Gene Summary

protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3
2410127E16Rik,  Liprin-alpha3

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 Ppfia3em1(IMPC)J HOM   Early adult 4.94×10-32
abnormal auditory brainstem response Ppfia3em1(IMPC)J HOM   Early adult 5.68×10-05
increased vertical activity Ppfia3em1(IMPC)J HOM Early adult 3.19×10-10
irregularly shaped pupil Ppfia3em1(IMPC)J HOM Early adult 8.49×10-06
abnormal vocalization Ppfia3em1(IMPC)J HOM Early adult 4.65×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

Eye Morphology

Images Slit Lamp

3 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

2 Images

Human diseases caused by Ppfia3 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 Ppfia3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Attention deficit hyperactivity disorder, EEG with centrotemporal focal spike waves OMIM:245570
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Immunodeficiency 8
Hyperactivity OMIM:615401
Mental Retardation, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, EEG abnormality, Ataxia, Broad-based gait OMIM:617665
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity ORPHA:436151
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Anterior Segment Dysgenesis 3
Rieger anomaly, Axenfeld anomaly, Posterior embryotoxon, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Intellectual Developmental Disorder, X-Linked 101
Macrotia, Hyperactivity OMIM:300928
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Abnormal auditory evoked potentials... ORPHA:320401
Charcot-Marie-Tooth Disease Type 1B
Hearing impairment, Abnormal pupil morphology, Decreased nerve conduction velocity ORPHA:101082
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Sotos Syndrome 3
Hyperactivity OMIM:617169
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Intellectual Developmental Disorder, X-Linked 107
Macrotia, Hyperactivity OMIM:301013
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduc... OMIM:601455
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis OMIM:225200
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Tortuosity of conjunctival vessels, Hyperactivity OMIM:248510
Mohr-Tranebjaerg Syndrome
Inability to walk, Dystonia, Attention deficit hyperactivity disorder, Postlingual sensorineural ... ORPHA:52368
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Hyperprolinemia, Type I
EEG abnormality, Ataxia, Hyperactivity OMIM:239500
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hyperactivity ORPHA:85288
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Charcot-Marie-Tooth Disease Type 1E
Inability to walk, Anisocoria, Difficulty walking, Gait disturbance, Sensorineural hearing impair... ORPHA:90658
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Falls, Hyperactivity ORPHA:2382
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Ataxia, EEG abnormality, Hyperactivity, Broad-based gait ORPHA:411515
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Abnormality of the pinna, Ataxia, Hyperactivity OMIM:300983
Hyperlysinemia, Type I
Ectopia lentis, Hyperactivity OMIM:238700
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism ORPHA:54
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Mydriasis ORPHA:247815
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Hypsarrhythmia, EEG with focal epileptiform discharges, Multifocal epileptiform dischar... ORPHA:88616
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Aganglionic megacolon ORPHA:2151
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Optic atrophy, Hyperactivity OMIM:274270
Alacrima, Achalasia, And Mental Retardation Syndrome
Anisocoria, Orthostatic hypotension, Gait disturbance, Abnormal autonomic nervous system physiolo... OMIM:615510
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Optic Atrophy 11
Facial diplegia, Macrotia, Ataxia, Hearing impairment, Dysmetria, Hyperactivity, Optic atrophy OMIM:617302
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Short Syndrome
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Megalocornea, Sensorineural heari... ORPHA:3163
Fraxe Intellectual Disability
Prominent ear helix, Hyperactivity ORPHA:100973
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Gait ataxia, Interictal EEG abnormality, EEG with temporal focal s... ORPHA:98818
Mental Retardation, Autosomal Recessive 39
Macrotia, Hyperactivity OMIM:615541
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Cataract, Blue irides, Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Leukocoria, Uveitis, Iris c... OMIM:221900
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sensorineural hearing im... ORPHA:1215
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Ectopia pupillae, Sensorineural hearing impairment, Posterior embryotoxon OMIM:602482
Facial Spasm
Anisocoria OMIM:134300
Familial Dysautonomia
Heterochromia iridis, Orthostatic hypotension, Corneal erosion, Gait disturbance, Corneal opacity... ORPHA:1764
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Rieger anomaly, Sensorineural hearing impairment, Abnormally... OMIM:109120
Anisocoria OMIM:106240
Chromosome 3Q29 Deletion Syndrome
Posteriorly rotated ears, Gait ataxia, Macrotia, Hyperactivity OMIM:609425
Cln5 Disease
Dysdiadochokinesis, Inability to walk, EEG with spike-wave complexes, Truncal ataxia, Ataxia, EEG... ORPHA:228360
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Chorioretinal hypopigmentation, Ectopia... OMIM:106210
Rasmussen Subacute Encephalitis
Inability to walk, EEG with focal epileptiform discharges, Interictal epileptiform activity, EEG ... ORPHA:1929
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Ataxia, Optic ... OMIM:231550
Mental Retardation, Autosomal Recessive 61
Posteriorly rotated ears, EEG abnormality, Hyperactivity OMIM:617773
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Blue irides, Hyperactivity OMIM:615516
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Duane Retraction Syndrome
Aniridia, Central heterochromia, Chorioretinal coloboma, Narrow internal auditory canal, Blepharo... ORPHA:233
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Hec Syndrome
Developmental cataract, Abnormal pupil morphology ORPHA:2119
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Hyperactivity OMIM:618342
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Ciliary body melanoma, Zonular cataract, Iris melanoma ORPHA:39044
Abnormal pupil morphology, Microcornea, Iris coloboma ORPHA:3374
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Trisomy 9P
Protruding ear, Abnormal pupil morphology, Macrotia ORPHA:236
Intellectual Developmental Disorder, X-Linked 30
Macrotia, Hyperactivity OMIM:300558
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, EEG abnormality, Hyperactivity OMIM:618718
Myoclonic-Astatic Epilepsy
Ataxia, Interictal epileptiform activity, EEG with polyspike wave complexes, EEG with generalized... ORPHA:1942
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Succinic Semialdehyde Dehydrogenase Deficiency
EEG abnormality, Ataxia, Hyperactivity OMIM:271980
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Gait disturbance, Ataxia, EEG abnormality, Broad-... ORPHA:206448
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Ataxia, Cataract, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic di... OMIM:619260
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hearing impairment, Broad-based gait, Hyperactivity ORPHA:457260
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, EEG abnormality, Hyperactivity ORPHA:500180
Coats Disease
Leukocoria OMIM:300216
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Focal EEG discharges with secondary generalization, Shuffling gait, Hyperactivity ORPHA:3077
Hyperphosphatasia With Mental Retardation Syndrome 6
Thickened helices, Developmental cataract, EEG with multifocal slow activity, Hyperactivity, Larg... OMIM:616809
Neurodevelopmental Disorder With Or Without Autism Or Seizures
EEG with burst suppression, Hypsarrhythmia, Hyperactivity OMIM:619239
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Intellectual Developmental Disorder, Autosomal Recessive 71
Macrotia, Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, EEG with spike-wave complexes, EEG with series of focal spikes, EEG with photo... ORPHA:168491
Distal Monosomy 6P
Abnormal anterior chamber morphology, Posterior embryotoxon, Corneal opacity, Hypoplasia of the i... ORPHA:96125
Mental Retardation, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Heterochromia iridis, Long-segment aganglionic megacolon, A... OMIM:609136
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Gait ataxia, Limb ataxia, Unsteady gait, Sensorineural hearing impairment, Opt... ORPHA:101085
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... OMIM:256800
Coffin-Siris Syndrome 7
Posteriorly rotated ears, Hearing impairment, Macrotia, Hyperactivity OMIM:618027
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Adult-Onset Autosomal Dominant Leukodystrophy
Dysdiadochokinesis, Gait ataxia, Autonomic bladder dysfunction, Orthostatic hypotension, Gait dis... ORPHA:99027
Proteus-Like Syndrome
Cataract, Abnormal pupil morphology, Limbal dermoid, Heterochromia iridis ORPHA:2969
