Gene Summary

VPS35 retromer complex component

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 retina morphology Vps35em1(IMPC)H HET Early adult 9.45×10-06
preweaning lethality, complete penetrance Vps35em1(IMPC)H HOM   Early adult 0.00
abnormal gait Vps35em1(IMPC)H HET Early adult 4.76×10-07

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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.


XRay Images Whole Body Dorso Ventral

8 Images


XRay Images Whole Body Lateral Orientation

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.

Disease Similarity of
Matching phenotypes Source
Hereditary Late-Onset Parkinson Disease
Lewy bodies, Cerebral cortical atrophy, Shuffling gait, Akinesia, Gliosis, Bradykinesia ORPHA:411602
Parkinson Disease 17
Bradykinesia, Akinesia OMIM:614203

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

Disease Similarity of
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Retinal dystrophy, Drusen OMIM:267800
Macular Degeneration, Age-Related, 13
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen OMIM:615439
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment OMIM:617572
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
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
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex III, Impaired proprioception, Decreased activity of m... OMIM:500013
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... OMIM:312700
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... OMIM:605670
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... ORPHA:59181
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... OMIM:180210
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Abnormal lower motor neuron morphology, Gliosis, Degeneration of the latera... ORPHA:275872
Familial Infantile Bilateral Striatal Necrosis
Gait ataxia, Basal ganglia gliosis, Atrophy/Degeneration involving the caudate nucleus, Choreoath... ORPHA:225154
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Astrocytosis ORPHA:204
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Neuronal loss in central nervous system, Astrocytosis, Cerebral cortical atrophy, Gait disturbance OMIM:600795
Familial Drusen
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... ORPHA:75376
Macular Degeneration, Age-Related, 1
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... OMIM:603075
Inherited Creutzfeldt-Jakob Disease
Gait ataxia, Global brain atrophy, Chorea, Neuronal loss in central nervous system, Central nervo... ORPHA:282166
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Progressive Non-Fluent Aphasia
Lewy bodies, Frontotemporal cerebral atrophy, Abnormal lower motor neuron morphology, Neurofibril... ORPHA:100070
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Gait disturbance, Cerebral atrophy, Cerebellar atrophy, Unsteady gait ORPHA:412217
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Cerebral atrophy, Cerebellar atrophy, Neurodegeneration, Pigmentary retinopathy OMIM:610951
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinitis Pigmentosa 70
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... OMIM:615922
Retinitis Pigmentosa 50
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... OMIM:613194
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Gait ataxia, Abnormal mitochondrial shape, Diffuse cerebral atrophy, Ataxia, Cerebellar atrophy ORPHA:543470
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Gait disturbance, Frontotemporal cerebral atrophy ORPHA:275864
Neurodegeneration, Ataxia OMIM:222350
Barth Syndrome
Abnormal mitochondrial morphology, Abnormality of neutrophils ORPHA:111
Spastic Paraplegia Type 7
Impaired vibration sensation in the lower limbs, Somatic sensory dysfunction, Cerebral cortical a... ORPHA:99013
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Diabetes insipidus, Astrocytosis, Difficulty walking, Inability to walk OMIM:611087
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Oculorenocerebellar Syndrome
Retinal degeneration, Choreoathetosis OMIM:257970
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Loss of ambulation, Mitochondrial hypertrophy OMIM:619518
Supranuclear Palsy, Progressive, 1
Granulovacuolar degeneration, Gait imbalance, Falls, Akinesia, Neuronal loss in central nervous s... OMIM:601104
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Choreoathetosis, Decreased activity of mitochondrial complex III, D... ORPHA:17
Hsd10 Mitochondrial Disease
Choreoathetosis, Cerebral cortical atrophy, Abnormal mitochondrial morphology OMIM:300438
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Abnormal mitochondrial shape ORPHA:485421
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... OMIM:305390
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Bradykinesia, Increased mitochondrial number OMIM:619063
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Gait disturbance, Difficulty walking ORPHA:352470
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... OMIM:133780
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Mitochondrial swelling OMIM:618250
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Gliosis OMIM:300857
Combined Oxidative Phosphorylation Deficiency 19
Mitochondrial swelling OMIM:615595
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Dysdiadochokinesis, Ataxia, Dysmetria, Difficulty walking, Cerebellar atrophy, Atrophy/Degenerati... OMIM:612319
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Gait ataxia, Gait apraxia, Cerebral cortical atrophy, Dysdiadochokinesis, Limb ataxia, Ataxia, De... OMIM:615157
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Chorea, Cerebral cortical atrophy, Inability to walk, Ataxia, Cerebral atrophy, Cerebellar atroph... OMIM:617672
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Combined Oxidative Phosphorylation Deficiency 18
Dysmetria, Hypersegmentation of neutrophil nuclei, Increased mitochondrial number, Macrocytic ane... OMIM:615578
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Neurodegeneration With Brain Iron Accumulation 6
Tip-toe gait, Gait disturbance, Neurodegeneration, Bradykinesia OMIM:615643
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Cerebellar atrophy, U... OMIM:256600
