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Gene: Dock3 MGI:2429763

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
dedicator of cyto-kinesis 3
Synonyms:
Moca,  PBP

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

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.

Phenotype associated images not available

Human diseases caused by Dock3 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 Dock3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Unsteady gait, Gait ataxia OMIM:618292

The table below shows human diseases predicted to be associated to Dock3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Sensory axonal neuropathy, Motor axonal neuropathy, Impaired tactil... ORPHA:98765
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Difficulty walking, Incoordination, Distal sensory impairment, Paraparesis, Tip-toe gait, Hand tr... OMIM:302800
Charcot-Marie-Tooth Disease Type 2B1
Proximal muscle weakness in lower limbs, Distal sensory impairment, Motor axonal neuropathy, Hand... ORPHA:98856
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Distal amyotrophy, Decreased motor nerve conduction velocity, Tip-toe gait, Fasciculations, Axona... OMIM:614436
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Mental deterioration, Distal amyotrophy, Cerebellar atrophy, Dementia, Chorea, Limb ataxia, Gait ... OMIM:208920
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Distal amyotrophy, Somatic sensory dysfunction, Progressive spastic p... ORPHA:101010
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Skeletal muscle atrophy, Tremor, Babinski sign, Peripheral axonal neuropathy, Cogniti... OMIM:611105
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Distal amyotrophy, Basal lamina onion bulb formation, Decreased motor... OMIM:214400
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy, Amyotrophic lateral sclerosis, Difficulty walking, Decreased compound muscle a... OMIM:602433
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Decreased number of peripheral myelinated... OMIM:604484
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Upper limb muscle weakness, Lower limb muscle weakness, Foot dorsiflexor weakness, Distal sensory... OMIM:616155
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Distal amyotro... OMIM:601596
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal sensory impairment, Poor fine motor coordination, Impaired vibratory sensation, Somatic se... ORPHA:99947
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Spinocerebellar tract degeneration, Hemiplegia/hemiparesis, Spastic ataxia, Gait d... ORPHA:2572
X-Linked Progressive Cerebellar Ataxia
Spinocerebellar tract degeneration, Cerebellar vermis atrophy, Limb ataxia, Distal lower limb amy... ORPHA:1175
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... OMIM:618138
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe... OMIM:615268
Spastic Paraplegia 2, X-Linked
Spastic paraplegia, Optic atrophy, Skeletal muscle atrophy, Spinocerebellar tract degeneration, L... OMIM:312920
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal amyotrophy, Distal sensory impairment, Axonal degeneration, Decreased number of peripheral... OMIM:606482
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Decreased motor nerve conduction velocity, Decreased muscle mass, Inability to ... OMIM:615490
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morpholo... ORPHA:98762
Nescav Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Cerebellar ve... OMIM:614255
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Cerebral atrophy, Chorea, Peripheral demyelination, Pe... OMIM:604168
Spinocerebellar Ataxia 18
Cerebellar atrophy, Sensory axonal neuropathy, Skeletal muscle atrophy, Limb muscle weakness, Tre... OMIM:607458
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tongue fasciculations, Spasticity, Global brain atrophy, Cerebellar atrophy, Skeletal muscle atro... OMIM:618276
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Abnormal cortical gyration, Spinal cord posterior columns myelin loss,... ORPHA:98756
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Mental deterioration, Difficulty walking, Impaired vibration sensation in the lower limbs, Loss o... ORPHA:137898
Autosomal Dominant Spastic Paraplegia Type 38
Frontotemporal cerebral atrophy, Progressive spastic paraplegia, Impaired vibration sensation in ... ORPHA:171617
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraparesis, Foot dorsi... ORPHA:496756
Mitochondrial Dna Depletion Syndrome 18
Tongue fasciculations, Distal amyotrophy, Falls, Foot dorsiflexor weakness, Hand muscle atrophy, ... OMIM:618811
