Gene Summary

Name:
coiled-coil domain containing 125
Synonyms:
5830436D01Rik

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
tremors Ccdc125em1(IMPC)Hmgu HOM Early adult 3.11×10-07

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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.

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Ccdc125 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ccdc125 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Glutathionuria
Tremor OMIM:231950
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus OMIM:611092
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Parkinson Disease 17
Tremor, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:168100
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Chorea, Paroxysmal dyskinesia OMIM:611031
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Hemiballismus ORPHA:494526
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Rigidity OMIM:617018
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... OMIM:614561
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra... OMIM:260300
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Dystonia 27
Postural tremor, Action tremor OMIM:616411
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Parkinson Disease 22, Autosomal Dominant
Tremor, Resting tremor, Bradykinesia OMIM:616710
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Upp... ORPHA:101110
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Chorea, Benign Familial
Chorea OMIM:215450
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign OMIM:300660
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Parkinson Disease 19A, Juvenile-Onset
Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:615528
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Truncal ataxia, Dysmetria OMIM:616127
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:600116
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea OMIM:616939
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Poor fine motor coordination, Abnormal pyramidal sign, Ataxia, B... ORPHA:98762
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Tremor, Ataxia OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, Spasticity OMIM:607317
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Torticollis, Dys... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Babinski sign, Spasticity OMIM:615768
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign OMIM:615362
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Intention tremor, Frequent falls, Spastic dysarthria, ... ORPHA:314978
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Parkinsonism... OMIM:128230
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Sp... OMIM:270500
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Parkinsonism ORPHA:210571
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis OMIM:159900
Primary Dystonia, Dyt13 Type
Postural tremor, Action tremor, Torticollis, Stereotypy, Involuntary movements ORPHA:98807
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Babinski sign, Dysmetria OMIM:610245
Dystonia 24
Head tremor, Torticollis, Blepharospasm OMIM:615034
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Ataxia, Spasticity OMIM:615889
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Intention tremor, Babinski sign, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Myoclonus ORPHA:363710
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor OMIM:615048
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Babinski sign, Clonus OMIM:600363
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyki... ORPHA:314632
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Dysmetria, Intention tremor OMIM:616053
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Myoclonus, Rigidity ORPHA:98763
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Lower limb spa... ORPHA:251282
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Spasticity OMIM:615924
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Bradykinesia, Action tremor, Parkinsonism, Babinski sign OMIM:300423
Behr Syndrome
Tremor, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Torticollis, Upper limb postural tremor, Myoclonus, Hand tremor, Vocal tremor ORPHA:420485
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Head tremor, Action tremor, Progressive cerebellar ataxia, Parkinsonism, Dysm... OMIM:604326
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Blepharospasm, Torticollis OMIM:224500
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Myoclonus ORPHA:86814
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:605909
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Dysmetria, Spasticity OMIM:213200
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Ankle clonus, Bradykinesia, Babinski sign... ORPHA:363654
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Action tremor ORPHA:464440
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Encephalopathy, Recurrent, Of Childhood
Incoordination, Truncal ataxia, Chorea, Babinski sign, Intention tremor, Athetosis, Choreoathetosis OMIM:130950
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Speech apraxia, Bradykinesia, Progressive extrapyramidal ... ORPHA:454887
