Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

protein tyrosine phosphatase, receptor type, F

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Ptprf 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 Ptprf by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Highly arched eyebrow, Absent nipple, Hypoplastic nipples, Cryptorchidism OMIM:616001

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

Disease Similarity of
Matching phenotypes Source
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions OMIM:618830
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Immunodeficiency 8
Hyperactivity OMIM:615401
Morm Syndrome
Hyperactivity, Aggressive behavior, Retinal dystrophy, Retinal atrophy ORPHA:75858
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Diffi... OMIM:619191
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Aggressive behavior, Poor eye contact, Hyperactivity, Ataxia OMIM:300983
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Cognitive impairment, Optic nerve hypoplasia, Ataxia, Emotional lability, Attention de... OMIM:614306
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Dystonia, Hyperactivity, Ataxia OMIM:615924
Juvenile Huntington Disease
Dystonia, Dementia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ata... ORPHA:248111
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Irritability, Lethargy OMIM:605899
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Optic atrophy, Broad-based gait OMIM:619470
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior OMIM:604317
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Aggressive behavior, Falls ORPHA:2382
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Social and occupational deterioration, Hyperactivity, Emotion... ORPHA:98818
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Early-Onset Schizophrenia
Shyness, No social interaction, Unhappy demeanor, Suicidal ideation, Cognitive impairment, Lack o... ORPHA:96369
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... OMIM:261600
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior OMIM:309548
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Anxiety, Aggressive behavior, Gait ataxia OMIM:609425
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior ORPHA:100973
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy, Lethargy OMIM:274270
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety OMIM:616977
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Hyperactivity, Ataxia, Impaired social interactions, Progressive language de... OMIM:610042
Cln5 Disease
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... ORPHA:228360
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Aggressive behavior, Abnormal social behavior ORPHA:101039
Rasmussen Subacute Encephalitis
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Emotional lability, Irritab... ORPHA:1929
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Abnormal neuron morphology, Aggressive behavior, Self-mutilation, Poor eye contact,... ORPHA:163681
Optic Atrophy 11
Optic atrophy, Dysmetria, Facial diplegia, Hyperactivity, Ataxia OMIM:617302
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Aggressive behavior, Ataxia OMIM:612716
Infantile Neuroaxonal Dystrophy
Gait disturbance, Dystonia, Abnormality of peripheral nerve conduction, Optic atrophy, Hyperactiv... ORPHA:35069
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Dementia, Retinal degeneration, Motor deterioration, Aggressive behavior, Hyper... ORPHA:168491
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:271980
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Cognitive impairment, Hyperactivity, Ataxia, Gait ataxia, ... ORPHA:363400
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior OMIM:617773
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619467
Myoclonic-Astatic Epilepsy
Lack of peer relationships, Hyperactivity, Ataxia, Impaired social interactions, Unsteady gait, A... ORPHA:1942
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Shyness, Self-injurious behavior, Aggressive behavior, Poor eye contact, Hyperactivity, Irritabil... ORPHA:449291
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior, Hyperactivity OMIM:301013
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Ataxia, Hyperactivity, Happy demeanor, Broad-based gait ORPHA:411515
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability OMIM:300831
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait OMIM:617865
Early-Onset Autosomal Dominant Alzheimer Disease
Dementia, Semantic dementia, Ataxia, Abnormal social behavior, Memory impairment ORPHA:1020
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior, Optic atrophy ORPHA:369939
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Inability to walk OMIM:618718
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Optic atrophy, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Emotional la... OMIM:610217
Lamb-Shaffer Syndrome
Abnormal social behavior, Hyperactivity, Ataxia, Optic atrophy ORPHA:530983
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, Unste... ORPHA:485350
X-Linked Adrenoleukodystrophy
Gait disturbance, Dementia, Aggressive behavior, Cognitive impairment, Hyperactivity, Attention d... ORPHA:43
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Gait ataxia ORPHA:500180
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Anxiety, Aggressive behavior OMIM:300558
Fragile X Syndrome
Hyperactivity, Poor eye contact OMIM:300624
Adenylosuccinase Deficiency
Happy demeanor, Aggressive behavior, Self-mutilation, Poor eye contact, Hyperactivity, Inability ... OMIM:103050
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Cri-Du-Chat Syndrome