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Impaired vibration sensation in the lower limbs, Abnormal sensory nerve condu... ORPHA:88628
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor ORPHA:217012
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Generalized dystonia, Inability to walk, Cerebellar vermis atrophy, Periphera... OMIM:619389
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Plantar flexion contracture, Foot dors... OMIM:620011
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebral cortical atrophy, Falls, Resting tremo... OMIM:617225
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Spasticity, Distal amyotrophy, Sensory axonal neuropathy, Impaired pain sensa... ORPHA:139578
Spinocerebellar Ataxia 14
Mental deterioration, Memory impairment, Cerebellar atrophy, Gait ataxia, Dysmetria, Facial myoky... OMIM:605361
Epilepsy, Progressive Myoclonic, 8
Progressive neurologic deterioration, Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, M... OMIM:616230
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... OMIM:615768
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... OMIM:613908
Spinocerebellar Ataxia 12
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dysto... OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal amyotrophy, Cerebellar atrophy, Gait ataxia, Limb muscle weakness, Dysmetria, Distal senso... OMIM:618387
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Distal amyotrophy, Cerebellar atrophy, Lower limb muscle weakness, Fasciculations, Ga... OMIM:607317
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Cerebellar atrophy, Lower limb muscle weakness, Dysmetria, Ankle clonus, Babi... OMIM:610357
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Mental deterioration, Cerebellar atrophy, Confusion, Myoclonus, Gait a... OMIM:615362
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Peripheral axonal neuropa... OMIM:615957
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Spasticity, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ... ORPHA:284332
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Foot dorsiflexor weakness, Spin... OMIM:617207
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Progressive cerebellar ataxia OMIM:611694
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Mast Syndrome
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Lower limb muscle ... OMIM:248900
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Giant somatosensory evoked potentials, Myoclonu... OMIM:618876
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... ORPHA:276193
Cerebellar Ataxia, Cayman Type
Broad-based gait, Cerebellar atrophy, Skeletal muscle atrophy, Gait ataxia, Dystonia, Cerebellar ... OMIM:601238
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Global brain atrophy, Distal amyotrophy, Spinocerebellar tract degene... ORPHA:94124
Spastic Ataxia 2, Autosomal Recessive
Mental deterioration, Spasticity, Distal amyotrophy, Cerebellar atrophy, Cerebral atrophy, Fascic... OMIM:611302
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Impaired vibratory sensation, Distal amyotrophy, Cerebellar atrophy, Decreased motor nerv... OMIM:607250
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Vocal cord paresis, Proximal muscle weakness in lower limbs, Peripheral demyelination, Distal sen... ORPHA:101097
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Mental deterioration, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Ataxia OMIM:610951
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Cerebellar atrophy, Myoclonus, Tremor, Ataxia OMIM:616187
Autosomal Dominant Spastic Paraplegia Type 8
Peroneal muscle atrophy, Progressive spastic paraplegia, Lower limb muscle weakness, Difficulty w... ORPHA:100989
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb d... ORPHA:363710
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreas... OMIM:601098
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... OMIM:616948
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxi... OMIM:614322
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, My... OMIM:256731
Dystonia 23
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Limb dystonia, Myoclonus, Axial dysto... OMIM:614860
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Confusion, Chorea, Limb ataxia, Positive Romberg sign, Gait... OMIM:607136
Autosomal Dominant Spastic Paraplegia Type 42
Progressive spastic paraplegia, Lower limb muscle weakness, Impaired vibration sensation in the l... ORPHA:171863
Autosomal Dominant Spastic Paraplegia Type 19
Progressive spastic paraplegia, Lower limb muscle weakness, Difficulty walking, Impaired vibratio... ORPHA:100999
Spastic Paraplegia 85, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Upper limb spasticity, Optic atrophy, Cerebella... OMIM:619686
