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Gene: Ect2 MGI:95281

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Gene Summary

Name:
ect2 oncogene
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased grip strength Ect2tm1b(EUCOMM)Wtsi HET   Early adult 8.63×10-06
preweaning lethality, complete penetrance Ect2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
tremors Ect2tm1b(EUCOMM)Wtsi HET Early adult 9.47×10-06
abnormal auditory brainstem response Ect2tm1b(EUCOMM)Wtsi HET   Early adult 5.11×10-05

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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

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X-ray

XRay Images Whole Body Dorso Ventral

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Human diseases caused by Ect2 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 Ect2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Optic atrophy, Babinski sign OMIM:311050
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, Tremor,... OMIM:601068
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Tremor, Hereditary Essential, 6
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor OMIM:618866
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Myoclonus, Jerk-locked premyoclonus spikes, Tremor, Enhancemen... OMIM:615127
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor OMIM:160120
Tremor, Hereditary Essential, 1
Hand tremor, Action tremor, Postural tremor OMIM:190300
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Jerk-locked premyoclonus spikes, Tremor, Enhancement of the C-reflex, EEG with photopa... OMIM:613608
Dystonia 27
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... OMIM:616411
Primary Dystonia, Dyt27 Type
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... ORPHA:464440
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Babinski sign, Lower limb spasticity ORPHA:401840
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor, Hearing impairment ORPHA:217012
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Tremor, Hereditary Essential, 4
Action tremor, Postural tremor OMIM:614782
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Torticollis, Myoclonus, Kinetic tremor, Involuntary movements OMIM:611092
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor, Hearing impairment OMIM:312910
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Abnormality of extrapyramidal motor function, Tremor, Optic disc pallor, Hearing i... OMIM:165300
Progressive Myoclonic Epilepsy Type 1
EEG with polyspike wave complexes, Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Inten... ORPHA:308
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... ORPHA:98807
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ataxia, Hemipl... OMIM:614561
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia OMIM:300911
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, EEG with generalized epileptiform discharges, Ataxia OMIM:616187
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Bilateral sensorineural hearing impairment, Progressive cereb... ORPHA:2589
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Dystonia, Involuntary movements OMIM:611031
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Tremor, Vocal cord paralysis OMIM:158580
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... OMIM:260300
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Spinocerebellar Ataxia 43
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor OMIM:617018
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... OMIM:605407
Parkinson Disease 22, Autosomal Dominant
Orthostatic hypotension, Bradykinesia, Tremor, Resting tremor OMIM:616710
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Hearing impairment OMIM:614369
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Spastic paraparesis, Dysmetria, Tremor, In... OMIM:616053
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia OMIM:618425
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Ataxia, Babinski sign OMIM:611105
Parkinsonism With Polyneuropathy
Resting tremor, Decreased motor nerve conduction velocity, Rigidity, Decreased amplitude of senso... OMIM:619279
Epilepsy, Familial Adult Myoclonic, 5
Myoclonus, Tremor, Interictal epileptiform activity OMIM:615400
Monomelic Amyotrophy
Tremor, Abnormality of peripheral nerve conduction, Fasciculations ORPHA:65684
Spinocerebellar Ataxia Type 20
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... ORPHA:101110
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Ataxia, Jerk-locked premyoclonus spikes, EEG with irregular generalized... OMIM:607876
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Hand tremor, EEG abnormality ORPHA:86814
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Myoclonus, Hand tremor, Prolonged somatosensory evoked poten... OMIM:608105
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements OMIM:616921
