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Gene: Napb MGI:104562

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Gene Summary

Name:
N-ethylmaleimide sensitive fusion protein attachment protein beta
Synonyms:
b-SNAP,  I47,  Brp14,  E161,  SNARE

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
hyperactivity Napbtm1b(EUCOMM)Hmgu HET   Early adult 2.69×10-06
preweaning lethality, incomplete penetrance Napbtm1b(EUCOMM)Hmgu HOM   Early adult 1.47×10-05
decreased thigmotaxis Napbtm1b(EUCOMM)Hmgu HET Early adult 1.99×10-05
decreased anxiety-related response Napbtm1b(EUCOMM)Hmgu HET Early adult 1.63×10-05
abnormal behavior Napbtm1b(EUCOMM)Hmgu HET   Early adult 1.03×10-05
decreased locomotor activity Napbtm1b(EUCOMM)Hmgu HET Early adult 6.50×10-05

Download data as:  TSV  XLS

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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

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Napb 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 Napb by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental And Epileptic Encephalopathy 107
Tonic seizure, Clonic seizure, Seizure OMIM:620033

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Seizure, Ataxia ORPHA:1182
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Seizure, Ataxia OMIM:619061
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia ORPHA:22
Myoclonic Epilepsy, Familial Infantile
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Gait ataxia,... OMIM:605021
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia OMIM:208700
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Seizure, Ataxia ORPHA:85338
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Myoclonus, Tremor, Dysmetria, Babinski sign, Atonic seizure, Generalized myoclonic seizure OMIM:612437
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... ORPHA:101108
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Gait ataxia, Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... OMIM:616053
Dravet Syndrome
Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seiz... OMIM:607208
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Glycine Encephalopathy 1
Irritability, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Developmental And Epileptic Encephalopathy 24
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the a... OMIM:615871
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Hartnup Disorder
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Dentatorubral-Pallidoluysian Atrophy
Seizure, Chorea, Myoclonus, Parkinsonism, Ataxia, Choreoathetosis OMIM:125370
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Generalized non-motor (absence) seizure, Seizure, Chorea, Paresthesia, Low... ORPHA:98811
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Developmental And Epileptic Encephalopathy 52
Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, ... OMIM:617350
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ... OMIM:613855
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure, Ataxia OMIM:619191
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Developmental And Epileptic Encephalopathy 32
Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclo... OMIM:616366
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Juvenile Huntington Disease
Broad-based gait, Depression, Gait ataxia, Irritability, Hyperactivity, Ataxia, Bradykinesia, Pro... ORPHA:248111
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity OMIM:619470
Lennox-Gastaut Syndrome
Aggressive behavior, Falls, Hyperactivity, Irritability ORPHA:2382
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity OMIM:618090
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis ORPHA:382
Familial Infantile Myoclonic Epilepsy
Ataxia, Blepharospasm, Limb myoclonus, Seizure, Periventricular nodular heterotopia, Focal-onset ... ORPHA:352582
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Hyperactivity, Ataxia OMIM:300983
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability OMIM:617028
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:609425
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait OMIM:615516
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Phenylketonuria
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... OMIM:261600
Landau-Kleffner Syndrome
Depression, Gait ataxia, Emotional lability, Aggressive behavior, Attention deficit hyperactivity... ORPHA:98818
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... OMIM:618718
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia, Myoclonus, Action... ORPHA:101
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia OMIM:615924
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Depression, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:619467
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dysphagia, Impulsivity ORPHA:500180
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter, Impulsivity, Waddling... OMIM:620445
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia OMIM:271980
Epilepsy, Progressive Myoclonic, 10
Spasticity, Spastic tetraplegia, Seizure, Myoclonus, Spastic ataxia, Ataxia, Generalized myocloni... OMIM:616640
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301013
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Motor stere... OMIM:610042
Graves Disease
Polyphagia, Hyperactivity, Irritability OMIM:275000
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Dysphor... OMIM:620242
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Restlessness, Agitation ORPHA:100924
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Irritabil... ORPHA:449291
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Emotional lability, Dysmetria, Hyperactivity, Bradykinesia, Dysphagia, Dysdiadochoki... OMIM:610217
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Attention deficit hyperactivity disorder, Gait disturbance, H... ORPHA:43
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Low frustration tolerance, Self-mutilation, Stereotypical hand wringing... ORPHA:163681
Developmental And Epileptic Encephalopathy 107
Tonic seizure, Clonic seizure, Seizure OMIM:620033
X-Linked Creatine Transporter Deficiency
Athetosis, Hyperactivity, Self-mutilation, Ataxia ORPHA:52503
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Histidinemia
Hyperactivity ORPHA:2157
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Argininemia
Spastic gait, Irritability, Hyperactivity, Anorexia OMIM:207800
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Depression, Akinesia, Obsessive-compulsive trait, Motor tics, Gait disturbance, Hype... OMIM:234200
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Depression, Aggressive behavior, Hyperactivity, Ataxia, Choreoathetosis OMIM:612716
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation ORPHA:99819
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353277

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 Napb

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 Napb.

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

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
Napbtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Napbtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Napbtm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Napbtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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