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Cerebellar atrophy, Lateral ventricle dilatation, Hand tremor, Neurodegeneration, Bab... OMIM:615889
Spinocerebellar Ataxia Type 17
Blepharospasm, Mental deterioration, Involuntary movements, Spasticity, Cerebellar atrophy, Chore... ORPHA:98759
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Mental deterioration, Cerebellar atrophy, Cerebral atrophy... OMIM:617672
Spinocerebellar Ataxia 49
Cerebellar atrophy, Sensory axonal neuropathy, Dysmetria, Abnormality of extrapyramidal motor fun... OMIM:619806
Dystonia 22, Juvenile-Onset
Mental deterioration, Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tre... OMIM:620453
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Mental deterioration, Memory impairment, Cerebellar dentate nucleus calcification, Chorea, Dysmet... OMIM:618317
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Cerebellar atrophy, Cerebral atrophy, Positive Romberg sign, Dysmetria, Weakness of f... OMIM:618088
Spastic Paraplegia 7, Autosomal Recessive
Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, Degeneration of the ... OMIM:607259
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic paraplegia, Optic atrophy, Mental deterioration, Cerebellar atrophy, Difficulty walking, ... OMIM:612319
Behr Syndrome
Optic atrophy, Cerebellar atrophy, Sensory axonal neuropathy, Cerebellar vermis atrophy, Hamstrin... OMIM:210000
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Broad-based gait, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Pachygyria, Gait ata... OMIM:224050
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Mental deterioration, Cerebellar atrophy, Hand ... OMIM:614409
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Spasticity, Spastic paraparesis, Cerebellar atrophy, Distal lower limb amyotrophy,... OMIM:616680
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Shuffling gait, Cerebellar atrophy, Sensory axonal neuropathy, Cerebral atrophy, H... ORPHA:254886
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclon... OMIM:619862
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Abnormal tendon morphology, Cere... ORPHA:320391
Spinocerebellar Ataxia Type 1
Cognitive impairment, Bradykinesia, Progressive cerebellar ataxia, Slurred speech, Memory impairm... ORPHA:98755
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Mental deterioration, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal p... OMIM:617145
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Decreased nerve conduct... OMIM:604320
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Spastic paraplegia, Cerebellar atrophy, Lower limb muscle weakness, Impaired vibration sensation ... OMIM:607565
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab... ORPHA:101110
Autosomal Dominant Spastic Paraplegia Type 37
Progressive spastic paraplegia, Lower limb muscle weakness, Difficulty walking, Impaired vibratio... ORPHA:171612
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... OMIM:616127
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Cerebellar atrophy, Cerebral atrophy, Action tremor, Rigidity, Babinski sign, ... OMIM:300423
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Multiple joint contractures, Tremor, Ankle clon... ORPHA:521406
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Spinocerebellar tract degeneration, Cerebral atrophy, Tremor, Dysmetria, Loss... OMIM:617916
Childhood-Onset Spasticity With Hyperglycinemia
Optic atrophy, Spastic dysarthria, Myoclonus, Short attention span, Spinal cord lesion, Babinski ... ORPHA:401866
Autosomal Recessive Spastic Paraplegia Type 78
Cerebral cortical atrophy, Cerebellar atrophy, Sensory axonal neuropathy, Progressive spastic par... ORPHA:513436
Adrenomyeloneuropathy
Spasticity, Memory impairment, Leg muscle stiffness, Progressive spastic paraparesis, Distal sens... ORPHA:139399
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Cerebellar atrophy, Myoclonus, Short attention span, Tremor, Dy... OMIM:619028
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Babinski s... OMIM:616204
Spastic Paraplegia Type 7
Optic atrophy, Cerebral cortical atrophy, Memory impairment, Cerebellar atrophy, Somatic sensory ... ORPHA:99013
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Spasticity, Difficulty walking, Impaired tactile sensation, Abnormal pyramidal sign, Ataxia, Unst... ORPHA:98
Spinocerebellar Ataxia 5
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ... OMIM:600224
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor OMIM:608029
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Cognitive im... OMIM:615157
