banner
Genes Phenotypes Help, News, Blog

Gene: Colq MGI:1338761

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
collagen like tail subunit of asymmetric acetylcholinesterase
Synonyms:
N/A

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 Colq 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 Colq by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Synaptic Congenital Myasthenic Syndromes
Facial palsy, Frequent falls ORPHA:98915
Myasthenic Syndrome, Congenital, 5
OMIM:603034

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Optic Atrophy 2
Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor OMIM:311050
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Spastic Paraparesis And Deafness
Short stature, Spastic paraparesis, Tremor OMIM:312910
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Spinocerebellar Ataxia 40
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... OMIM:616053
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidit... ORPHA:216873
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus OMIM:616921
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Abnormal motor nerve conduction velocity, Vocal cord paralysis, Tremor OMIM:158580
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia OMIM:615945
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, Myoclonus, Tremor OMIM:615127
Epilepsy, Familial Adult Myoclonic, 1
Enhancement of the C-reflex, Giant somatosensory evoked potentials, Tremor OMIM:601068
Dystonia 28, Childhood-Onset
Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Torticolli... OMIM:617284
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Hemiballismus, Tremor ORPHA:494526
Monomelic Amyotrophy
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction, Tremor, Fascicul... ORPHA:65684
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Tremor, Hypertonia, Ataxia, Short stature ORPHA:1368
Epilepsy, Familial Adult Myoclonic, 3
Enhancement of the C-reflex, Giant somatosensory evoked potentials, Myoclonus, Tremor OMIM:613608
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ... OMIM:619279
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower limb spasticity, Hy... ORPHA:251282
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Urocanase Deficiency
Gait ataxia, Action tremor, Dysmetria, Ataxia, Short stature, Truncal ataxia OMIM:276880
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:615924
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... ORPHA:314632
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Spinocerebellar Ataxia 7
Optic atrophy, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor functio... OMIM:164500
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Bradykinesia, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Scissor gait, Oroman... ORPHA:521406
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia OMIM:615768
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... ORPHA:240103
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Hsd10 Disease
Optic atrophy, Spastic paraparesis, Postnatal growth retardation, Myoclonus, Tremor, Rigidity, At... ORPHA:391417
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Bradyk... OMIM:213600
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T... ORPHA:99657
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Rigidity, Dystonia, Ataxia, Short stature, Bradykinesia OMIM:617836
Spinocerebellar Ataxia 50
Froment sign, Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia OMIM:620158
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis ORPHA:363710
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, B... ORPHA:397946
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Abnormal autono... ORPHA:329284
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Short stature, Dystonia,... OMIM:612438
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Growth delay, Tremor, Ataxia OMIM:278780
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Short stature OMIM:213200
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait OMIM:600363
Spinocerebellar Ataxia Type 14
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia ORPHA:98763
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia OMIM:128235
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Abnormal autonomic nervous system physio... OMIM:618049
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia... OMIM:619738
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Dystonia OMIM:618093
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Multiple System Atrophy
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi... ORPHA:102
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... ORPHA:420485
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Short stature, Truncal ataxia, Dysdiado... OMIM:610185
Spinocerebellar Ataxia 23
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign OMIM:610245
Parkinson Disease 17
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
4H Leukodystrophy
Optic atrophy, Upper motor neuron dysfunction, Dysmetria, Tremor, Abnormality of extrapyramidal m... ORPHA:289494
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, Postural tremor, Dysmetria, Tremor, Babinski sign, Delayed puberty, At... OMIM:607694
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... OMIM:606159
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia,... OMIM:617145
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi... ORPHA:98933
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia, Gro... ORPHA:70594
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Myoclonus, Tremor, Facial palsy, Frequent falls, Degeneration of anterior ... OMIM:159950
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rig... OMIM:600116
Spinocerebellar Ataxia, Autosomal Recessive 13
Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Short stature, Dysdiadochokinesis OMIM:614831
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Ataxia OMIM:617917
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Myoclonus, Gait ataxia, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressi... ORPHA:254881
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... OMIM:612736
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi... OMIM:615157
X-Linked Dystonia-Parkinsonism
Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Torsion... ORPHA:53351
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Tremor, Paraparesis, Ataxia ORPHA:99014
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia, ... ORPHA:1170
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Tremor, Hemiparesis, Parkinsonism, Dystonia ORPHA:306669
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Chor... OMIM:261640
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Parkinsonism, Head... OMIM:618877
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ... ORPHA:101
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal s... OMIM:614381
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Chorea, Spastic hemiparesis, Myoclonus, Gait ataxia... ORPHA:282166
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonis... OMIM:606693
Behr Syndrome
Optic atrophy, Dysmetria, Tremor, Babinski sign, Ataxia, Truncal ataxia, Progressive spasticity, ... OMIM:210000
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Parkinsonism, ... ORPHA:99750
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Tremor, Ataxia OMIM:616494
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Generalized dystonia, Tremor, Babinski sign, Hypertonia, Torticollis, Torsion dyst... OMIM:128100
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Optic atrophy, Generalized dystonia, Intention tremor, Tremor, Progressive sp... OMIM:312080
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d... OMIM:612953
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Giant somatosensory evoked potentials, Myoclonus, Tremor, Enhancement of the C-ref... OMIM:607876
Mohr-Tranebjaerg Syndrome
Optic atrophy, Generalized dystonia, Abnormality of somatosensory evoked potentials, Tremor, Ankl... ORPHA:52368
Hypermanganesemia With Dystonia 2
Spasticity, Generalized dystonia, Limb dystonia, Tremor, Ankle clonus, Dystonia, Opisthotonus, Pa... OMIM:617013
Parkinson-Dementia Syndrome
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity OMIM:260540
Brain Dopamine-Serotonin Vesicular Transport Disease
Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, Parkinsonism, Hy... ORPHA:352649
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Abnormal autonomic nervous sys... OMIM:300894
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Tetraplegia, Short... OMIM:616586
Ataxia With Vitamin E Deficiency
Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Hypertonia, Ataxia, Dystonia,... ORPHA:96
Spinocerebellar Ataxia Type 21
Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressive cerebell... ORPHA:98773
Spinocerebellar Ataxia 8
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia OMIM:608768
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Autonomic bladder dysfunction, Action tremor, Abnormal pyramidal sign, ... ORPHA:99027
Gerstmann-Straussler Disease
Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Apraxia, Truncal... OMIM:137440
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa... OMIM:613280
Parkinson Disease, Late-Onset
Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Abnormal autonomic nervous system p... OMIM:168600
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor func... OMIM:614298
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Hypertonia, Growth delay, Tremor OMIM:250800
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Progressive extrapyramidal muscular rigidity, Axial dystonia, Tremor, Dystonia, Pa... ORPHA:240071
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Titubation, Dysmetria, Ataxia OMIM:619405
Aceruloplasminemia
Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Tremor, Rigidity, Parkins... ORPHA:48818
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia, Optic disc pallor OMIM:618527
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor,... OMIM:606002
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Myoclonus, Tremor, Rigidi... ORPHA:199351
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Orthostatic hypotension, Abnormal autonomic nervou... OMIM:146500
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Frequent falls, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Grow... OMIM:612716
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Tremor, Rigidity OMIM:176500
Parkinson Disease 20, Early-Onset
Involuntary movements, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia, Eyelid apraxia OMIM:615530
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Optic atrophy, Spasticity, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism... OMIM:234200
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia ORPHA:1578
Synaptic Congenital Myasthenic Syndromes
Facial palsy, Frequent falls ORPHA:98915
Myasthenic Syndrome, Congenital, 5
OMIM:603034

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 Colq

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 Colq.

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

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
Colqtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Colqtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Colqtm271564(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Colqtm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Colqtm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter