Gene: Ap3m2 MGI:1929214

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Gene Summary

Name:
adaptor-related protein complex 3, mu 2 subunit
Synonyms:
5830445E16Rik,  AP-3B

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
thick ventricular wall Ap3m2em2(IMPC)H HOM   Early adult 1.47×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Echo

M-Mode Images

24 Images

Human diseases caused by Ap3m2 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 Ap3m2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Abnormal cerebral white matter morphology, Myoclonic absence seizure, Multifocal epileptiform dis... OMIM:618596
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), EEG with generalized spikes, EEG w... OMIM:615369
Developmental And Epileptic Encephalopathy 57
Hypsarrhythmia, Hypoplasia of the corpus callosum, Seizure, Generalized myoclonic seizure, Atypic... OMIM:617771
Epilepsy, Myoclonic Juvenile
EEG with generalized polyspikes, Bilateral tonic-clonic seizure, Status epilepticus, Generalized ... OMIM:254770
Continuous Spikes And Waves During Sleep
EEG with generalized polyspikes, Atonic seizure, Focal-onset seizure, Myoclonic absence seizure, ... ORPHA:725
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic... OMIM:600669
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic... OMIM:607631
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:306
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Cerebral atrophy, Bilateral... OMIM:607208
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral tonic-clonic seizure ... OMIM:607682
Developmental And Epileptic Encephalopathy 26
Hypsarrhythmia, Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure,... OMIM:616056
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:607681
Perioral Myoclonia With Absences
EEG with spike-wave complexes, Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-mo... ORPHA:139426
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... OMIM:300088
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with spike-wave complexes, Bilateral tonic-clonic seizure, Interictal epileptiform activity, ... OMIM:254800
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic... OMIM:609446
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Pachygyria, Atonic seizure, Bilate... OMIM:618873
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... ORPHA:307
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, Atonic seizure, Absence seizure with eyelid myoclonia, Abnormal ce... OMIM:618587
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... ORPHA:1941
Developmental And Epileptic Encephalopathy 18
Focal-onset seizure, Generalized non-motor (absence) seizure, EEG abnormality, Thick corpus callo... OMIM:615476
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Pyridoxine-Dependent Epilepsy
Hypsarrhythmia, Atonic seizure, Focal-onset seizure, EEG with burst suppression, Hypoplasia of th... ORPHA:3006
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure, Interictal epileptiform activity, Seizure, G... OMIM:619157
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, E... ORPHA:2382
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:617924
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:616172
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... OMIM:613863
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Bilateral tonic-clonic seizure, EEG with polyspike wave complexes, Myo... OMIM:619000
Landau-Kleffner Syndrome
Generalized clonic seizure, EEG with frontal focal spikes, EEG with temporal focal spikes, Interi... ORPHA:98818
Developmental And Epileptic Encephalopathy 19
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Focal hemiclonic s... OMIM:615744
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes, Gen... ORPHA:36387
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... OMIM:604233
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Ceroid Lipofuscinosis, Neuronal, 6
Seizure, Abnormal nervous system electrophysiology OMIM:601780
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Polymicrogyria, Bilateral Perisylvian, X-Linked
Polymicrogyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Pachygyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613060
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized-ons... ORPHA:79137
Ceroid Lipofuscinosis, Neuronal, 2
Seizure, Cerebral atrophy, Abnormal nervous system electrophysiology, Myoclonus OMIM:204500
Developmental And Epileptic Encephalopathy 67
Hypsarrhythmia, Seizure, Generalized non-motor (absence) seizure, EEG abnormality, Generalized my... OMIM:618141
Developmental And Epileptic Encephalopathy 6B
EEG with spike-wave complexes (>3.5 Hz), Focal-onset seizure, Hypoplastic hippocampus, Myoclonic ... OMIM:619317
Epilepsy, Progressive Myoclonic, 6
Seizure, Atonic seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:614018
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... ORPHA:86909
Autosomal Dominant Non-Syndromic Intellectual Disability
Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Generalized-onset seizur... ORPHA:178469
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure, EEG abnormality OMIM:300801
Hyperinsulinism-Hyperammonemia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, EEG with generalized epilepti... ORPHA:35878
Dravet Syndrome
Generalized clonic seizure, Complex febrile seizure, Febrile seizure (within the age range of 3 m... ORPHA:33069
Developmental And Epileptic Encephalopathy 52
Febrile seizure (within the age range of 3 months to 6 years), Atypical absence seizure, Focal he... OMIM:617350
Bilateral Frontoparietal Polymicrogyria
Atonic seizure, Seizure, Cerebral dysmyelination, Bilateral tonic-clonic seizure with generalized... ORPHA:101070
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Atonic seizure, Eyelid myoclonus, Abnormal lower motor neuron morphology, Seizure, Bilateral toni... ORPHA:2590
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Focal hemifacial clonic seizure, F... ORPHA:1945
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Generalized tonic seizure, Focal emotional seizure with laugh... ORPHA:208447
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, EEG abnormality, Bilateral tonic-clonic seizure, Generalized myoclonic... OMIM:617836
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614280
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus OMIM:616421
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Status epilepticus, Generalized non-motor (absence) seizure, Seiz... OMIM:271980
Glycosylphosphatidylinositol Biosynthesis Defect 1
Seizure, Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Lissencephaly Due To Lis1 Mutation
Cavum septum pellucidum, Generalized tonic seizure, EEG with spike-wave complexes, Pachygyria, Po... ORPHA:95232
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Bilateral tonic-clo... ORPHA:485350
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized tonic seizure, Occipital cortical atrophy, Hypsarrhythmia, Atonic seizure, Hypoplasia... ORPHA:411986
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure, Abnormal periventricular white matter morphology OMIM:618992
Myoclonic-Astatic Epilepsy
Atonic seizure, Focal-onset seizure, EEG with generalized slow activity, EEG with polyspike wave ... ORPHA:1942
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, EEG with spike-wave complexes, EEG with series of focal spikes, Corpus callos... ORPHA:168491
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure, Leukoencephalopathy OMIM:618242
Intellectual Developmental Disorder, X-Linked 98
Hypsarrhythmia, Secondary microcephaly, Status epilepticus, Generalized non-motor (absence) seizu... OMIM:300912
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Complex febrile seizure, Focal motor seizure, Bilateral ... OMIM:619338
Paroxysmal Exertion-Induced Dyskinesia
Seizure, Generalized non-motor (absence) seizure ORPHA:98811
Lafora Disease
Hypsarrhythmia, Erratic myoclonus, Atonic seizure, Focal-onset seizure, Atypical absence seizure,... ORPHA:501
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Seizure, Bilateral tonic-... ORPHA:98795
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Eyelid myoclonus, Cerebral atrophy, Secondary microcephaly OMIM:613839
Liang-Wang Syndrome
Status epilepticus, Generalized non-motor (absence) seizure, Cerebral atrophy OMIM:618729
Early Infantile Epileptic Encephalopathy
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Uni- a... ORPHA:1934
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Lafora bodies, Generalized non-motor (absence) seizure, Myoclonus... OMIM:254780
Syngap1-Related Developmental And Epileptic Encephalopathy
Microcephaly, Eating-induced seizure, Myoclonic absence seizure, Generalized-onset seizure ORPHA:544254
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
EEG with frontal sharp slow waves, Hypsarrhythmia, Hypoplasia of the corpus callosum, Bilateral t... ORPHA:457351
Nicolaides-Baraitser Syndrome
Status epilepticus, Generalized non-motor (absence) seizure, Seizure, Microcephaly, Epileptic spasm ORPHA:3051
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic absence seizure, Bilater... ORPHA:64280
Satb2-Associated Syndrome Due To A Pathogenic Variant
Seizure, Abnormal cerebral white matter morphology, Typical absence seizure ORPHA:576283
Kohlschutter-Tonz Syndrome-Like
Generalized clonic seizure, Generalized tonic seizure, Hypsarrhythmia, Focal-onset seizure, Multi... OMIM:619229
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Focal emotional seizure with laughing, Cerebral white matter atrophy, Atonic seizure, Hypoplasia ... ORPHA:79351
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure OMIM:617183
X-Linked Non-Syndromic Intellectual Disability
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:777
Kleefstra Syndrome Due To 9Q34 Microdeletion
Absent septum pellucidum, Status epilepticus, Generalized non-motor (absence) seizure, Seizure, C... ORPHA:96147
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Abnormal periventricular white matter morphology, Focal-onset seizure, Abnormal cerebral white ma... ORPHA:395
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Cerebral white matter atrophy, Bilateral tonic-clonic seizure... ORPHA:435638
Angelman Syndrome
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Sei... ORPHA:72
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Status epilepticus, Generalized non-motor (absence) seizure, Seizure, Tonic seizure, Microcephaly OMIM:300260
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Hypoplasia of the corpus callosum, Cerebral atrophy, Bilateral tonic-clonic seizure, Generalized ... OMIM:615802
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure, Abnormal cerebral white matter morphology ORPHA:363686
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Focal emotional seizure with laughing, Fatigable weakness of speech muscles, Atonic seizure, Cere... ORPHA:404454
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized tonic seizure, EEG with spike-wave complexes, Bilateral tonic-clonic seizure, Multifo... ORPHA:369837
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pachygyria, Focal-onset seizure, Seizure, Generalized non-motor (absence) seizure, Cerebral edema... ORPHA:258
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure, Abnormal size of pituitary gland, Decreased response to ... ORPHA:293978
Tay-Sachs Disease
Hypointensity of cerebral white matter on MRI, Abnormal thalamic MRI signal intensity, Seizure, M... ORPHA:845
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Pachygyria, Hypoplasia of the corp... ORPHA:513456
Kinsship Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Pri... OMIM:619297
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... ORPHA:466943
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Hypoplasia of the ... ORPHA:268261
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Simple febrile seizure, Typical absence seizure, Bilateral tonic-clonic seizure ORPHA:466950
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Status epilepticus, Generalized non-motor (absence) seizure, Seizure, Microcephaly, Epileptic spasm ORPHA:2636
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hypoplasia of the corpus callosum, Seizure, Microcephaly, Typical absence seizure, Agenesis of co... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hypoplasia of the corpus callosum, Seizure, Microcephaly, Typical absence seizure, Agenesis of co... ORPHA:352665
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Generalized non-mot... ORPHA:500150
Sotos Syndrome
Cavum septum pellucidum, Aplasia/Hypoplasia of the corpus callosum, Cerebral atrophy, Bilateral t... ORPHA:821
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Focal-onset seizure, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Seizure... ORPHA:261537
Mowat-Wilson Syndrome
EEG with spike-wave complexes, Focal-onset seizure, Abnormal cerebral white matter morphology, Hy... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Focal-onset seizure, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Seizure... ORPHA:261552
Niemann-Pick Disease Type B
Generalized non-motor (absence) seizure ORPHA:77293
Alström Syndrome
Typical absence seizure, Elevated circulating thyroid-stimulating hormone concentration, Decrease... ORPHA:64

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 Ap3m2

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 Ap3m2.

No publications found that use IMPC mice or data for Ap3m2.

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MGI Allele Allele Type Produced
Ap3m2em2(IMPC)H Indel Mice

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