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Cerebellar atrophy, Distal amyotrophy, Lower limb muscle weaknes... OMIM:614487
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal a... ORPHA:79263
Spinocerebellar Ataxia Type 27
Memory impairment, Cerebellar atrophy, Sensory axonal neuropathy, Hand tremor, Difficulty walking... ORPHA:98764
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Myelopathy, Resting tremor, Tendon xanthomatosis, Parkinsonism, ... ORPHA:909
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Peripheral axon... OMIM:619425
Spinocerebellar Ataxia 11
Cerebellar atrophy, Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebel... OMIM:604432
Spinocerebellar Ataxia 50
Froment sign, Memory impairment, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural ... OMIM:620158
Neurodegeneration With Brain Iron Accumulation 4
Mental deterioration, Spasticity, Neurodegeneration, Motor axonal neuropathy, Loss of ambulation,... OMIM:614298
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Myoclonus, Cogn... OMIM:607346
Ataxia, Sensory, 1, Autosomal Dominant
Decreased amplitude of sensory action potentials, Dysesthesia, Abnormal cerebellum morphology, Po... OMIM:608984
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Impaired vibratory sensation, Spastic paraplegia, Proximal muscle weakness in lower limbs, Cerebe... OMIM:620538
Spinocerebellar Ataxia 1
Spasticity, Cognitive impairment, Optic disc pallor, Progressive cerebellar ataxia, Impaired vibr... OMIM:164400
Spinocerebellar Ataxia 2
Spasticity, Action tremor, Parkinsonism, Ataxia, Unsteady gait, Bradykinesia, Progressive cerebel... OMIM:183090
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Gait ataxia, Myoclonus, ... ORPHA:248111
Spinocerebellar Ataxia 46
Cerebellar atrophy, Sensory axonal neuropathy, Limb ataxia, Gait ataxia, Positive Romberg sign, D... OMIM:617770
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Peripheral demyelination, Loss of ambulation, Clonus, Ataxia, Un... OMIM:614877
Huntington Disease
Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Neuronal loss in central nervous system, Demen... OMIM:143100
Spastic Paraplegia 39, Autosomal Recessive
Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraplegia, Distal lower limb muscle w... OMIM:612020
Amyotrophy, Hereditary Neuralgic
Brachial plexus neuropathy, Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degen... OMIM:162100
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral cortical atrophy, Spasticity, Mental deterioration, Cerebellar atrophy, Gait imbalance, ... OMIM:618369
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Cerebellar atrophy, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, Dysdiado... OMIM:615386
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Head tremor, Positive Romberg sign, Hand muscle atrophy,... ORPHA:101085
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, Gait ataxia,... ORPHA:512260
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Oculom... ORPHA:208513
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... OMIM:616795
De Sanctis-Cacchione Syndrome
Optic atrophy, Spasticity, Global brain atrophy, Mental deterioration, Cerebral atrophy, Olivopon... OMIM:278800
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Progressive psychomotor deterioration, C... ORPHA:1170
Autosomal Recessive Spastic Paraplegia Type 39
Spastic paraplegia, Cerebellar atrophy, Generalized limb muscle atrophy, Gait ataxia, Motor axona... ORPHA:139480
Spastic Ataxia, Charlevoix-Saguenay Type
Spasticity, Progressive truncal ataxia, Impaired vibration sensation in the lower limbs, Distal s... OMIM:270550
Spinocerebellar Ataxia 48
Mental deterioration, Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, ... OMIM:618093
Superficial Siderosis
Lower limb muscle weakness, Abnormality of the brachial nerve plexus, Abnormal pyramidal sign, Co... ORPHA:247245
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Optic atrophy, Involuntary movements, Increased varia... ORPHA:401768
Neurodegeneration With Brain Iron Accumulation 5
Mental deterioration, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Neurodegeneratio... OMIM:300894
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Abnormal exteroceptive sensation, ... OMIM:205100
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, Distal amyotrophy, Cerebellar atrophy, Spinocerebellar ... OMIM:109150
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Cerebellar atrophy, Distal amyotrophy, Lower limb muscle weaknes... ORPHA:313772
Autosomal Dominant Spastic Paraplegia Type 12
Progressive spastic paraplegia, Lower limb muscle weakness, Difficulty walking, Impaired vibratio... ORPHA:100993
Spastic Paraplegia 79B, Autosomal Recessive