Hypermanganesemia With Dystonia 2
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Spasticity OMIM:617013
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:612953
Epilepsy, Progressive Myoclonic, 6
Tremor, Myoclonus, Ataxia OMIM:614018
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Choreoathetosis, Myoclonus OMIM:261630
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Frequent falls, Spasticity OMIM:616719
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor ORPHA:210128
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Spasticity ORPHA:521406
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Chorea, Abnormal pyramidal sign, Parkinsonism, Upper motor neuron dysfunction... ORPHA:216873
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Myoclonus, Dysmetria OMIM:619028
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Torticol... ORPHA:397946
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Myoclonus OMIM:608105
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Myopathy With Extrapyramidal Signs
Chorea, Tremor, Ataxia, Abnormality of extrapyramidal motor function OMIM:615673
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia, Parkinso... OMIM:300894
Primary Dystonia, Dyt2 Type
Involuntary movements, Tremor, Blepharospasm, Torticollis ORPHA:99657
Glut1 Deficiency Syndrome 2
Tremor, Choreoathetosis, Ataxia OMIM:612126
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity OMIM:615010
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Resting tremor, Bradykinesia, Rigidity ORPHA:306692
Huntington Disease-Like 2
Chorea, Rigidity, Bradykinesia, Action tremor OMIM:606438
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Limb dysmetria, Chorea, Abnormal pyramidal sign, Bradykinesia, Parkin... OMIM:213600
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Chorea, Ataxia, Parkinsonism, Dysmetria, Babinski sign OMIM:618093
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Dysmetria OMIM:618090
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Choreoathetosis OMIM:261640
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Myoclonus, Intention tremor OMIM:254900
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Myoclonus OMIM:618587
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Tremor, Gait ataxia, Ataxia OMIM:618387
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Familial Dyskinesia And Facial Myokymia
Chorea, Limb hypertonia, Resting tremor, Myoclonus ORPHA:324588
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Rigidity, Ataxia, Bradykinesia OMIM:617836
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Oculomotor apraxia, Ataxia, Choreoathetosis, Spasticity OMIM:612716
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Oculomotor apraxia... OMIM:617145
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Abnormality of extrapyramidal motor function, Progressive cerebellar ataxia,... ORPHA:98773
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Tongue fasciculations, Myoclonus, Fasciculations, Frequent falls OMIM:159950
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Hypertonia, Rigidity, Spasticity OMIM:176500
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Ataxia, Rigidity, Spasticity ORPHA:33445
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor OMIM:616668
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Spasticity OMIM:300983
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia ORPHA:101075
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Abnormal pyramidal sign, Incoordination, Ataxia OMIM:614947
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Tongue fasciculations, Tremor ORPHA:276435
Cystathioninuria
Tremor ORPHA:212
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Ataxia, Bradykinesia, D... OMIM:615157
Leukodystrophy, Hypomyelinating, 6
Tremor, Rigidity, Ataxia, Choreoathetosis, Spasticity OMIM:612438
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Hypertonia, Hemiballismus, Head titubation,... OMIM:618877
Dystonia 13, Torsion, Autosomal Dominant
Tremor, Blepharospasm, Torticollis OMIM:607671
Spinocerebellar Ataxia 8
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Lopes-Maciel-Rodan Syndrome
Tremor, Hypertonia, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Spasticity OMIM:617435
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Abnormal pyramidal sign, Myoclonus ORPHA:139485
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Pa... OMIM:607060
Dyskinesia, Familial, With Facial Myokymia
Chorea, Limb hypertonia, Resting tremor OMIM:606703
Myopathy, Spheroid Body
Tremor OMIM:182920
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Choreoathetosis, Chorea, Blepharospasm, Ataxia, Bradykinesia, Parkinsonism, Babinski sign... OMIM:606159
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Oculomotor apr... ORPHA:99750
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Spastic paraparesis, Bradykinesia, Parkinsonism, Rigidity ORPHA:329284
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia ORPHA:240085
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Chorea, Poor fine motor coordination, Ataxia, Myoclonus, Dysmetria, Myoclonic... ORPHA:79263
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Ataxia, Myoclonus, Choreoathetosis ORPHA:391417
X-Linked Dystonia-Parkinsonism
Frequent falls, Parkinsonism with favorable response to dopaminergic medication, Chorea, Blepharo... ORPHA:53351
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia ORPHA:101078
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Tremor, Babinski sign, Spasticity OMIM:609260
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Babinski sign OMIM:616795
Dystonia 7, Torsion
Torticollis, Blepharospasm, Clumsiness, Hand tremor OMIM:602124
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Apraxia, Gait ataxia, Dysmetria, Spasticity OMIM:617810
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Limb ataxia, Oculomotor apraxia, Bradykinesia, Action tremor... OMIM:183090
Atypical Juvenile Parkinsonism
Gait ataxia, Abnormal pyramidal sign, Resting tremor, Bradykinesia, Myoclonus, Slowed slurred spe... ORPHA:391411
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis OMIM:300055
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dysmetria, Spasticity ORPHA:1170
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Parkinsonism, Hemiparesis, Bradykinesia ORPHA:306669
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Para... OMIM:606693
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dysmetria OMIM:614831
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tremor, Babinski sign, Tetraplegia, Spasticity OMIM:616586
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Clumsiness, Eyelid myoclonus, Myoclonus, Frequent falls, Limb myoclonus ORPHA:2590
Perry Syndrome
Tremor, Parkinsonism, Abnormality of extrapyramidal motor function ORPHA:178509
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Choreoathetosis OMIM:233910
Atypical Rett Syndrome
Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Hand apraxia, Tongue thrusting, Involuntary mo... ORPHA:3095
Developmental And Epileptic Encephalopathy 42
Tremor, Hypertonia, Ataxia, Athetosis OMIM:617106
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Dysmetria OMIM:610185
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
Gerstmann-Straussler Disease
Tremor, Apraxia, Truncal ataxia, Gait ataxia, Limb ataxia, Bradykinesia, Parkinsonism, Myoclonus,... OMIM:137440
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Tremor, Ataxia ORPHA:99014
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Hand tremor ORPHA:98764
Crigler-Najjar Syndrome Type 1
Tremor ORPHA:79234
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Stereotypy OMIM:619092
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Abnormality of extrapyramidal motor function, Palatal myoclonus, Torticol... ORPHA:99
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Myoclonus, Ataxia OMIM:607876
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor OMIM:313200
Multiple System Atrophy
Postural tremor, Gait ataxia, Abnormal pyramidal sign, Resting tremor, Bradykinesia, Progressive ... ORPHA:102
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, Spastic hemiparesis, Slurred speech, Chorea, Abnormal pyramidal ... ORPHA:282166
Hypermanganesemia With Dystonia 1
Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Poor fine motor coordi... OMIM:613280
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand tremor, Paraparesis, Dysmetria, Babinski sign, Frequent falls OMIM:302800
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Tremor, Hypertonia, Abnormal pyramidal sign, Ataxia, Hemiplegia/hemiparesis, ... ORPHA:96
Sneddon Syndrome
Chorea, Tremor, Hemiparesis ORPHA:820
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Oculomotor apraxia, Ataxia, Choreoathetosis OMIM:208920
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Peroxisome Biogenesis Disorder 5B
Dysmetria, Tremor, Oculomotor apraxia, Ataxia OMIM:614867
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Babinski sign ORPHA:477673
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:615530
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia... ORPHA:289494
Neuronal Intranuclear Inclusion Disease
Tremor, Rigidity, Ataxia OMIM:603472
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Clumsiness, Truncal ataxia, Spastic ataxia, Hypertonia, Poor fine motor coordination, Slu... ORPHA:137898
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoc... ORPHA:363400
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Tremor, Bradykinesia, Limb hypertonia, Rigidity, Cerebral palsy ORPHA:70594
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Cogwheel rigidity, Gait ataxia, Chorea, Hypertonia, Abnormal pyramidal sign, Tetraparesis, Parapa... OMIM:607483
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia OMIM:618060
Waisman Syndrome
Cogwheel rigidity, Parkinsonism, Resting tremor, Bradykinesia OMIM:311510
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Tremor, Parkinsonism, Resting tremor ORPHA:3077
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Stereotypy, Spasticity OMIM:618718
Cln5 Disease
Dysdiadochokinesis, Tremor, Abnormal central motor function, Clumsiness, Truncal ataxia, Ataxia, ... ORPHA:228360
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Oculomotor apraxia, Dysmetria, Spasticity ORPHA:529665
Pelizaeus-Merzbacher Disease
Tremor, Progressive spastic quadriplegia, Abnormal pyramidal sign, Head titubation, Ataxia, Chore... OMIM:312080
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Dysmetria, Intention tremor, Babinski sign OMIM:616505
Sneddon Syndrome
Hemiplegia, Tremor OMIM:182410
O'Sullivan-Mcleod Syndrome
Fasciculations, Tremor ORPHA:99965
Dystonia 1, Torsion, Autosomal Dominant
Tremor, Hypertonia, Blepharospasm, Torticollis OMIM:128100
Amish Nemaline Myopathy
Tremor ORPHA:98902
Parkinsonism-Dystonia, Infantile, 2
Tremor, Gait ataxia, Parkinsonism, Incoordination OMIM:618049
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Clumsiness, Spastic paraparesis, Slurred speech, Spastic diplegia, Ataxia, Lo... ORPHA:206443
Generalized Epilepsy With Febrile Seizures-Plus
Tremor, Incoordination, Poor fine motor coordination, Ataxia, Bradykinesia ORPHA:36387
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Gait ataxia, Abnormal vestibulo-ocular reflex, Resting tremor, Ataxia, Parkin... ORPHA:247234
Congenital Bile Acid Synthesis Defect Type 4
Tremor ORPHA:79095
Spontaneous Periodic Hypothermia
Tremor, Ataxia ORPHA:29822
Nipah Virus Disease
Tremor, Myoclonus ORPHA:99825
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity OMIM:304700
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Tremor, Abnormality of coordination, Hypertonia, Spastic tetraparesis, Ataxia... ORPHA:352649
Pyruvate Dehydrogenase Deficiency
Tremor, Abnormal pyramidal sign, Ataxia, Choreoathetosis, Cerebral palsy, Spasticity ORPHA:765
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Ataxia, Limb hypertonia, Myoclonus, Involuntary movements, R... ORPHA:442835
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal pyramidal sign, Resting tremor, Parkinsonism, Rigidity, Spasticity OMIM:616840
Classic Progressive Supranuclear Palsy Syndrome
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormal pyramidal sign,... ORPHA:240071
Parkinson Disease, Late-Onset
Tremor, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:168600
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Gait ataxia, Hypertonia, Dysmetria, Truncal titubation OMIM:618056
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Tremor, Spastic tetraplegia OMIM:612164
Adult-Onset Autosomal Dominant Leukodystrophy
Dysdiadochokinesis, Tremor, Gait ataxia, Hypertonia, Abnormal pyramidal sign, Tetraparesis, Head ... ORPHA:99027
Nemaline Myopathy 5
Tremor OMIM:605355
Classic Phenylketonuria
Hemiplegia, Hypertonia, Paraplegia, Tremor ORPHA:79254
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tremor, Babinski sign ORPHA:83629
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Hemiparesis, Ataxia, Paraplegia, Spasticity OMIM:105210
Aceruloplasminemia
Tremor, Gait ataxia, Chorea, Limb ataxia, Blepharospasm, Ataxia, Torticollis, Parkinsonism, Invol... ORPHA:48818
Tetanus
Tremor, Hypertonia, Spasticity of pharyngeal muscles, Opisthotonus, Rigidity ORPHA:3299
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Clumsiness, Progressive extrapyramidal movement disorder, Parkinsonism wi... ORPHA:199351
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Gait ataxia, Head tremor, Chorea, Progressive gait ataxia, Abnormal pyramidal sign, Oculo... OMIM:606002
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Tremor, Hypertonia, Parkinsonism, Cerebral palsy ORPHA:1578
Perry Syndrome
Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:168605
Progressive Supranuclear Palsy
Tremor, Blepharospasm, Rigidity, Bradykinesia ORPHA:683
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Tremor, Tetraparesis, Ataxia OMIM:617186
Multiple System Atrophy 1, Susceptibility To
Tremor, Ataxia, Bradykinesia, Parkinsonism, Babinski sign, Rigidity OMIM:146500
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Neurodegeneration With Brain Iron Accumulation 4
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Parkinsonism, Babinski sign, Spasti... OMIM:614298
Tay-Sachs Disease
Tremor, Incoordination, Clumsiness, Poor fine motor coordination, Ankle clonus, Exaggerated start... ORPHA:845
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Choreoathetosis, Tremor, Motor tics, Abnormality of extrapyramidal motor function... OMIM:234200
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Abnormal pyramidal sign, Lower limb hypertonia, Spastic gait, Babinski sign, Spastic dysa... ORPHA:447753
Serotonin Syndrome
Tremor, Hypertonia, Myoclonus, Clonus, Rigidity ORPHA:43116
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Glutaryl-Coa Dehydrogenase Deficiency
Tremor, Poor motor coordination, Chorea, Ataxia, Athetosis, Rigidity ORPHA:25
Alternating Hemiplegia Of Childhood
Tremor, Choreoathetosis, Episodic hemiplegia, Chorea, Paroxysmal dyskinesia, Abnormal pyramidal s... ORPHA:2131
Supranuclear Palsy, Progressive, 1
Tremor, Eyelid apraxia, Bradykinesia, Parkinsonism, Rigidity, Retrocollis OMIM:601104

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 Ccdc125

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 Ccdc125.

No publications found that use IMPC mice or data for Ccdc125.

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MGI Allele Allele Type Produced
Ccdc125tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ccdc125em1(IMPC)Hmgu Exon Deletion Mice

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