Optic atrophy, Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivi... OMIM:123450
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:300958
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Aganglionic megacolon, Self-mutilation, Hyperactivity, Ataxia ORPHA:52503
Smith-Magenis Syndrome
Hyperactivity, Retinal detachment, Self-mutilation, Head-banging OMIM:182290
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration OMIM:252920
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Dementia, Dystonia, Pigmentary retinopathy, Optic atrophy, Retinal degeneration... OMIM:234200
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Hyperactivity, Cognitive impairment, Ataxia OMIM:601853
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Motor deterioration, Rod-cone dystrophy OMIM:252930
Mental Retardation, Autosomal Dominant 7
Hyperactivity, Gait disturbance, Happy demeanor, Ataxia OMIM:614104
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:600430
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Mental deterioration, Diff... ORPHA:139396
Angelman Syndrome
Optic atrophy, Optic disc pallor, Happy demeanor, Self-injurious behavior, Aggressive behavior, P... ORPHA:72
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Aggressive behavior, Hyperactivity, Emotional lability, Low frustration tolerance, Impaired socia... OMIM:309520
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:391307
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Self-biting OMIM:618314
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Ataxia ORPHA:228402
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Hyperactivity, Aggressive behavior, Ataxia ORPHA:369891
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Congenital stationary night blindness, I... ORPHA:8
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Myopathy With Extrapyramidal Signs
Dystonia, Optic atrophy, Hyperactivity, Ataxia, Difficulty walking OMIM:615673
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Anxiety, Aggressive behavior, Ataxia OMIM:618430
16P12.1P12.3 Triplication Syndrome
Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Nail-biting ORPHA:485405
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Optic nerve hypoplasia, Self-mutilation, Low frustration tolerance ORPHA:363686
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Hyperactivity, Emotional lability, Postural hypotension with compensatory tachyc... OMIM:256800
Joubert Syndrome 1
Optic disc pallor, Chorioretinal coloboma, Retinal dysplasia, Retinal dystrophy, Aggressive behav... OMIM:213300
Citrullinemia Type Ii
Aggressive behavior, Hyperactivity, Irritability, Memory impairment, Lethargy ORPHA:247585
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Self-mutilation, Low frustration tolerance, Gait ataxia OMIM:300486
Intellectual Developmental Disorder, X-Linked 98
Self-biting, Aggressive behavior, Poor eye contact, Hyperactivity, Ataxia, Anxiety, Impaired soci... OMIM:300912
13Q12.3 Microdeletion Syndrome
Hyperactivity, Self-mutilation ORPHA:412035
Glass Syndrome
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait OMIM:612313
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Gait imbalance, Ataxia, Hyperactivity, Broad-based gait ORPHA:98794
Legius Syndrome
Dystonia, Vestibular Schwannoma, Cognitive impairment, Hyperactivity, Attention deficit hyperacti... ORPHA:137605
Self-injurious behavior, Oromandibular dystonia, Apathy, Irritability, Anxiety, Hair-pulling, Lin... ORPHA:2388
Mucopolysaccharidosis Type 2
Optic atrophy, Abnormality of retinal pigmentation, Retinal degeneration, Aggressive behavior, Co... ORPHA:580
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Dysmetria, Aggressive behavior, Abnormality of the optic disc, Hyperacti... ORPHA:96121
Mucopolysaccharidosis Type 3
Gait disturbance, Dementia, Optic atrophy, Retinal degeneration, Loss of ambulation, Aggressive b... ORPHA:581
Wiedemann-Steiner Syndrome
Aggressive behavior, Hyperactivity, Low frustration tolerance, Psychomotor deterioration, Anxiety ORPHA:319182
Tuberous Sclerosis Complex
Self-injurious behavior, Aggressive behavior, Hyperactivity, Chorioretinal hypopigmentation, Reti... ORPHA:805
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Dystonia, Violent behavior, Chorioretinal coloboma, Torticollis, Suicidal ideation, Cognitive imp... OMIM:619475
Hyperactivity, Spastic gait, Irritability OMIM:207800
Mend Syndrome
Abnormal social behavior, Hyperactivity, Aggressive behavior, Abnormal auditory evoked potentials ORPHA:401973
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait OMIM:614756
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... ORPHA:353281
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Highly arched eyebrow, Absent nipple, Hypoplastic nipples, Cryptorchidism OMIM:616001
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Hyperactivity ORPHA:2157
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Self-mutilation, Abnormality of the autonom... ORPHA:642
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability ORPHA:447997
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424


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 Ptprf

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 Ptprf.

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

Title Journal IMPC Allele PubMed ID
Intact synapse structure and function after combined knockout of PTPδ, PTPσ, and LAR. eLife (March 2021) Ptprftm1a(EUCOMM)Wtsi PMC7963474

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MGI Allele Allele Type Produced
Ptprftm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ptprftm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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