banner
Genes Phenotypes Help, News, Blog

Gene: Ntan1 MGI:108471

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:
N-terminal Asn amidase
Synonyms:
asparagine-specific N-terminal amidase

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 Ntan1 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 Ntan1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia OMIM:605909
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Restless legs, Rigidity, Depression, Bradykinesia, Dementia, Parkinsonism with fa... OMIM:616710
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors, Impaired social interactions OMIM:618830
Huntington Disease-Like 2
Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Dementia, Memory ... OMIM:606438
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Memory impairment, Bradykinesia ORPHA:306686
Dystonia 16
Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal sign, Dysphagia, Bradyki... OMIM:612067
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Myoclonus, Cognitive ... ORPHA:314632
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... OMIM:213600
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... ORPHA:98762
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Rigidity, Tremor, Neuromuscular dysphagia, Depression, Bradykinesia, Mental deterioration, Memory... ORPHA:240085
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, Bradykinesia, D... OMIM:618317
Huntington Disease
Rigidity, Chorea, Gait ataxia, Depression, Bradykinesia, Dementia OMIM:143100
Progressive Supranuclear Palsy-Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Limb apraxia, Involuntary movements, Tremor, Rigidi... ORPHA:240103
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Parkinsonism, Rigidity, Dysphagia, Depression, Frontal lobe dementia, Bradykinesia, Apraxia, Ment... OMIM:221820
Spinocerebellar Ataxia 17
Ataxia, Confusion, Parkinsonism, Aggressive behavior, Rigidity, Chorea, Dysmetria, Depression, Fr... OMIM:607136
Spastic Paraplegia 78, Autosomal Recessive
Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski sign, Abnormal pyramidal sign... OMIM:617225
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity, Attention deficit hyperactivity disorder OMIM:618878
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Depression, Bradykinesia, Compulsive behaviors, Spastic paraparesi... OMIM:615643
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short attention span, Parkinsonism, Frontotemporal dementia, Bradykinesia, Inappropriate behavior... ORPHA:412066
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Upper limb s... OMIM:618418
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Shyness OMIM:618221
Manganese Poisoning
Postural tremor, Confusion, Aggressive behavior, Hypersexuality, Emotional lability, Depression, ... ORPHA:306682
Juvenile Huntington Disease
Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Depression, Irritability, Bradykinesia, Dem... ORPHA:248111
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Cognitive imp... OMIM:615528
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertonia, Mental deterioration OMIM:618824
Huntington Disease
Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Depression, Clumsiness, Addictiv... ORPHA:399
Dystonia 12
Torticollis, Parkinsonism, Tremor, Depression, Bradykinesia, Dysphagia, Emotional lability OMIM:128235
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Co... OMIM:615157
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis ORPHA:329284
Leber Optic Atrophy And Dystonia
Bradykinesia, Athetosis, Dementia, Dysphagia, Spasticity, Upper motor neuron dysfunction OMIM:500001
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Co... ORPHA:401901
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Depression, Gait ataxia, Bradykinesia, Dysphagia, Emot... ORPHA:71517
Corticobasal Syndrome
Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apraxia, Limb... ORPHA:454887
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Intellectual Developmental Disorder, Autosomal Recessive 64
Aggressive behavior, Slurred speech, Hypertonia, Impaired social interactions, Spasticity OMIM:618103
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Ir... OMIM:261640
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dementia, Choreoatheto... OMIM:606159
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Emotional lability, Depression,... OMIM:137440
Spinocerebellar Ataxia 10
Incoordination, Babinski sign, Abnormal pyramidal sign, Dysphagia, Dysmetria, Gait ataxia, Depres... OMIM:603516
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Parkinsonism, Bradykinesia, Hypertonia, Attention deficit hyperactivity disorder, Limb hypertonia OMIM:617384
Inherited Creutzfeldt-Jakob Disease
Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr... ORPHA:282166
Parkinsonism With Polyneuropathy
Resting tremor, Rigidity, Depression, Bradykinesia, Parkinsonism with favorable response to dopam... OMIM:619279
Huntington Disease-Like 1
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Depressio... ORPHA:157941
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Depression, Gait ataxia,... OMIM:300623
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Dysphagia ORPHA:210571
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Cogwheel rigidity, Depression, Bradykinesia, Optic neuritis, Cognitive impairment, Dyspha... ORPHA:254886
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradyphrenia, Short attention span, Lower limb spasticity, Ataxia, Impulsivity, Paraparesis, Orom... OMIM:617854
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Severe temper tantrums, Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait OMIM:619052
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Babinski sign, Parkinsonism with fa... OMIM:128230
