus, C... ORPHA:98768
Childhood-Onset Nemaline Myopathy
Bradykinesia, Clumsiness, Difficulty walking, Waddling gait ORPHA:171439
Mitochondrial Complex I Deficiency, Nuclear Type 29
Mitochondrial swelling, Decreased activity of mitochondrial complex I OMIM:618250
Combined Oxidative Phosphorylation Deficiency 19
Mitochondrial swelling OMIM:615595
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bradykinesia, Slowed slurred speech OMIM:619827
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Parkinson Disease 14, Autosomal Recessive
Bradykinesia, Eyelid myoclonus, Pill-rolling tremor, Ankle clonus, Resting tremor, Spasticity, Tr... OMIM:612953
Supranuclear Palsy, Progressive, 1
Cerebral atrophy, Bradykinesia, Senile plaques, Akinesia, Gait imbalance, Falls, Neuronal loss in... OMIM:601104
Autosomal Recessive Spastic Paraplegia Type 77
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Intention tremor, Loss of ambul... ORPHA:466722
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Bradykinesia, Babinski sign, Limb ataxia, Steppage gait, Truncal ataxia, Gait ataxia, Intention t... OMIM:258450
Combined Oxidative Phosphorylation Deficiency 18
Increased mitochondrial number, Decreased activity of mitochondrial complex I, Tremor, Dysmetria OMIM:615578
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Fragile X-Associated Tremor/Ataxia Syndrome
Bradykinesia, Abnormal brainstem morphology, Gait disturbance, Gait ataxia, Intention tremor, Rig... ORPHA:93256
Combined Oxidative Phosphorylation Deficiency 12
Bradykinesia, Babinski sign, Decreased activity of mitochondrial complex I, Spastic tetraparesis,... OMIM:614924
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Joubert Syndrome 25
Molar tooth sign on MRI, Ataxia, Oculomotor apraxia OMIM:616781
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Progressive Supranuclear Palsy
Bradykinesia, Falls, Tremor, Blepharospasm, Rigidity, Unsteady gait ORPHA:683
Neurodegeneration With Brain Iron Accumulation 2B
Bradykinesia, Babinski sign, Hypertonia, Chorea, Spasticity, Dysdiadochokinesis, Gait ataxia, Int... OMIM:610217
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Fumarase Deficiency
Cerebral atrophy, Mitochondrial swelling, Polycythemia, Decreased fumarate hydratase activity OMIM:606812
Adult-Onset Dystonia-Parkinsonism
Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor... ORPHA:199351
Hereditary Late-Onset Parkinson Disease
Bradykinesia, Akinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medi... ORPHA:411602
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Difficulty walking, Atrophy/Degeneration affecting the brainstem, Dysdiadochokinesis, Cerebellar ... OMIM:612319
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Inability to walk, Chorea, Cerebellar atrophy, Cerebral cortical atrophy, Ataxi... OMIM:617672
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Babinski sign, Tremor, Rigidity, Ataxia, Parkinsonism OMIM:146500
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ga... OMIM:157640
Young-Onset Parkinson Disease
Bradykinesia, Gait imbalance, Spasticity, Tremor, Rigidity ORPHA:2828
Autosomal Dominant Progressive External Ophthalmoplegia
Bradykinesia, Hypertonia, Resting tremor, Abnormality of extrapyramidal motor function, Tremor, F... ORPHA:254892
Adult Krabbe Disease
Hoffmann sign, Babinski sign, Progressive spastic paraparesis, Broad-based gait, Spasticity, Uppe... ORPHA:206448
Supranuclear Palsy, Progressive, 2
Bradykinesia, Akinesia, Gait imbalance, Retrocollis, Falls, Rigidity, Parkinsonism, Eyelid apraxi... OMIM:609454
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Neuronal loss in central nervous system, Gliosis, Cerebellar atrophy, Ataxia, U... OMIM:256600
Neurodegeneration With Brain Iron Accumulation 1
Bradykinesia, Babinski sign, Akinesia, Abnormality of extrapyramidal motor function, Spasticity, ... OMIM:234200
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Cerebellar atrophy, Gait ataxia ORPHA:438134
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Difficulty walking, Blepharospasm, Upper motor neuron dy... ORPHA:306674
Pheochromocytoma/Paraganglioma Syndrome 3
Chemodectoma, Adrenal pheochromocytoma, Elevated circulating catecholamine level, Paraganglioma, ... OMIM:605373