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Cerebellar atrophy, Neurodegeneration ORPHA:438134
Paragangliomas 3
Glomus jugular tumor, Elevated circulating catecholamine level, Chemodectoma, Paraganglioma, Extr... OMIM:605373
Paragangliomas 1
Glomus jugular tumor, Elevated circulating catecholamine level, Glomus tympanicum paraganglioma, ... OMIM:168000
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Truncal ataxia, Gait disturbance, Polycythemia, Difficulty walking, Astrocyto... ORPHA:309854
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Neurodegeneration, Ataxia OMIM:615889
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abnormal mitochondrial morphology OMIM:618528
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Neuronal loss in central nervous system, Cerebellar atrophy, Gliosis, Cerebral atrophy, C... OMIM:203700
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibration sensation at ankles, Ataxia, Impaired proprioception, Dysmetria, Loss of ambul... OMIM:615491
Barth Syndrome
Fair hair, Gait disturbance, Hypochromic microcytic anemia, Cyclic neutropenia, Granulocytopenia,... OMIM:302060
Combined Oxidative Phosphorylation Deficiency 24
Neuronal loss in central nervous system, Decreased activity of mitochondrial complex IV, Gliosis,... OMIM:616239
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Lewy bodies, Chorea, Dysdiadochokinesis, Dysmetria, Neurofibrillary tangles, Cerebra... OMIM:610217
Chediak-Higashi Syndrome
Leukopenia, Anemia, Hypopigmentation of the skin, Giant melanosomes in melanocytes, Ocular albini... OMIM:214500
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Neurodegeneration With Brain Iron Accumulation 4
Lewy bodies, Gait disturbance, Ataxia, Abnormal lower motor neuron morphology, Loss of ambulation... OMIM:614298
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Lewy bodies, Bradykinesia OMIM:614251
Parkinson Disease 21
Lewy bodies, Bradykinesia OMIM:616361
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Choreoathetosis, Diffuse cerebral atrophy, Loss of ambulation, C... ORPHA:391428
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis, Pontocerebellar atrophy, Inability to walk ORPHA:258
Cerebrooculofacioskeletal Syndrome 1
Brain atrophy, Diffuse cerebral atrophy, Gliosis, Cerebellar atrophy, Neurodegeneration OMIM:214150
Impaired vibration sensation at ankles, Hypogonadism, Truncal ataxia, Limb ataxia, Primary adrena... OMIM:300100
Cockayne Syndrome Type 3
Brain atrophy, Premature graying of hair, Unsteady gait, Difficulty walking, Astrocytosis, Spleno... ORPHA:90324
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Gait ataxia, Chorea, Ataxia, Pancytopenia, Gliosis, Cerebral atrophy, Lethargy, Neurodegeneration OMIM:618321
Neurodegeneration With Brain Iron Accumulation 5
Akinesia, Cerebral atrophy, Cerebellar atrophy, Neurodegeneration, Bradykinesia OMIM:300894
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Decreased mitochondrial number, Hypergonadotropic hypogonadism ORPHA:352447
Neurodegeneration With Brain Iron Accumulation 3
Chorea, Choreoathetosis, Ataxia, Neurodegeneration, Bradykinesia OMIM:606159
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Decreased activity of mitochondrial complex III, Diffuse cerebellar atrophy... ORPHA:478029
Krabbe Disease
Neurodegeneration, Diffuse cerebral atrophy, Autoimmune thrombocytopenia OMIM:245200
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Neurodegeneration, Amyotrophic lateral sclerosis ORPHA:803
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Unsteady gait, Neurodegeneration, Ataxia OMIM:615919
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Gait ataxia, Hypothyroidism, Premature thelarche, Gait disturbance, Ataxia, Cerebral atrophy, Neu... OMIM:616878
Gm2 Gangliosidosis, Ab Variant
Chorea, Neurodegeneration, Cerebral atrophy ORPHA:309246
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Hypothyroidism, Diabetes mellitus, Increased mitochondrial number ORPHA:263297
Pyruvate Dehydrogenase E2 Deficiency
Gait disturbance, Neurodegeneration, Difficulty walking, Broad-based gait ORPHA:79244
Neurodegeneration With Brain Iron Accumulation 1
Global brain atrophy, Bradykinesia, Akinesia, Choreoathetosis, Gait disturbance, Ataxia, Cerebral... OMIM:234200
Gm2-Gangliosidosis, Ab Variant
Chorea, Neurodegeneration, Cerebral atrophy OMIM:272750
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Neurodegeneration, Difficulty walking, Ataxia OMIM:618476
Hereditary Late-Onset Parkinson Disease
Lewy bodies, Cerebral cortical atrophy, Shuffling gait, Akinesia, Gliosis, Bradykinesia ORPHA:411602
Parkinson Disease 17
Bradykinesia, Akinesia OMIM:614203
Nijmegen Breakage Syndrome
Progressive vitiligo, Cafe-au-lait spot, T lymphocytopenia, B lymphocytopenia, Glioma, Retinal pi... OMIM:251260
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Neurodegeneration, Ataxia OMIM:146500
Cerebral Visual Impairment
Central nervous system degeneration, Neurodegeneration ORPHA:447788
Mucopolysaccharidosis, Type Ii
Neurodegeneration, Splenomegaly, Abnormality of retinal pigmentation, Hepatosplenomegaly OMIM:309900
Mucopolysaccharidosis, Type Vii
Neurodegeneration, Splenomegaly OMIM:253220
Hurler Syndrome
Neurodegeneration, Splenomegaly, Hepatosplenomegaly OMIM:607014
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Elevated circulating catecholamine level, Pancreatic islet cell adeno... ORPHA:892
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hypopigmentation of the skin, Abnormality of skin pigmentation, Melanocytic nevus, Tip-toe gait, ... OMIM:619475
Primrose Syndrome
Hypothyroidism, Ataxia, Diabetes mellitus, Delayed puberty, Hypergonadotropic hypogonadism, Neuro... OMIM:259050


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 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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
VPS35 Deficiency or Mutation Causes Dopaminergic Neuronal Loss by Impairing Mitochondrial Fusion and Function. Cell reports (August 2015) Vps35tm1a(EUCOMM)Hmgu PMC4565770

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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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