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia ORPHA:401901
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Sensorineural hearing impairment, Ataxia, Tremor, D... ORPHA:1368
Ravine Syndrome
Abnormal auditory evoked potentials, Spasticity, Ataxia ORPHA:99852
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor OMIM:612437
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:320401
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Focal dystonia, Tremor, Dystonia, Fasciculations ORPHA:309169
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Dystonia, Dopa-Responsive
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... OMIM:128230
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... OMIM:607671
Dystonia 23
Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Head tremor, Axial dystonia OMIM:614860
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Tremor, Dystonia, Frequent falls OMIM:619647
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Primary Dystonia, Dyt2 Type
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Involuntary movements, Gener... ORPHA:99657
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... OMIM:607317
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Hemiballismus, Frequent falls ORPHA:494526
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Tremor, Dystonia, Bradykinesia OMIM:600116
Dystonia 24
Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia OMIM:615034
Spinocerebellar Ataxia 38
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
Spinocerebellar Ataxia 50
Chorea, Froment sign, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor, He... OMIM:620158
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Spinocerebellar Ataxia Type 37
Sensorineural hearing impairment, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Tremor, Cogwheel... ORPHA:363710
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Spasticity, Abnormal pyramidal sign, Optic atrophy, Parkinsonism, Rigidity, Limb dystonia... ORPHA:216873
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Parkinson Disease 17
Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia OMIM:614203
Dystonia 16
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Bradykinesia ORPHA:210571
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Tremor, Myoclonus OMIM:159900
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor OMIM:616291
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... ORPHA:314978
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... ORPHA:79262
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Ankle clonus, Sensorineural hearing impairment, Pre... ORPHA:52368
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Limb dystonia, Torticollis, Myoclonus, Hand tremor, Upper limb postural tremor, Or... ORPHA:420485
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... ORPHA:98762
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, EEG with polyspike wave complexes, Truncal ataxia, Myoclonus, Tremor, EEG wi... OMIM:618587
Corticobasal Syndrome
Limb myoclonus, Speech apraxia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, Tremor, Inv... ORPHA:454887
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... ORPHA:314632
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor OMIM:615768
Migraine, Familial Hemiplegic, 1
Hemiparesis, Ataxia, Tremor, Hemiplegia OMIM:141500
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor OMIM:607458
Developmental And Epileptic Encephalopathy 97
Hypsarrhythmia, Tremor OMIM:619561
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... OMIM:606324
Developmental Delay And Seizures With Or Without Movement Abnormalities
EEG abnormality, Rigidity, Ataxia, Tremor, Dystonia, Bradykinesia OMIM:617836
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Oromandibular dyston... ORPHA:521406
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tetraparesis, Tremor, Dystonia OMIM:615924
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dystonia, Action tremor, Progress... OMIM:604326
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, EEG with spike-wave complexes (2.5-3.5 Hz), Ataxia OMIM:616366
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Abnormal nerve conduction velocity, Hearing impairment, Ataxia ORPHA:101075
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Torticollis, Myoclonus, Tremor, Craniofacial dystonia, Laryngeal dystoni... OMIM:617284
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Spasticity, Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing... OMIM:125250
Dystonia 7, Torsion
Blepharospasm, Writer's cramp, Clumsiness, Torticollis, Hand tremor, Torsion dystonia, Oromandibu... OMIM:602124
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Decreased nerve conduction velocity, Hearing impairment, Ataxia ORPHA:101078
Spinocerebellar Ataxia 7
Chorea, Spasticity, Optic atrophy, Abnormality of extrapyramidal motor function, Babinski sign, D... OMIM:164500