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Carotid paraganglio... OMIM:168000
Joubert Syndrome 4
Molar tooth sign on MRI, Oculomotor apraxia, Elongated superior cerebellar peduncle, Thickened su... OMIM:609583
Rett Syndrome
Bradykinesia, Difficulty walking, Limb apraxia, Inability to walk, Gait disturbance ORPHA:778
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Bradykinesia, Difficulty walking, Truncal ataxia, Astrocytosis, Dysdiadochokinesis, Gait disturba... ORPHA:309854
Joubert Syndrome 31
Truncal ataxia, Molar tooth sign on MRI, Oculomotor apraxia OMIM:617761
Leukoencephalopathy, Progressive, With Ovarian Failure
Neurodegeneration, Cerebellar atrophy, Ataxia OMIM:615889
Meckel Syndrome 13
Molar tooth sign on MRI, Ataxia, Oculomotor apraxia OMIM:617562
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebral atrophy, Cerebral cortical neurodegeneration, Neuronal loss in central nervous system, A... OMIM:203700
Spastic Paraplegia 79B, Autosomal Recessive
Cerebral atrophy, Impaired proprioception, Impaired vibration sensation at ankles, Cerebellar atr... OMIM:615491
Combined Oxidative Phosphorylation Deficiency 24
Neuronal loss in central nervous system, Gliosis, Decreased activity of mitochondrial complex I, ... OMIM:616239
Barth Syndrome
Hypochromic microcytic anemia, Gait disturbance, Abnormal mitochondrial morphology, Cyclic neutro... OMIM:302060
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Cerebral atrophy, Abnormality of mitochondrial metabolism, Diffu... ORPHA:391428
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Chediak-Higashi Syndrome
Neutropenia, Hemophagocytosis, Hypopigmentation of hair, Silver-gray hair, Anemia, Hypopigmentati... OMIM:214500
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Gait disturbance, Lewy bodies, Ataxia, Loss of ambulation, Abnormal lower mot... OMIM:614298
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis, Inability to walk, Pontocerebellar atrophy ORPHA:258
Adrenoleukodystrophy
Limb ataxia, Impaired vibration sensation at ankles, Hyperpigmentation of the skin, Truncal ataxi... OMIM:300100
Cerebrooculofacioskeletal Syndrome 1
Brain atrophy, Gliosis, Cerebellar atrophy, Diffuse cerebral atrophy, Neurodegeneration OMIM:214150
Cockayne Syndrome Type 3
Premature graying of hair, Difficulty walking, Brain atrophy, Astrocytosis, Unsteady gait, Spleno... ORPHA:90324
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Splenomegaly, Neurodegeneration, Leukopenia, Lymphopenia OMIM:620210
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral atrophy, Pancytopenia, Chorea, Gliosis, Gait ataxia, Ataxia, Neurodegeneration, Lethargy OMIM:618321
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Cerebellar atrophy, Hypergonadotropic hypogonadism ORPHA:352447
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Axonal degeneration, Decreased activity of mitochondrial complex I, Diffuse... ORPHA:478029
Joubert Syndrome 6
Molar tooth sign on MRI, Oculomotor apraxia, Elongated superior cerebellar peduncle, Thickened su... OMIM:610688
Choreoacanthocytosis
Bradykinesia, Hypertonia, Hyperkinetic movements, Falls, Resting tremor, Chorea, Blepharospasm, P... ORPHA:2388
Joubert Syndrome 17
Molar tooth sign on MRI, Ataxia, Oculomotor apraxia OMIM:614615
Krabbe Disease
Autoimmune thrombocytopenia, Diffuse cerebral atrophy, Neurodegeneration OMIM:245200
Neuroblastoma
Anemia, Thrombocytopenia, Ataxia, Antalgic gait, Elevated circulating catecholamine level ORPHA:635
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Chorea, Neurodegeneration ORPHA:309246
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cerebral atrophy, Premature pubarche, Gait disturbance, Premature thelarche, Gait ataxia, Hypothy... OMIM:616878
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Abnormal midbrain morphology ORPHA:280195
Amyotrophic Lateral Sclerosis
Neurodegeneration, Amyotrophic lateral sclerosis, Motor neuron atrophy ORPHA:803
Ataxia-Telangiectasia-Like Disorder 2
Unsteady gait, Neurodegeneration, Cerebellar atrophy, Ataxia OMIM:615919
Pyruvate Dehydrogenase E2 Deficiency
Difficulty walking, Neurodegeneration, Gait disturbance, Broad-based gait ORPHA:79244
Japanese Encephalitis
Pill-rolling tremor, Hypertonia, Paralysis, Respiratory paralysis, Abnormality of extrapyramidal ... ORPHA:79139
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Chorea, Neurodegeneration OMIM:272750
Slc35A2-Cdg
Atrophy/Degeneration affecting the brainstem, Spastic tetraparesis, Inability to walk, Abnormal m... ORPHA:356961
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Difficulty walking, Neurodegeneration, Ataxia OMIM:618476
Oxoglutaric Aciduria
Ataxia, Abnormality of Krebs cycle metabolism ORPHA:31
Mucopolysaccharidosis, Type Ii
Abnormality of retinal pigmentation, Neurodegeneration, Splenomegaly, Hepatosplenomegaly OMIM:309900
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, B lymphocytopenia, Glioma, Cafe-au-lait spot, Progressive vitiligo, ... OMIM:251260
Cerebral Visual Impairment
Neurodegeneration, Central nervous system degeneration ORPHA:447788
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Abnormal midbrain morphology, Abnormal medulla oblongata... ORPHA:68
Hurler Syndrome
Neurodegeneration, Splenomegaly, Hepatosplenomegaly OMIM:607014
Mucopolysaccharidosis, Type Vii
Neurodegeneration, Splenomegaly OMIM:253220
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Adrenal pheochromocytoma, Pancreatic islet cell adenoma, Elevated cir... ORPHA:892
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Tip-toe gait, Broad-based gait, Falls, Hypopigmentation of the skin, Abnormality... OMIM:619475
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Hypoplasia of the brainstem, Limb hypertonia, Abnormal midbrain morphology ORPHA:444072
Duplication Of The Pituitary Gland
Lower limb spasticity, Abnormal midbrain morphology ORPHA:314621
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Gliosis, Neurodegeneration OMIM:620455
Primrose Syndrome
Delayed puberty, Hypergonadotropic hypogonadism, Hypothyroidism, Ataxia, Diabetes mellitus, Neuro... OMIM:259050
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology ORPHA:293987

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Vps35

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Vps35.

There are 9 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Multi-omic approach characterises the neuroprotective role of retromer in regulating lysosomal health. Nature communications (May 2023) Vps35tm1a(EUCOMM)Hmgu PMC10227043
Microglial VPS35 deficiency impairs Aβ phagocytosis and Aβ-induced disease-associated microglia, and enhances Aβ associated pathology. Journal of neuroinflammation (March 2022) Vps35tm1c(EUCOMM)Hmgu PMC8892702
Neuronal VPS35 deletion induces spinal cord motor neuron degeneration and early post-natal lethality. Brain communications (September 2021) Vps35tm1a(EUCOMM)Hmgu PMC8445400
Expression of Low Level of VPS35-mCherry Fusion Protein Diminishes Vps35 Depletion Induced Neuron Terminal Differentiation Deficits and Neurodegenerative Pathology, and Prevents Neonatal Death. International journal of molecular sciences (August 2021) Vps35tm1c(EUCOMM)Hmgu PMC8395035
Ependymal Vps35 Promotes Ependymal Cell Differentiation and Survival, Suppresses Microglial Activation, and Prevents Neonatal Hydrocephalus. The Journal of neuroscience : the official journal of the Society for Neuroscience (April 2020) Vps35tm1c(EUCOMM)Hmgu 32291328
Coupling of terminal differentiation deficit with neurodegenerative pathology in Vps35-deficient pyramidal neurons. Cell death and differentiation (January 2020) Vps35tm1c(EUCOMM)Hmgu PMC7308361
Increased Microglial Activity, Impaired Adult Hippocampal Neurogenesis, and Depressive-like Behavior in Microglial VPS35-Depleted Mice. The Journal of neuroscience : the official journal of the Society for Neuroscience (May 2018) Vps35tm1c(EUCOMM)Hmgu PMC6021995
Retromer in Osteoblasts Interacts With Protein Phosphatase 1 Regulator Subunit 14C, Terminates Parathyroid Hormone's Signaling, and Promotes Its Catabolic Response. EBioMedicine (May 2016) Vps35tm1c(EUCOMM)Hmgu PMC4972523
VPS35 Deficiency or Mutation Causes Dopaminergic Neuronal Loss by Impairing Mitochondrial Fusion and Function. Cell reports (August 2015) Vps35tm1a(EUCOMM)Hmgu PMC4565770

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Vps35tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Vps35em1(IMPC)H Exon Deletion Mice
Vps35tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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