Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
protein tyrosine phosphatase, receptor type, F
Synonyms:
LAR,  RPTP-LAR

IMPC Data Collections

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

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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Intellectual Developmental Disorder, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Immunodeficiency 8
Hyperactivity OMIM:615401
Morm Syndrome
Aggressive behavior, Hyperactivity, Retinal atrophy, Retinal dystrophy ORPHA:75858
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Hyperactivity, Aggressive behavior, Poor eye contact OMIM:300983
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity OMIM:619970
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity OMIM:300928
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Hyperactivity, Aggressive behavior OMIM:619470
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Aggressive behavior ORPHA:2382
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity OMIM:615924
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Memory impairment, Self-biting, Nail-biting, Attention de... OMIM:619827
Early-Onset Schizophrenia
Cognitive impairment, Abnormal emotion/affect behavior, Anxiety, No social interaction, Lack of p... ORPHA:96369
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Irritability OMIM:605899
Phenylketonuria
Hyperactivity, Self-mutilation, Anxiety, Attention deficit hyperactivity disorder, Aggressive beh... OMIM:261600
Landau-Kleffner Syndrome
Social and occupational deterioration, Hyperactivity, Anxiety, Memory impairment, Attention defic... ORPHA:98818
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Aggressive behavior, Abnormal social behavior ORPHA:101039
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Hyperactivity, Aggressive behavior, Progressive language deterioration OMIM:610042
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Poor eye contact, Progressive language deterioration, Self-mutilation, Mental dete... ORPHA:163681
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ... ORPHA:3077
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior OMIM:301013
Fragile X Syndrome
Hyperactivity, Self-biting, Poor eye contact OMIM:300624
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Poor eye contact, Self-injurious behavior, Anxiety, Attention deficit hyperactivit... ORPHA:449291
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Retinal degeneration, Mental deterioration, Anxiety, Motor deterioration, Aggressi... ORPHA:168491
X-Linked Adrenoleukodystrophy
Hyperactivity, Cognitive impairment, Attention deficit hyperactivity disorder, Aggressive behavio... ORPHA:43
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration OMIM:252920
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Abnormal autonomic nervous system physiology, Self-mutilation, Postural hypotensio... OMIM:256800
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Hyperactivity, Mental deterioration, Emotional lability OMIM:610217
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Retinal degeneration, Mental deterioration, Pigmentary retinopathy, Optic atrophy,... OMIM:234200
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Absent nipple, Cryptorchidism, Highly arched eyebrow, Hypoplastic nipples OMIM:616001
Histidinemia
Hyperactivity ORPHA:2157

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 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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