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperopic astigmatism, Hyperactivity ORPHA:397973
Alagille Syndrome
Keratoconus, Protruding ear, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Rubinstein-Taybi Syndrome 2
Posterior helix pit, Hyperactivity OMIM:613684
Gand Syndrome
Hyperactivity OMIM:615074
Superficial Siderosis
Dysdiadochokinesis, Anisocoria, Bilateral sensorineural hearing impairment, Progressive gait atax... ORPHA:247245
Lethargy, Anisocoria, Abnormal uvea morphology, Conjunctivitis, Facial palsy, Tinnitus, Conjuncti... ORPHA:863
Ck Syndrome
Posteriorly rotated ears, Hyperactivity ORPHA:251383
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Norrie Disease
Abnormal chorioretinal morphology, Abnormal pupil morphology, Macrotia, Anterior chamber synechia... ORPHA:649
Intellectual Developmental Disorder, X-Linked 98
Hypsarrhythmia, Macrotia, Ataxia, Hyperactivity OMIM:300912
Cockayne Syndrome Type 1
Macrotia, Difficulty walking, Gait disturbance, Uveitis, Ataxia, Cataract, Hearing impairment, Ab... ORPHA:90321
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
Ck Syndrome
Posteriorly rotated ears, Hyperactivity OMIM:300831
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hearing impairment, Optic atrophy, Hyperactivity ORPHA:369939
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Broad-based gait, Hyperactivity OMIM:617865
Anotia, Hypoplastic helices, Atresia of the external auditory canal, Abnormality of the pinna, Mi... ORPHA:83463
Axenfeld-Rieger Syndrome, Type 1
Aniridia, Polycoria, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Megalocornea,... OMIM:180500
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Revesz Syndrome
Leukocoria, Megalocornea, Ataxia OMIM:268130
Iatrogenic Botulism
Mydriasis, Orthostatic hypotension ORPHA:254509
Charcot-Marie-Tooth Disease Type 4C
Inability to walk, Gait ataxia, Anisocoria, Abnormal motor nerve conduction velocity, Difficulty ... ORPHA:99949
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Persistent pupillary membrane, Microcornea, Large earlobe OMIM:257850
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hearing impairment, Broad-based gait, Hyperactivity OMIM:300958
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conjunctival icterus, Abno... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conjunctival icterus, Abno... ORPHA:529799
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Optic atrophy, Cataract OMIM:618727
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Hyperactivity OMIM:300143
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Abnormal autonomic nervous system physiology, Ataxia, Unsteady gait, ... ORPHA:35069
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Ataxia, EEG abnormality, EEG with abnormally slow frequencies, Hyperactivi... ORPHA:98794
Pierson Syndrome
Hypoplasia of the ciliary body, Microcoria, Posterior lenticonus, Hypoplasia of the iris OMIM:609049
Fragile X Syndrome
Macrotia, Hyperactivity OMIM:300624
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Unsteady gait, EEG with focal spikes, Hyperactivity ORPHA:485350
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Mend Syndrome
Cataract, Hyperactivity OMIM:300960
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Hyperactivity OMIM:614613
Pitt-Hopkins-Like Syndrome 1
EEG abnormality, Ataxia, Hyperactivity OMIM:610042
Mental Retardation, Autosomal Dominant 7
Thickened helices, Macrotia, Gait disturbance, Abnormality of the pinna, Ataxia, Hyperactivity OMIM:614104
Cerebrotendinous Xanthomatosis
Dystonia, Gait disturbance, Abnormal motor evoked potentials, Ataxia, Abnormal auditory evoked po... ORPHA:909
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Bilateral sensorineural hearing impairment, Sensorineural hearing impairment, Hyperactivity, Atte... ORPHA:73272
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Gait ataxia, Ataxia, Hyperactivity ORPHA:363400
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Polycoria, Corneal opacity, Facial paralysis, Hypoplasia of the iris, Ect... OMIM:175780
X-Linked Creatine Transporter Deficiency
Dystonia, Aganglionic megacolon, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity OMIM:615286
Angelman Syndrome
Progressive gait ataxia, EEG abnormality, Hyperactivity, Blue irides, Broad-based gait OMIM:105830
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Posteriorly rotated ears, Microtia, Hyperactivity OMIM:618089
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Smith-Magenis Syndrome
Hearing impairment, EEG abnormality, Morphological abnormality of the middle ear, Hyperactivity OMIM:182290
Intestinal Botulism
