banner
Genes Phenotypes Help, News, Blog

Gene: Nova1 MGI:104297

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:
NOVA alternative splicing regulator 1
Synonyms:
9430099M15Rik,  Nova-1

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 Nova1 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 Nova1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia OMIM:617018
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia ORPHA:217012
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... OMIM:614561
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... OMIM:616053
Spinocerebellar Ataxia Type 2
Postural tremor, Abnormal cortical gyration, Parkinsonism, Kinetic tremor, Chorea, Spinal cord po... ORPHA:98756
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... OMIM:128230
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Gait ataxia ORPHA:423296
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... ORPHA:251282
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Distal sensory impairment OMIM:615048
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Frequent falls, Hemiballismus ORPHA:494526
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired pain sensati... ORPHA:99947
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Migraine, Familial Hemiplegic, 1
Tremor, Hemiplegia, Ataxia, Hemiparesis OMIM:141500
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal at... ORPHA:363710
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ... ORPHA:314978
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp... ORPHA:171863
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... ORPHA:216873
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... ORPHA:98762
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... OMIM:600363
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Autosomal Dominant Spastic Paraplegia Type 8
Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp... ORPHA:100989
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity OMIM:615924
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Clonus, Impaired pain sensation, Abnormal spinal cord morphology, Babinski sign, Spastic parapleg... ORPHA:139578
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Spinocerebellar tract degeneration, Dystonia OMIM:617916
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Intrauterine growth retardation, Ataxia, Limb dystonia OMIM:620270
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Fasciculations ORPHA:65684
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb spasticity, Clonus, Babinski sign, Impaired proprioception, Impaired vibration sensati... ORPHA:100999
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Autosomal Dominant Spastic Paraplegia Type 37
Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp... ORPHA:171612
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:615362
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... ORPHA:314632
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... OMIM:617284
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:600116
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... ORPHA:521406
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Impaired distal vibration sensation, Tongue fasciculations, Fasciculations, Upper motor n... ORPHA:276435
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,... OMIM:617145
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... OMIM:616719
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
O'Sullivan-Mcleod Syndrome
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Tremor, Atrophy ... ORPHA:99965
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... ORPHA:397946
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Glutathionuria
Tremor, Gray matter heterotopia, Dysdiadochokinesis, Action tremor OMIM:231950
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia OMIM:618387
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Lim... OMIM:183090
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Limb ataxia, Dysmetria, Gait ataxia, Spasticity OMIM:213200
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... OMIM:618877
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Dystonia 12
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia OMIM:128235
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Dystonia OMIM:618049
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Impaired pain sensation ORPHA:101075
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Abnormality of the dorsal column of the spinal cord, Impaired distal propriocepti... ORPHA:137898
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Intention tremor OMIM:610185
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus OMIM:619028
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... OMIM:615157
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia ORPHA:139485
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Impaired pain sensation ORPHA:101078
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus, Myoclonic... ORPHA:79263
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait, Impaired vi... OMIM:616795
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb spasticity, Clonus, Babinski sign, Impaired proprioception, Impaired vibration sensati... ORPHA:100993
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Dysmetria, Gait ataxia OMIM:618090
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus OMIM:614018
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis OMIM:614831
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... OMIM:261640
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... ORPHA:254881
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, ... OMIM:208920
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Glut1 Deficiency Syndrome 2
Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612126
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... OMIM:619725
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Ataxia, Impaired pain sensation ORPHA:99014
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Hyperphenylalaninemia, Bh4-Deficient, B
Rigidity, Tremor, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia ORPHA:306669
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Sp... OMIM:618060
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Spinocerebellar Ataxia Type 21
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... ORPHA:98773
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Abnormal spinal cord morphology, Impaired vibration sensation in the ... ORPHA:88628
Behr Syndrome
Ataxia, Tremor, Babinski sign, Dysmetria, Progressive spasticity, Truncal ataxia, Frequent falls OMIM:210000
Secondary Syringomyelia
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Paraplegia, Sens... ORPHA:99857
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Babinski sign, Hand tremor, Dysmetria, Distal sensory impair... OMIM:302800
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia ORPHA:70594
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Spinocerebellar Ataxia Type 27
Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia ORPHA:98764
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Spasticity OMIM:607694
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Dysmetria, Distal sensory impairment, Gait ataxia, Hypertonia, Myo... OMIM:616505
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... OMIM:137440
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia ORPHA:3124
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Ataxia, Dysmetria, Titubation OMIM:619405
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthotonus, ... OMIM:617013
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... ORPHA:206443
Cln5 Disease
Abnormal central motor function, Ataxia, Tremor, Poor gross motor coordination, Dysmetria, Clumsi... ORPHA:228360
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired pain sensation, Tremor, Impaired temperature sensation, Impaired distal vibration sensat... OMIM:619574
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Impaired distal vibration sensation, Spastic paraplegia, Tetraplegia, Pseu... OMIM:616586
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... OMIM:614381
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babin... OMIM:614298
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Impaired proprioception, Abnormal ... OMIM:606002
Pelizaeus-Merzbacher Disease
Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm... OMIM:312080
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph... OMIM:128100
Superficial Siderosis
Ataxia, Impaired temperature sensation, Impaired pain sensation, Atrophy of the spinal cord, Abno... ORPHA:247245
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Ataxia, Spastic tetraparesis, Myelopathy, Abnormal spinal cord morphology,... ORPHA:139396
Autosomal Dominant Spastic Paraplegia Type 9A
Abnormality of the dorsal column of the spinal cord, Tremor, Babinski sign, Impaired vibration se... ORPHA:447753
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Intrauterine growth retardation, Dysmetria OMIM:615578
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Migraine, Familial Hemiplegic, 2
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... OMIM:613280
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Positive Romberg s... OMIM:105210
Spinal Arteriovenous Metameric Syndrome
Paraparesis, Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Tremor, Patent ductus arteriosus, Fasciculations, Intrauterine grow... OMIM:620327
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis OMIM:300894
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe... ORPHA:240071
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ... ORPHA:48818
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... OMIM:618056
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology ORPHA:494
Acute Disseminated Encephalomyelitis
Somatic sensory dysfunction, Ataxia, Involuntary movements, Abnormal spinal cord morphology, Diap... ORPHA:83597
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:168600
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Adrenomyeloneuropathy
Dysesthesia, Atrophy of the spinal cord, Abnormal spinal cord morphology, Babinski sign, Progress... ORPHA:139399
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:615530
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal pyramidal sign, C... OMIM:234200
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormal spinal cord morphology, Hemiparesis, Ataxia ORPHA:68
Mosaic Trisomy 20
Intrauterine growth retardation, Abnormal spinal cord morphology ORPHA:1724
Primary Sjögren Syndrome
Abnormal spinal cord morphology, Chorea, Somatic sensory dysfunction ORPHA:289390
Tetrasomy 9P
Abnormal spinal cord morphology, Lissencephaly, Intrauterine growth retardation, Pachygyria, Poly... ORPHA:3310
Limb Body Wall Complex
Abnormal spinal cord morphology, Spina bifida occulta, Spina bifida ORPHA:2369

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 Nova1

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 Nova1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
An alternative splicing program promotes adipose tissue thermogenesis. eLife (September 2016) Nova1tm1c(EUCOMM)Hmgu Nova1tm1a(EUCOMM)Hmgu PMC5026472

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
Nova1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nova1tm2a(EUCOMM)Hmgu 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