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Irrita... ORPHA:101150
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Paraparesis, Babinski s... OMIM:606693
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis,... OMIM:300894
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment,... ORPHA:36387
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Perry Syndrome
Parkinsonism, Tremor, Frontotemporal dementia, Rigidity, Depression, Bradykinesia, Inappropriate ... OMIM:168605
Young-Onset Parkinson Disease
Short attention span, Restless legs, Impulsivity, Tremor, Rigidity, Depression, Frontal lobe deme... ORPHA:2828
Cln3 Disease
Extrapyramidal muscular rigidity, Acne, Ataxia, Aggressive behavior, Depression, Bradykinesia, De... ORPHA:228346
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia, Dysphagia ORPHA:228169
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Clumsiness, Irritabili... ORPHA:66624
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Spinocerebellar Ataxia Type 20
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Infantile Dystonia-Parkinsonism
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Irritability, Hypert... ORPHA:238455
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia ORPHA:306669
Mitochondrial Membrane Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Babinski sign, Hand tremor, Dysphagia, Bradykinesia, Spastic paraparesis,... ORPHA:289560
Spinocerebellar Ataxia 2
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetria, Limb ataxia, Bradykine... OMIM:183090
Dravet Syndrome
Short attention span, Incoordination, Parkinsonism, Impulsivity, Rigidity, Cogwheel rigidity, Bra... ORPHA:33069
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:613643
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Tremor, Rigidity, Bradykinesia, Cognitive impairment, Limb hypertonia ORPHA:70594
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Parkinsonism, Dementia, Hypertonia, Semantic dementia, Myoclonus, Apraxia, Ocu... ORPHA:1020
Spinocerebellar Ataxia Type 1
Postural tremor, Chorea, Slurred speech, Dysmetria, Bradykinesia, Progressive cerebellar ataxia, ... ORPHA:98755
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Ataxia, Clonus, Rigidity, Chorea, Dysphagia, Opisthotonus, Choreoathetosis, Depress... ORPHA:13
Progressive Supranuclear Palsy
Impulsivity, Tremor, Rigidity, Depression, Blepharospasm, Bradykinesia, Dementia, Cognitive impai... ORPHA:683
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... OMIM:613135
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dementia, Parkinsonism with favorable respo... OMIM:607060
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Dementia, Parkinsonism w... OMIM:311510
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Delirium ORPHA:208441
Lopes-Maciel-Rodan Syndrome
Tremor, Abnormal pyramidal sign, Dysphagia, Bradykinesia, Ankle clonus, Hypertonia, Agitation, Br... OMIM:617435
Classic Progressive Supranuclear Palsy Syndrome
Progressive extrapyramidal muscular rigidity, Parkinsonism, Impulsivity, Tremor, Abnormal pyramid... ORPHA:240071
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Autosomal Dominant Spastic Paraplegia Type 3
Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle clonus, Lower limb hypertonia... ORPHA:100984
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Bradykinesia, Apraxia, Spasticity, Action ... OMIM:300423
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:600116
Machado-Joseph Disease
Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Limb ataxia, Dyspha... OMIM:109150
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Dysphagia, Limb myoclonus OMIM:619862
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Dysdiadochokinesis, Slurred speech, Bradykinesia OMIM:609161
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Spasticity ORPHA:521406
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Chorea, Ataxia OMIM:618683
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... OMIM:610217
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Dysphagia OMIM:168600
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Dementia, Myoclonus... ORPHA:171695
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Myoclonus, Dysphagia,... OMIM:168601
Hsd10 Disease
Short attention span, Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Myoclonus, Spastic pa... ORPHA:391417
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Resting tremor, Bradykinesia, Parkinsonism ORPHA:306692
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggressive behavior, Tr... OMIM:612953
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Spasticity, Progressive neurologic deterioration OMIM:607624
Neuroferritinopathy
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Subcortical dementia,... ORPHA:157846
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Restlessness, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Sp... OMIM:300055
Primary Progressive Freezing Gait
Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Dementia, Dysphagi... ORPHA:75567
Hypermanganesemia With Dystonia 2
Parkinsonism, Progressive neurologic deterioration, Tremor, Babinski sign, Scissor gait, Opisthot... OMIM:617013
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Impulsivity, Rigidity, Depression, Bradykinesia, Dementia, Agitatio... ORPHA:411602
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Impaired social interactions, ... OMIM:608636
Sporadic Infantile Bilateral Striatal Necrosis
Short attention span, Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxi... ORPHA:225147
Hereditary Geniospasm
Abnormal social behavior, Chin myoclonus, Intention tremor ORPHA:53372