Mydriasis ORPHA:178481
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macrotia, Ataxia, Multifocal epileptiform discharges, Ocular anterior segment dysgenesis, Hearing... ORPHA:369891
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Fatigable weakness of skeletal muscles, Hyperactivity ORPHA:166108
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Lentiglobus, Chorioretinal dysplasia, Low-set, posteriorly rotated ears, Corneal opa... ORPHA:534
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Lamb-Shaffer Syndrome
Optic atrophy, Ataxia, Hyperactivity ORPHA:530983
Cockayne Syndrome B
Abnormality of the pinna, Ataxia, Hypoplasia of the iris, Cataract, Abnormal auditory evoked pote... OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane OMIM:613150
Oculo-Palato-Cerebral Syndrome
Cataract, Thickened helices, Leukocoria, Macrotia ORPHA:2714
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
Cockayne Syndrome A
Gait disturbance, Abnormality of the pinna, Ataxia, Cataract, Abnormal auditory evoked potentials... OMIM:216400
Gomez-Lopez-Hernandez Syndrome
Posteriorly rotated ears, Opacification of the corneal stroma, Ataxia, Hyperactivity OMIM:601853
Mucopolysaccharidosis, Type Iiia
Hearing impairment, Hyperactivity OMIM:252900
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Wound Botulism
Mydriasis ORPHA:178475
Potocki-Lupski Syndrome
Hearing impairment, EEG abnormality, Hyperactivity OMIM:610883
Chromosome 2Q37 Deletion Syndrome
Sensorineural hearing impairment, Hyperactivity OMIM:600430
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Cupped ear, Ectopia pupillae, Overfolded helix OMIM:618223
Mend Syndrome
Cataract, Abnormal auditory evoked potentials, Hyperactivity ORPHA:401973
Inhalational Botulism
Mydriasis ORPHA:254504
Nephronophthisis 11
Anisocoria OMIM:613550
X-Linked Adrenoleukodystrophy
Gait disturbance, Progressive hearing impairment, Attention deficit hyperactivity disorder, Hyper... ORPHA:43
Hyperactivity ORPHA:2157
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Hyperactivity OMIM:609727
Cri-Du-Chat Syndrome
Difficulty walking, Abnormality of the pinna, Cataract, Hearing impairment, Hyperactivity, Optic ... OMIM:123450
Witteveen-Kolk Syndrome
Anisocoria, Macrotia, Iris coloboma, Cupped ear, Hearing impairment, Hyperactivity, Attention def... OMIM:613406
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Dysmetria, Hyperactivity, Optic atrophy OMIM:610217
Infantile Krabbe Disease
Hearing impairment, Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerv... ORPHA:206436
Mucopolysaccharidosis, Type Iiib
Hearing impairment, Hyperactivity OMIM:252920
Angelman Syndrome
Inability to walk, Keratoconus, Iris hypopigmentation, Ataxia, EEG abnormality, Hyperactivity, As... ORPHA:72
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Macrotia, Hyperactivity ORPHA:391307
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Anisocoria, Overfolded helix OMIM:618653
Mydriasis ORPHA:1267
13Q12.3 Microdeletion Syndrome
Hearing impairment, Hyperactivity ORPHA:412035
Foodborne Botulism
Mydriasis ORPHA:228371
2Q23.1 Microdeletion Syndrome
Ataxia, Hyperactivity ORPHA:228402
Juvenile Glaucoma
Abnormality iris morphology, Temporal optic disc pallor, Increased cup-to-disc ratio, Optic neuro... ORPHA:98977
Infant Botulism
Keratoconjunctivitis sicca, Mydriasis ORPHA:178478
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Astigmatism, Hyperopic astigmatism, Optic nerve hypoplasia, Hyperactivity ORPHA:363686
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Hearing impairment, Dysmetria, H... ORPHA:139396
Serotonin Syndrome
Abnormality of the autonomic nervous system, Mydriasis ORPHA:43116
Alternating Hemiplegia Of Childhood
Dystonia, Mydriasis, Abnormal autonomic nervous system physiology, Ataxia ORPHA:2131
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Macrotia, Hyperactivity OMIM:300486
Trisomy 10P
Low voltage EEG, Macrotia, EEG with burst suppression, Posteriorly rotated ears, Abnormal auditor... ORPHA:171929
Mucopolysaccharidosis, Type Iiic
Hearing impairment, Hyperactivity OMIM:252930
Purine Nucleoside Phosphorylase Deficiency
Sensorineural hearing impairment, Ataxia, Hyperactivity ORPHA:760
Mucopolysaccharidosis, Type Iiid
Hearing impairment, Hyperactivity OMIM:252940
Leukocoria, Hypopyon, Uveitis, Heterochromia iridis ORPHA:790
White-Sutton Syndrome
Iris coloboma, Posteriorly rotated ears, Sensorineural hearing impairment, EEG abnormality, Hyper... ORPHA:468678
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Hyperactivity OMIM:103050
X-Linked Intellectual Disability, Cabezas Type