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Optic atrophy, Decreased motor nerve conduction velocity, Babinski sign, Decreased se... OMIM:609260
Parkinsonism-Dystonia 1, Infantile-Onset
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... OMIM:613135
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Tremor, Limb dysmetr... OMIM:213600
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Dystonia, Bradykinesia OMIM:605909
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... OMIM:617519
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Ataxia... OMIM:617145
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Spastic paraplegia, Tremor, Lower limb spasticity, Clonus OMIM:600363
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Sensorineural hearing impairment ORPHA:66633
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Spastic gait, Spastic dysarthria, Limb ataxia, Babinski sign, Spastic paraplegia,... ORPHA:251282
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity, Upper motor neuron dysfunction, Tremor, Tongue fascic... ORPHA:276435
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Ataxia, Tremor, EEG abnormality OMIM:617831
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Blepharospasm, Torsion dystonia, Tremor OMIM:224500
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apraxia, Parkinsonism with favor... ORPHA:240103
Spinocerebellar Ataxia Type 14
Gait ataxia, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive cerebellar ataxia ORPHA:98763
Late-Infantile/Juvenile Krabbe Disease
Spastic diplegia, EEG with persistent abnormal rhythmic activity, Clumsiness, Upper motor neuron ... ORPHA:206443
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dystonia OMIM:261630
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Parkinsonism, Rigidity, Abnormal autonomic nervous system physiology, Spastic para... ORPHA:329284
Dystonia 12
Parkinsonism, Torticollis, Tremor, Dystonia, Bradykinesia OMIM:128235
Glut1 Deficiency Syndrome 2
EEG abnormality, Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612126
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Tremor, Dystonia OMIM:619651
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormal autonomic nervous system physiology, Upper motor ne... ORPHA:99027
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Paraparesis, Ataxia, Tremor, Hearing impairment ORPHA:99014
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Tremor, EEG with spike-wave complexes, Ataxia OMIM:614018
Leukodystrophy, Hypomyelinating, 13
Spasticity, Exaggerated startle response, Optic atrophy, Ataxia, Hypertonia, Clonus, Lower limb s... OMIM:616881
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Myoclonus, Tremor, Progressive cerebellar ataxia, Dystonia, Hearing impa... ORPHA:139485
Parkinsonism-Dystonia 2, Infantile-Onset
Dysdiadochokinesis, Parkinsonism, Abnormal autonomic nervous system physiology, Oculogyric crisis... OMIM:618049
Infantile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Chorea, Spasticity, EEG with generalized slow activity grade 4, Myo... ORPHA:79263
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, Babinski sign, Tremor OMIM:615362
Spinocerebellar Ataxia 23
Gait ataxia, Limb ataxia, Babinski sign, Dysmetria, Tremor OMIM:610245
Multiple System Atrophy
Orthostatic hypotension due to autonomic dysfunction, Gait ataxia, Abnormal pyramidal sign, Postu... ORPHA:102
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Dystonia OMIM:618093
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Choreoathetosis, Paroxysmal dyskinesia, Invol... OMIM:606703
Familial Dyskinesia And Facial Myokymia
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Dystonia ORPHA:324588
Autosomal Spastic Paraplegia Type 58
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Titu... ORPHA:397946
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Tremor, Ataxia OMIM:617917
Neurodegeneration With Brain Iron Accumulation 3
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... OMIM:606159
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Ankle clonus, Resting tremor, Babinski sign, Spastic paraparesis, Scissor gait, Cogwh... ORPHA:363654
X-Linked Dystonia-Parkinsonism
Chorea, Blepharospasm, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism with favorable resp... ORPHA:53351
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Glycosylphosphatidylinositol Biosynthesis Defect 15
Gait ataxia, Spasticity, Optic atrophy, EEG abnormality, Apraxia, Dysmetria, Tremor OMIM:617810
Pelizaeus-Merzbacher Disease, Classic Form
Spasticity, Abnormal pyramidal sign, Abnormality of somatosensory evoked potentials, Titubation, ... ORPHA:280219
Developmental And Epileptic Encephalopathy 42
EEG abnormality, Ataxia, Tremor, Hypertonia, Athetosis OMIM:617106
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Abnormality of somatosensory evoked potentials, Decreased motor nerve con... ORPHA:206594