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Spastic dysarthria, Blepharospasm, Bradykinesia, Demen... ORPHA:240094
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Adult-Onset Nemaline Myopathy
Bradykinesia, Neuromuscular dysphagia, Paraproteinemia, Poor fine motor coordination ORPHA:171442
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Multiple System Atrophy, Cerebellar Type
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Neuromuscular d... ORPHA:227510
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, De... ORPHA:98933
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Bradykinesia, Ataxia, Rigidity OMIM:617836
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Impaired oropharyngeal swallow ... ORPHA:53351
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Incoordination, Ataxia, Dysmetria, Gait ataxia, Hemiparesis, Bradykinesia, Dysphagia, Truncal ata... OMIM:601338
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus, Impaired social i... OMIM:611092
Caribbean Parkinsonism
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Frontal lobe dementia, Br... ORPHA:97355
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable response t... ORPHA:199351
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Rigidity, Dysmetria, Gait ataxia, Depression, Bradykinesia, Dementia, Compu... ORPHA:93256
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Depress... ORPHA:98808
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Hyperactivity, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal py... OMIM:234200
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dysphagia, M... OMIM:615530
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... ORPHA:309246
Postencephalitic Parkinsonism
Resting tremor, Involuntary movements, Rigidity, Babinski sign, Abnormal pyramidal sign, Cogwheel... ORPHA:97349
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Depression, Bradykinesia, Dyspha... OMIM:258450
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Blepharospasm, Bradykinesia, Parkinsonism with favorab... OMIM:606324
11Q22.2Q22.3 Microdeletion Syndrome
Compulsive behaviors, Short attention span, Abnormal social behavior, Attention deficit hyperacti... ORPHA:444002
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Babinski sign OMIM:619063
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Spinocerebellar Ataxia Type 29
Ataxia, Delayed early-childhood social milestone development, Dysmetria, Gait ataxia, Dysdiadocho... ORPHA:208513
Spinocerebellar Ataxia Type 8
Ataxia, Rigidity, Limb ataxia, Gait ataxia, Spastic dysarthria, Depression, Bradykinesia, Dysphag... ORPHA:98760
Multiple System Atrophy
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... ORPHA:102
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... ORPHA:391411
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykinesia, Hype... OMIM:618877
Kufor-Rakeb Syndrome
Eyelid apraxia, Short attention span, Confusion, Parkinsonism, Rigidity, Babinski sign, Abnormal ... ORPHA:306674
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia OMIM:619911
Metachromatic Leukodystrophy, Adult Form
Short attention span, Chorea, Babinski sign, Progressive psychomotor deterioration, Spasticity, D... ORPHA:309271
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Hyperactivity, Parkinsonism, Anorexia, Aggressive behavior... ORPHA:3077
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Babinski sign, Progressive psychomotor deterioration, Spasticity, Clumsines... ORPHA:309263
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic m... OMIM:619738
Childhood-Onset Nemaline Myopathy
Bradykinesia, Neuromuscular dysphagia, Poor fine motor coordination, Clumsiness ORPHA:171439
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Postural tremor, Parkinsonism, Rigidity, Bradykinesia, Irritability, Retrocollis,... OMIM:609454
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Cognitive impairment OMIM:146500
Choreoacanthocytosis
Chorea, Hypertonia, Compulsive behaviors, Self-mutilation of tongue and lips due to involuntary m... ORPHA:2388
Foxg1 Syndrome
Bruxism, Choreoathetosis, Hyperkinetic movements, Myoclonus, Cognitive impairment, Impaired socia... ORPHA:561854
Hypermanganesemia With Dystonia 1
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality of extrap... OMIM:613280
Spinocerebellar Ataxia Type 13
Torticollis, Limb ataxia, Titubation, Clumsiness, Gait ataxia, Bradykinesia, Myoclonus, Dysphagia ORPHA:98768
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Parkinsonism, Rigidity, Slurred speech, Hand tremor, Gait ataxia, Depression, Bra... OMIM:157640
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Irritability, Retrocollis, Dysphagi... OMIM:601104
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... ORPHA:466722
Immunodeficiency, Common Variable, 2
Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusiti... OMIM:240500
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal eating behavior, Compulsive behaviors, ... ORPHA:101039
Immunodeficiency, Common Variable, 1
Pneumonia, Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Decreased circulating t... OMIM:607594
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Ataxia, Tremor, Rigidity, Gait ataxia, Depression, Cogwheel rigidity, Bradykinesi... ORPHA:254892
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Shyness, Aggressive behavior, Depression, Irritability, Self... ORPHA:449291
Childhood Absence Epilepsy
Depression, Punding, Attention deficit hyperactivity disorder, Limb myoclonus, Abnormal social be... ORPHA:64280
Rett Syndrome
Limb apraxia, Bradykinesia, Agitation, Cholecystitis, Abnormal repetitive mannerisms, Stereotypic... ORPHA:778
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Bronchiectasis, Recurrent sinusitis, Recur... OMIM:300853
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Dysgammaglobulinemia, Impaired Ig class switch recombination, In... OMIM:308230
Metachromatic Leukodystrophy, Late Infantile Form
Babinski sign, Spasticity, Gait ataxia, Clumsiness, Progressive gait ataxia, Cholecystitis, Decer... ORPHA:309256
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, Increased circulating IgE l... ORPHA:277
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi... OMIM:617241
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... ORPHA:530983
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a... ORPHA:646
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium ORPHA:100924
48,Xxxy Syndrome
Tremor, Irritability, Attention deficit hyperactivity disorder, Chronic otitis media, Abnormal so... ORPHA:96263
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Lack of T cell funct... ORPHA:572
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Ataxia, Impaired T cell function, Tremor, Irritability, Emotional lability, Lethargy OMIM:201100
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hyperto... ORPHA:309854
Combined Oxidative Phosphorylation Deficiency 12
Bradykinesia, Babinski sign, Spastic tetraparesis OMIM:614924
Immunodeficiency 58
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren... OMIM:618131
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Ataxia, Pneumonia, Impaired T cell function, Tremor, Spastic diplegia, Tetraparesis, O... OMIM:613179
Roifman Syndrome
Eczema, Recurrent pneumonia, Decreased circulating antibody level, Recurrent otitis media, Decrea... ORPHA:353298
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Aggressive behavior, Abnormal pyramidal sign, Dysmetria, Nonprogressive cerebellar ataxia... ORPHA:314647
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Chronic mucocutaneous candidiasis, Agammaglobulinemia, Panhypogamma... OMIM:209920
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:603909
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Skin rash, Partial IgA deficiency, Pustule, Acute otitis media, Recurrent pneumonia, Lack of T ce... ORPHA:35078
Obesity Due To Leptin Receptor Gene Deficiency
Emotional lability, Decreased T cell activation, Polyphagia ORPHA:179494
Fg Syndrome Type 1
Compulsive behaviors, Abnormal social behavior, Attention deficit hyperactivity disorder ORPHA:93932
Prader-Willi Syndrome Due To Translocation
Head-banging, Compulsive behaviors, Attention deficit hyperactivity disorder, Impaired social int... ORPHA:177907
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Impai... OMIM:614576
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Bronchiectasis, Pyoderma, Reduced delayed hypersensitivity, Eczematoid derma... OMIM:242700
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Decreased lymphocyte prolifer... ORPHA:83471
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Minimal change glomerulonephritis, Abnormal lymphocyte physiology, Hemi... ORPHA:1830
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Cu... OMIM:600802
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... OMIM:618213
Trichothiodystrophy
Congenital exfoliative erythroderma, Eczema, Abnormal pyramidal sign, Gait ataxia, Keratoconjunct... ORPHA:33364
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... ORPHA:805
Dihydropyrimidine Dehydrogenase Deficiency
Hypertonia, Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent beh... ORPHA:1675
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Polyphagia ORPHA:66628
Wiskott-Aldrich Syndrome
Eczema, Increased circulating IgA level, Reduced natural killer cell activity, Recurrent pneumoni... OMIM:301000
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Socia... ORPHA:353281
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Eczema, Inappropriate laughter, Attention deficit hyperactivity disorder, Recurre... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Eczema, Inappropriate laughter, Attention deficit hyperactivity disorder, Recurre... ORPHA:363958
Velocardiofacial Syndrome
Emotional lability, Impaired T cell function, Aggressive behavior OMIM:192430
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Anorexia, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, In... OMIM:181000
Vici Syndrome
Decreased circulating IgG level, Decreased T cell activation, Chronic mucocutaneous candidiasis, ... OMIM:242840
Mend Syndrome
Hyperactivity, Abnormal social behavior, Aggressive behavior, Limb hypertonia ORPHA:401973
22Q11.2 Deletion Syndrome
Acne, Impaired T cell function, Seborrheic dermatitis, Depression, Arthritis, Attention deficit h... ORPHA:567
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Socia... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Socia... ORPHA:353277
Williams Syndrome
Ataxia, Involuntary movements, Tremor, Dysmetria, Depression, Abnormality of extrapyramidal motor... ORPHA:904
Hereditary Orotic Aciduria
Impaired T cell function ORPHA:30
Orotic Aciduria
Impaired T cell function OMIM:258900
Digeorge Syndrome
Acne, Impaired T cell function, Seborrheic dermatitis, Recurrent pneumonia, Hemiparesis, Recurren... OMIM:188400
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Psoriasiform dermatitis ORPHA:2237
Progeroid Short Stature With Pigmented Nevi
Allergic conjunctivitis, Allergic rhinitis, Impaired T cell function OMIM:176690

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 Ntan1

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 Ntan1.

No publications found that use IMPC mice or data for Ntan1.

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
Ntan1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ntan1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ntan1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) 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