Abnormality of earlobe, EEG abnormality, Broad-based gait, Hyperactivity ORPHA:85293
Stankiewicz-Isidor Syndrome
Hearing impairment, Abnormality of the optic disc, Hyperactivity OMIM:617516
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Inability to walk, Uplifted earlobe, Axenfeld anomaly, Aganglionic megacolon, Iris coloboma, Post... ORPHA:261552
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Abnormality of the pinna, Macrotia, Hyperactivity OMIM:618505
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Macrotia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:449291
Joubert Syndrome 1
Chorioretinal coloboma, Optic disc pallor, Ataxia, Hyperactivity OMIM:213300
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Wolf-Hirschhorn Syndrome
Conductive hearing impairment, Rieger anomaly, Iris coloboma, Abnormality of the pinna, Ectopia p... OMIM:194190
Bone Marrow Failure Syndrome 3
Astigmatism, Cupped ear, Hearing impairment, Hyperactivity OMIM:617052
Mowat-Wilson Syndrome
Uplifted earlobe, Chorioretinal coloboma, Aganglionic megacolon, Iris coloboma, Cupped ear, Ectop... OMIM:235730
EEG with spike-wave complexes, Hypoplastic helices, Hypoplasia of the antihelix, Dysmetria, Hyper... ORPHA:2203
Pituitary Apoplexy
Mydriasis ORPHA:95613
Cutis Marmorata Telangiectatica Congenita
Leukocoria ORPHA:1556
Mucopolysaccharidosis Type 3
Thickened helices, Abnormality of the middle ear ossicles, Conductive hearing impairment, Gait di... ORPHA:581
Leukocoria OMIM:180200
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Ataxia, Unsteady gait, Protruding ear, Dysmetria, Hyperactivity, Short ear OMIM:614756
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity, Optic a... OMIM:234200
Brooks-Wisniewski-Brown syndrome
Posteriorly rotated ears, Cupped ear, Protruding ear, EEG abnormality, Hyperactivity, Optic atrophy OMIM:300612
Oculoectodermal Syndrome
Opacification of the corneal stroma, Microcornea, Hyperactivity, Astigmatism, Limbal dermoid OMIM:600268
Dubowitz Syndrome
Iris coloboma, Hypoplasia of the iris, Megalocornea, Protruding ear, Hyperactivity OMIM:223370
Early Infantile Epileptic Encephalopathy
Dystonia, EEG with spike-wave complexes, Episodic ataxia, Uni- and bilateral multifocal epileptif... ORPHA:1934
Brain-Lung-Thyroid Syndrome
Dystonia, Ataxia, Sensorineural hearing impairment, Falls, Hyperactivity ORPHA:209905
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Sensorineural hearing impairment, Mydriasis OMIM:619351
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Scorpion Envenomation
Mydriasis, Ataxia ORPHA:466677
Dyrk1A-Related Intellectual Disability Syndrome
Macrotia, Gait disturbance, Corneal opacity, Protruding ear, Hyperactivity, Astigmatism, Optic di... ORPHA:464306
Spastic gait, Hyperactivity OMIM:207800
Monosomy 9Q22.3
Thickened ears, Cataract, Hyperactivity ORPHA:77301
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Posteriorly rotated ears, Astigmatism, Attention deficit hyperactivity disorder, Hyperactivity OMIM:607721
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Decreased corneal reflex, Difficulty walkin... ORPHA:642
Cocaine Intoxication
Mydriasis ORPHA:90068
Distal Trisomy 17Q
Low-set, posteriorly rotated ears, Protruding ear, Bilateral sensorineural hearing impairment, Hy... ORPHA:3379
Hearing impairment, Unsteady gait, Mydriasis, Conjunctival hyperemia ORPHA:707
Vascular Ehlers-Danlos Syndrome
Abnormal pupil morphology, Keratoconus, Protruding ear, Aplasia/Hypoplasia of the earlobes ORPHA:286
Mucopolysaccharidosis Type 2
Otosclerosis, Conductive hearing impairment, Papilledema, Corneal opacity, Sensorineural hearing ... ORPHA:580
Sponastrime Dysplasia
Microcoria, Congenital aphakia, Cataract ORPHA:93357
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Protruding ear, Hypsarrhythmia, Hyperactivity ORPHA:447997
Maternal Phenylketonuria
Hypoplastic helices, Hyperactivity ORPHA:2209
Decreased amplitude of sensory action potentials, Blepharospasm, Abnormal autonomic nervous syste... ORPHA:2388
Acrodysostosis With Multiple Hormone Resistance
Blue irides, Hyperactivity ORPHA:280651


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 Ppfia3

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 Ppfia3.

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

Title Journal IMPC Allele PubMed ID
Liprins in oncogenic signaling and cancer cell adhesion. Oncogene (October 2021) Ppfia3em1(IMPC)J 34654889

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MGI Allele Allele Type Produced
Ppfia3em1(IMPC)J Exon Deletion Mice
Ppfia3tm42352(L1L2_gt0) Targeting vectors

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