Tetraparesis, Neurodegeneration, Loss of ambulation, Ataxia, Impaired vibratory sensation, Spasti... OMIM:615491
Spinocerebellar Ataxia 13
Optic atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Limb dysmetria, Myoclonu... OMIM:605259
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Impaired vibratory sensation, Cerebellar atrophy, Impaired pain sensation, Cerebellar vermis atro... OMIM:614575
X-Linked Cerebral Adrenoleukodystrophy
Mental deterioration, Myelopathy, Difficulty walking, Hamstring contractures, Facial myokymia, He... ORPHA:139396
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Spasticity, Cerebellar atrophy, Limb ataxia, Limb dystonia, Abnormal pyramidal sign, Head titubat... OMIM:617560
Autosomal Spastic Paraplegia Type 58
Spasticity, Peripheral demyelination, Spastic ataxia, Abnormal pyramidal sign, Clonus, Torticolli... ORPHA:397946
Spastic Ataxia 3, Autosomal Recessive
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia... OMIM:611390
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Spasticity, Global brain atrophy, Cerebellar atrophy, Axonal degeneration, Dystoni... OMIM:616811
Null Syndrome
Optic atrophy, Progressive spastic paraplegia, Difficulty walking, Inability to walk, Peripheral ... ORPHA:280234
Machado-Joseph Disease Type 3
Spasticity, Degeneration of the striatum, Peripheral axonal neuropathy, Abnormal pyramidal sign, ... ORPHA:276244
Boucher-Neuhauser Syndrome
Spasticity, Distal amyotrophy, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait a... OMIM:215470
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi... OMIM:617633
Spinocerebellar Ataxia 29
Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, C... OMIM:117360
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Spasticity, Arm dystonia, Cerebellar atrophy, Sensory axonal neurop... ORPHA:88644
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Somatic sensory dysfunction, Skeletal muscle atrophy, Head tremor, Gait ataxi... ORPHA:98771
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Shuffling gait, Memory impairment, Resting tremor, Akinesia, Gait ataxia, Intention t... ORPHA:247234
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Myoclon... ORPHA:478029
Autosomal Dominant Spastic Paraplegia Type 41
Progressive spastic paraplegia, Hand muscle weakness, Degeneration of the lateral corticospinal t... ORPHA:320355
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Difficulty walking, Muscle fiber atrophy, Axial dystonia, Opisthot... ORPHA:300605
Machado-Joseph Disease Type 1
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Spinocerebellar tract degeneration,... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Spinocerebellar tract degeneration,... ORPHA:276241
Ataxia With Vitamin E Deficiency
Short term memory impairment, Tendon xanthomatosis, Cerebellar atrophy, Positive Romberg sign, Dy... OMIM:277460
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Neurodegeneration, Chorea, Tremor, Rigidity, Dysto... OMIM:606159
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Memory impairment, Dysdiadochokinesis, Limb ataxia, Gait at... ORPHA:101
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Decreased nerve conduction velo... OMIM:612674
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Abnormality of the spinocerebellar tracts, Gait imbalance, Limb dysmetri... ORPHA:329336
Ataxia-Telangiectasia-Like Disorder 1
Distal amyotrophy, Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Dystonia, Lower limb spast... OMIM:604391
Fragile X Tremor/Ataxia Syndrome
Mental deterioration, Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Memory im... OMIM:300623
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Spasticity, Cerebellar atrophy, Intention tremor, Dysmetria, Progressive gait ataxia, Truncal ata... ORPHA:352403
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Limb ataxia, Gait ataxia... OMIM:603516
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Broad-based gait, Joint contracture of the hand, Skeletal muscle atrophy, Impaired... OMIM:609033
Spinocerebellar Ataxia 34
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait atax... OMIM:133190
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in lower limbs, Joint contracture of the hand, Difficulty walking, Motor... ORPHA:466768
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Distal amyotrophy, Cerebellar atrophy, Decreased motor nerve conduction velocity, Chorea, Limb at... OMIM:606002
Spinocerebellar Ataxia 21
Mental deterioration, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rig... OMIM:607454
Gerstmann-Straussler Disease
Spasticity, Memory impairment, Cerebellar atrophy, Lower limb muscle weakness, Limb ataxia, Gait ... OMIM:137440
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... OMIM:609270
Spinocerebellar Ataxia 6
Cerebral cortical atrophy, Cerebellar atrophy, Frequent falls, Incoordination, Dysmetria, Loss of... OMIM:183086
Autosomal Dominant Spastic Paraplegia Type 9A
Memory impairment, Falls, Dementia, Impaired vibration sensation in the lower limbs, Abnormal cer... ORPHA:447753
Fatty Acid Hydroxylase-Associated Neurodegeneration
Optic atrophy, Mental deterioration, Falls, Cerebellar atrophy, Progressive spastic paraplegia, P... ORPHA:329308
Ataxia-Oculomotor Apraxia 3
Distal amyotrophy, Cerebellar atrophy, Distal sensory impairment, Dysmetria, Peripheral axonal ne... OMIM:615217
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia,... ORPHA:98772
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia OMIM:614229
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Autonomic bladder dysfunction, Action tremor, Distal sensory impairment... ORPHA:99027
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Spasticity, Mental deterioration, Cerebellar atrophy, Cerebral atrophy, Neurodegen... OMIM:610217
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebellar atrophy, Decreased motor nerve conduction velocity, Cerebral atrophy, Gait ataxia, Bab... OMIM:616192
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Autosomal Recessive Spastic Paraplegia Type 35
Mental deterioration, Difficulty walking, Peripheral demyelination, Cognitive impairment, Spastic... ORPHA:171629
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ... ORPHA:370022
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebellar ... ORPHA:98760
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebral cortical atrophy, Cerebellar atrophy, Neck muscle hypertrophy, Difficulty walking, Head ... ORPHA:420492
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Cerebellar atrophy, Oculomotor apraxia, Abnormal pyramidal sign, Te... OMIM:616267
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Neurodegeneration, Tremor, Rigidity, Olivopontocerebellar atrophy, Babin... OMIM:146500
Secondary Syringomyelia
Facial paralysis, Somatic sensory dysfunction, Pseudobulbar paralysis, Difficulty walking, Parapl... ORPHA:99857
Foix-Alajouanine Syndrome
Cervical myelopathy, Myelitis, Myelopathy, Somatic sensory dysfunction, Lower limb muscle weaknes... ORPHA:79093
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Optic atrophy, Spasticity, Mental deterioration, Cerebellar atrophy, Resting tremor, Cerebral atr... ORPHA:314404
Angioedema, Hereditary, 1
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Arachnoid Cyst
Memory impairment, Chiari malformation, Lower limb muscle weakness, Tetraparesis, Inability to wa... ORPHA:2356
Kanzaki Disease
Cerebral atrophy, Distal sensory impairment, Axonal degeneration, Peripheral axonal neuropathy, C... OMIM:609242
Acute Disseminated Encephalomyelitis
Mental deterioration, Involuntary movements, Myelitis, Somatic sensory dysfunction, Confusion, Ab... ORPHA:83597
Cysticercosis
Mental deterioration, Memory impairment, Somatic sensory dysfunction, Dementia, Spinal arachnoid ... ORPHA:1560
Spinal Cord Injury
Spasticity, Somatic sensory dysfunction, Syringomyelia, Spinal cord lesion, Weakness due to upper... ORPHA:90058
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology, Cognitive impairment ORPHA:494
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormal medulla oblongata morphology, Confusion, Abnormal cerebellum morpho... ORPHA:68
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormal medulla oblongata morphology, Incoordination, Abnormality ... OMIM:601992
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Unsteady gait, Gait ataxia OMIM:618292
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Paraparesis, Spinal arteriovenous malformation ORPHA:53721
Solitary Bone Cyst
Muscular edema, Abnormal spinal cord morphology ORPHA:83468
Primary Sjögren Syndrome
Somatic sensory dysfunction, Chorea, Abnormal cerebellum morphology, Increased circulating antibo... ORPHA:289390
Tetrasomy 9P
Polymicrogyria, Myositis, Abnormal spinal cord morphology, Dandy-Walker malformation, Pachygyria,... ORPHA:3310
Limb Body Wall Complex
Diastasis recti, Congenital diaphragmatic hernia, Abnormal spinal cord morphology, Spina bifida, ... ORPHA:2369
Mosaic Trisomy 20
Abnormal spinal cord morphology ORPHA:1724

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 Dock3

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 Dock3.

No publications found that use IMPC mice or data for Dock3.

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
Dock3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Dock3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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