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Ataxia, Dysmetria, Tremor, Lower limb spasticity OMIM:619028
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612716
Parkinson Disease 21
Rigidity, Tremor, Bradykinesia, Parkinsonism OMIM:616361
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Tongue fasciculations, Abnormal cranial nerve morpholo... OMIM:601596
Adult Krabbe Disease
Hoffmann sign, Progressive spastic paraparesis, Spasticity, EEG abnormality, Clumsiness, Upper mo... ORPHA:206448
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Gait ataxia, Gait apraxia, Dysdiadochokinesis, Resting tremor, Apraxia, Paraparesis, Limb ataxia,... OMIM:615157
Spinocerebellar Ataxia 15
Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Hsd10 Disease
Optic atrophy, Rigidity, Myoclonus, Choreoathetosis, Ataxia, Spastic paraparesis, Tremor, Hearing... ORPHA:391417
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Absent brainstem aud... ORPHA:1215
Multiple System Atrophy, Parkinsonian Type
Orthostatic hypotension due to autonomic dysfunction, Gait ataxia, Abnormal pyramidal sign, Postu... ORPHA:98933
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Abnormal peripheral action potential amplitude, Tremor, Abnormality of the s... ORPHA:90117
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Rigidity, Ataxia, Decreased sensory nerve conduction v... OMIM:603472
Parkinson-Dementia Syndrome
Rigidity, Tremor, Abnormal pyramidal sign, Parkinsonism OMIM:260540
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Tremor OMIM:607734
Leukodystrophy, Hypomyelinating, 6
Spasticity, Optic atrophy, Rigidity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612438
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Sensorineural hearing impairment, Eyelid myoclonus, Clumsiness, Myoclonus, Tremor... ORPHA:2590
Spinocerebellar Ataxia, Autosomal Recessive 2
Gait ataxia, Spasticity, Limb ataxia, Incoordination, Ataxia, Dysmetria, Tremor OMIM:213200
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:614251
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Hemiparesis, Tremor, Dystonia, Bradykinesia ORPHA:306669
Crigler-Najjar Syndrome Type 1
Tremor, Hearing impairment ORPHA:79234
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal auditory evok... OMIM:600501
Leukodystrophy, Hypomyelinating, 11
Ataxia, Spasticity, Tremor, Myoclonus OMIM:616494
Cystathioninuria
External ear malformation, Tremor ORPHA:212
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Parkinsonism, Ataxia, Tremor, Action tremor, Hypertonia, Hyperkinetic movements, Dystonia OMIM:619738
Neurodegeneration With Brain Iron Accumulation 7
Ataxia, Dysmetria, Tremor, Lower limb spasticity, Dystonia OMIM:617916
Cerebral Creatine Deficiency Syndrome 2
Rigidity, Paraparesis, Myoclonus, Ataxia, Tremor, Progressive extrapyramidal movement disorder, H... OMIM:612736
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gait ataxia, Spasticity, Hemiballismus, Parkinsonism, Truncal ataxia, Rigidity, Myoclonus, Choreo... OMIM:618877
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunction, Action tremor, Spasticit... ORPHA:99
Cln5 Disease
Spasticity, Dysdiadochokinesis, Truncal ataxia, EEG with focal spikes, Multifocal epileptiform di... ORPHA:228360
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Sensorineural hearing impairment, Decreased motor nerve conduction velocity, Paraparesis, Hand tr... OMIM:302800
Hyperphenylalaninemia, Bh4-Deficient, A
Limb hypertonia, Parkinsonism, Rigidity, Choreoathetosis, Ataxia, Tremor, Hypertonia, Dystonia, B... OMIM:261640
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Myoclonus, Tremor, Frequent falls, Tongue fasciculations, Facial palsy OMIM:159950
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Tremor, Dystonia, Brad... ORPHA:240085
Dentatorubral Pallidoluysian Atrophy
Gait ataxia, Blepharospasm, Dysdiadochokinesis, Involuntary movements, Truncal ataxia, Myoclonus,... ORPHA:101
Inherited Creutzfeldt-Jakob Disease
Gait ataxia, Chorea, Abnormal pyramidal sign, Vestibular nystagmus, EEG with persistent abnormal ... ORPHA:282166
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macrotia, Spastic tetraplegia, Spastic gait, Resting tremor, Parkinsonism, Apraxia, Choreoathetos... OMIM:300055
Kufor-Rakeb Syndrome
Spasticity, Parkinsonism, Rigidity, Torticollis, Paraparesis, Parkinsonism with favorable respons... OMIM:606693
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Writer's cramp, Torticollis, Babinski sign, Torsion dystonia, Tremor, Hypertonia, ... OMIM:128100
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Dystonia OMIM:233910
Parkinson Disease 14, Autosomal Recessive
Spasticity, Ankle clonus, Resting tremor, Parkinsonism, Eyelid myoclonus, Eyelid apraxia, Upper l... OMIM:612953
Mohr-Tranebjaerg Syndrome
Spasticity, Postlingual sensorineural hearing impairment, Progressive sensorineural hearing impai... OMIM:304700
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Limb hypertonia, Rigidity, Oculogyric crisis, Tremor, Dystonia, Bradykinesia ORPHA:70594
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Abnormal pyramidal sign, Tremor by anatomical site, Parkinsonism, Rigidity, Oculom... ORPHA:99750
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Hemiparesis, Ataxia, Tremor, Intention tremor OMIM:614307
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Spastic tetraplegia, Absent brainstem auditory responses, Head titubation, Vestibular areflexia, ... ORPHA:3240
Atypical Rett Syndrome
Gait ataxia, Spasticity, Limb myoclonus, EEG abnormality, Apraxia, Tremor, Hand apraxia, Involunt... ORPHA:3095
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor, Frequent falls OMIM:617523
Glutathionuria
Tremor, Action tremor, Dysdiadochokinesis OMIM:231950
Spinocerebellar Ataxia Type 21
Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebell... ORPHA:98773
4H Leukodystrophy
Dysdiadochokinesis, Optic atrophy, Progressive gait ataxia, Abnormality of extrapyramidal motor f... ORPHA:289494
Behr Syndrome
Optic atrophy, Progressive spasticity, Truncal ataxia, Ataxia, Babinski sign, Dysmetria, Tremor, ... OMIM:210000
Spinocerebellar Ataxia, Autosomal Recessive 21
Gait ataxia, Spasticity, Limb ataxia, Tremor, Frequent falls OMIM:616719
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Spastic ataxia, Spastic gait, Ataxia, Babinski sign, Tremor OMIM:616795
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Postural tremor, Optic atrophy, Ataxia, Babinski sign, Dysmetria, Tremor, Dystonia OMIM:607694
Developmental And Epileptic Encephalopathy 4
Spastic tetraplegia, EEG with burst suppression, Hypsarrhythmia, Choreoathetosis, Spastic paraple... OMIM:612164
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Gait ataxia, Spasticity, Optic atrophy, EEG abnormality, Oculomotor apraxia, Dysmetria, Tremor ORPHA:529665
Spinocerebellar Ataxia 8
Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Progressive cerebellar ataxia OMIM:608768
Charcot-Marie-Tooth Disease Type 1F
Gait ataxia, Sensorineural hearing impairment, Absent brainstem auditory responses, Limb ataxia, ... ORPHA:101085
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Optic atrophy, Limb hypertonia, Rigidity, Hypsarrhythmia, Myoclonus, Ataxia, EEG with... ORPHA:442835
Hypermanganesemia With Dystonia 2
Spasticity, Ankle clonus, Parkinsonism, Limb dystonia, Clumsiness, Babinski sign, Scissor gait, T... OMIM:617013
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Ataxia, Tetraparesis, Opti... OMIM:619260
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Gait ataxia, Spasticity, Oculomotor apraxia, Poor motor coordination, Ataxia, Dysmetria, Tremor ORPHA:1170
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Parkinsonism, Limb dystonia, Oculogyric crisis, Ataxia, Spastic tetraparesis,... ORPHA:352649
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Abnormal pyramidal sign, Resting tremor, Parkinsonism, Rigidity, Abnormal autonomic n... OMIM:616840
Spinocerebellar Ataxia, Autosomal Recessive 30
Titubation, Dysmetria, Tremor, Ataxia OMIM:619405
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Poor fine motor coordination, Spastic ataxia, Optic atrophy, Progressive spasticity, Truncal atax... ORPHA:137898
Caribbean Parkinsonism
Parkinsonism, Rigidity, Abnormal autonomic nervous system physiology, Myoclonus, Apraxia, Progres... ORPHA:97355
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Parkinsonism, Tremor, Lower limb spasticity, Focal EEG discharges with secondary ... ORPHA:3077
Peroxisome Biogenesis Disorder 5B
Sensorineural hearing impairment, Oculomotor apraxia, Ataxia, Dysmetria, Tremor OMIM:614867
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Ataxia, Dysmetria, Tremor, H... ORPHA:96
Leukoencephalopathy With Ataxia
Gait ataxia, Limb ataxia, Action tremor, Optic neuropathy OMIM:615651
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Cerebral palsy, Hypertonia ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Cerebral palsy, Hypertonia ORPHA:529799
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Rigidity, Abnormal autonomic nervous system physiology, Spastic paraparesis, Tremor... OMIM:300894
Infantile Krabbe Disease
Spasticity, Ankle clonus, Opisthotonus, Optic atrophy, Spastic diplegia, Myoclonus, Decreased ner... ORPHA:206436
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Rigidity, Abnormal autonomic nervous system physiology, Tremor, Dys... OMIM:168600
Hypermanganesemia With Dystonia 1
Poor fine motor coordination, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor functio... OMIM:613280
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Optic atrophy, Writer's cramp, Choreoathetosis, Ataxia, Spastic parapleg... OMIM:312080
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Gerstmann-Straussler Disease
Gait ataxia, Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, Myoclonus, Limb ataxia,... OMIM:137440
Spinocerebellar Ataxia Type 27
Gait ataxia, Truncal ataxia, Hand tremor, Limb ataxia, Tremor ORPHA:98764
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Perry Syndrome
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism ORPHA:178509
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Chorea, Truncal ataxia, Oculomotor apraxia, Limb ataxia, Ataxia, Tremor, Dystonia OMIM:208920
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Gait ataxia, Spasticity, Abnormal pyramidal sign, Optic atrophy, Dysdiadochokinesis, Ataxia, Dysm... OMIM:614381
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Rigidity, Spasticity, Tremor, Hypertonia OMIM:176500
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Spasticity, Hemiparesis, Abnormal autonomic... OMIM:105210
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Incoordination, Ataxia, Tremor OMIM:618060
Classic Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Blepharospasm, Parkinsonism, Parkinsonism with favorable response to dop... ORPHA:240071
Cerebrotendinous Xanthomatosis
Spasticity, Abnormal pyramidal sign, Abnormality of somatosensory evoked potentials, Optic atroph... ORPHA:909
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Sensorineural hearing impairment, Spastic tetraplegia, Abnormal autonomic nervous sys... OMIM:609136
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Decreased nerve conduction velocity, Vocal cord paralysis, Bilateral sensorineural hearin... ORPHA:397744
Tetanus
Rigidity, Abnormal autonomic nervous system physiology, Tremor, Autonomic bladder dysfunction, Hy... ORPHA:3299
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spasticity, Sensorineural hearing impairment, Ataxia, Babinski sign, Spastic paraplegia, Dysmetri... OMIM:618527
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Gait ataxia, Chorea, Abnormal pyramidal sign, Decreased motor nerve conduction velocity, Oculomot... OMIM:606002
Migraine, Familial Hemiplegic, 2
Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Dysmetria, Tremor OMIM:602481
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Abnormal pyramidal sign, Optic atrophy, Parkinsonism, Abnormality of extrapyramidal m... OMIM:614298
Adult-Onset Dystonia-Parkinsonism
Spasticity, Rigidity, Eyelid apraxia, Clumsiness, Parkinsonism with favorable response to dopamin... ORPHA:199351
Spastic Paraplegia 9B, Autosomal Recessive
Spasticity, Pseudobulbar paralysis, Babinski sign, Spastic paraplegia, Tremor, Tetraplegia OMIM:616586
Cockayne Syndrome Type 1
Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory re... ORPHA:90321
Parkinson Disease 20, Early-Onset
Parkinsonism, Rigidity, Eyelid apraxia, Tremor, Involuntary movements, Dystonia, Bradykinesia OMIM:615530
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Rigidity, Oculomotor apraxia, Spastic dysarthria, Tremor, Bradykinesia ORPHA:240094
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Aceruloplasminemia
Gait ataxia, Chorea, Blepharospasm, Parkinsonism, Rigidity, Torticollis, Limb ataxia, Ataxia, Tre... ORPHA:48818
Multiple System Atrophy 1, Susceptibility To
Parkinsonism, Rigidity, Abnormal autonomic nervous system physiology, Ataxia, Babinski sign, Trem... OMIM:146500
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Mogs-Cdg
Absent brainstem auditory responses, Dystonia, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Trisomy 10P
Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... ORPHA:171929
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Parkinsonism, Oculogyric crisis, Tremor, Hypertonia ORPHA:1578
Cockayne Syndrome B
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Ataxia, Dec... OMIM:133540
Cockayne Syndrome A
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Ataxia, Dec... OMIM:216400
Neurodegeneration With Brain Iron Accumulation 1
Spasticity, Blepharospasm, Abnormal pyramidal sign, Optic atrophy, Parkinsonism, Rigidity, Eyelid... OMIM:234200
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears, Limb hypertonia ORPHA:401973

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 Ect2

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 Ect2.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Alveolar epithelial cell fate is maintained in a spatially restricted manner to promote lung regeneration after acute injury. Cell reports (May 2021) Ect2tm1c(EUCOMM)Wtsi PMC8220578
Direct Comparison of Mononucleated and Binucleated Cardiomyocytes Reveals Molecular Mechanisms Underlying Distinct Proliferative Competencies. Cell reports (March 2020) Ect2tm1a(EUCOMM)Wtsi PMC7194103

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MGI Allele Allele Type Produced
Ect2tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Ect2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ect2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ect2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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