Gene Summary

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

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
increased exploration in new environment Ppfia3em1(IMPC)J HOM   Early adult 5.00×10-05
increased vertical activity Ppfia3em1(IMPC)J HOM Early adult 3.04×10-10
hyperactivity Ppfia3em1(IMPC)J HOM   Early adult 9.97×10-32
irregularly shaped pupil Ppfia3em1(IMPC)J HOM Early adult 5.54×10-06
abnormal vocalization Ppfia3em1(IMPC)J HOM Early adult 4.94×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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.

X-ray

XRay Images Whole Body Lateral Orientation

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

2 Images

Eye Morphology

Images Slit Lamp

3 Images

X-ray

XRay Images Forepaw

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

2 Images

X-ray

XRay Images Skull Lateral Orientation

2 Images

Auditory Brain Stem Response

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

8 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
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hyperlysinemia, Type I
Hyperactivity, Ectopia lentis, Cognitive impairment OMIM:238700
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Anxiety, Attention deficit hyperac... ORPHA:280397
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language
Inability to walk, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:620038
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Immunodeficiency 8
Hyperactivity OMIM:615401
Intellectual Developmental Disorder, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
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 Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Gilles De La Tourette Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Self-mutilation OMIM:137580
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Anterior Segment Dysgenesis 3
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... OMIM:601631
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
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Morm Syndrome
Aggressive behavior, Hyperactivity, Cataract ORPHA:75858
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Mental deterioration, Anxiety, Difficulty walking, Attention deficit hyperacti... OMIM:619191
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Iridocorneal Endothelial Syndrome
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... ORPHA:64734
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Alexander Disease
Ataxia, Microcoria, Apathy, Dysmetria OMIM:203450
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity OMIM:619970
Phenylketonuria
Hyperactivity, Blue irides, Self-mutilation, Anxiety, Attention deficit hyperactivity disorder, C... OMIM:261600
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Hyperactivity, Aggressive behavior OMIM:248510
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract ORPHA:85288
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Hyperprolinemia, Type I
Ataxia, Hyperactivity, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Inability to walk, Hyperactivity, Dysmetria OMIM:618090
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior OMIM:604317
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Blue irides, Self-mutilation, Aggressive behavior, Unsteady gait OMIM:615516
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis, Cognitive impairment ORPHA:1885
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Irritability OMIM:605899
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Aggressive behavior, Falls ORPHA:2382
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior OMIM:309548
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Ataxia, Hyperactivity OMIM:615924
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior ORPHA:100973
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity OMIM:617113
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior ORPHA:382
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Aggressive behavior OMIM:619470
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Astigmatism OMIM:619927
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Happy demeanor, Ataxia, Hyperactivity, Iris hypopigmentation ORPHA:411515
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Gait ataxia, Irritability... ORPHA:248111
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity, Aggressive behavior OMIM:300983
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Anxiety, Aggressive behavior OMIM:609425
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism ORPHA:54
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Landau-Kleffner Syndrome
Social and occupational deterioration, Hyperactivity, Anxiety, Memory impairment, Gait ataxia, At... ORPHA:98818
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
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Shuffling gait, Aggressi... ORPHA:3077
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Choreoathetosis, Hyperactivity, Aggressive behavior OMIM:612716
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Progressive cerebellar ataxia, Limb ataxia, Truncal ataxia, Mydriasis, Progressive gait ataxia ORPHA:247815
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Uveitis, Cata... OMIM:221900
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Facial Spasm
Anisocoria OMIM:134300
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:271980
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior OMIM:301013
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Short Syndrome
Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Megalocornea, P... ORPHA:3163
Cln5 Disease
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Mental deterioration, Dysdiadochokinesis, An... ORPHA:228360
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619467
Uveal Melanoma
Inferior lens subluxation, Iris melanoma, Zonular cataract, Ciliary body melanoma, Mydriasis ORPHA:39044
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Phacoanaphylactic Uveitis
Keratitis, Pseudophakia, Hypopyon, Panuveitis, Abnormal pupil morphology, Corneal stromal edema, ... ORPHA:209959
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Happy demeanor, Hyperactivity, Unsteady gait OMIM:617865
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity, Aggressive behavior ORPHA:457260
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Hyperactivity OMIM:618718
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Chorioretinal ... OMIM:106210
Triopia
Iris coloboma, Abnormal pupil morphology, Microcornea ORPHA:3374
Charcot-Marie-Tooth Disease Type 1E
Gait imbalance, Inability to walk, Abnormal pupil morphology, Anisocoria, Gait disturbance, Diffi... ORPHA:90658
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria, Aggressive behavior ORPHA:289483
Rasmussen Subacute Encephalitis
Inability to walk, Hyperactivity, Cognitive impairment, Memory impairment, Attention deficit hype... ORPHA:1929
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Aggressive behavior ORPHA:101039
Coats Disease
Leukocoria OMIM:300216
Familial Dysautonomia
Corneal opacity, Ataxia, Abnormal pupil morphology, Gait disturbance, Corneal erosion, Heterochro... ORPHA:1764
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Inability to walk, Hyperactivity, Mental deterioration, Anxiety, Astigmatism, Gait distur... ORPHA:168491
Axenfeld-Rieger Syndrome, Type 3
Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Posterior ... OMIM:602482
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal ulceration, Corneal scarring, Hyperactivity, Self-mutilation, Recurrent cornea... OMIM:256800
Distal Monosomy 6P
Corneal opacity, Self-injurious behavior, Abnormal anterior chamber morphology, Ectopia pupillae,... ORPHA:96125
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Posterior embry... OMIM:180500
Revesz Syndrome
Ataxia, Megalocornea, Progressive neurologic deterioration, Leukocoria OMIM:268130
Superficial Siderosis
Ataxia, Dysmetria, Limb ataxia, Cognitive impairment, Dysdiadochokinesis, Anisocoria, Memory impa... ORPHA:247245
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... ORPHA:91495
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Proteus-Like Syndrome
Limbal dermoid, Cataract, Abnormal pupil morphology, Heterochromia iridis ORPHA:2969
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, Aggressive behavior, Gait ataxia ORPHA:500180
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity, Aggressive behavior, Progressive language deterioration OMIM:610042
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Duane Retraction Syndrome
Hypoplastic iris stroma, Abnormal pupil morphology, Microcornea, Iris coloboma, Central heterochr... ORPHA:233
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
X-Linked Adrenoleukodystrophy
Hyperactivity, Cognitive impairment, Gait disturbance, Attention deficit hyperactivity disorder, ... ORPHA:43
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Norrie Disease
Corneal opacity, Abnormal pupil morphology, Self-injurious behavior, Irritability, Anterior chamb... ORPHA:649
Trichinellosis
Apathy, Anisocoria, Memory impairment, Abnormal uvea morphology, Conjunctivitis, Irritability, Co... ORPHA:863
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Hyperactivity, Progressive language deterioration, Self-mutilation, Mental deterioration,... ORPHA:163681
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:391307
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration OMIM:252920
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Persistent pupillary membrane OMIM:257850
Achalasia-Addisonianism-Alacrima Syndrome
Ataxia, Anisocoria OMIM:231550
Adenylosuccinase Deficiency
Happy demeanor, Inability to walk, Hyperactivity, Self-mutilation, Gait ataxia, Aggressive behavior OMIM:103050
Serotonin Syndrome
Mental deterioration, Anxiety, Irritability, Mydriasis ORPHA:43116
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Broad-based gait, Ataxia, Happy demeanor, Hyperactivity, Iris hypopigmentation ORPHA:98794
Intellectual Developmental Disorder, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity OMIM:617600
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Arachnoid Cyst
Social and occupational deterioration, Inability to walk, Memory impairment, Mydriasis, Gait dist... ORPHA:2356
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Cataract, Astigmatism OMIM:618727
X-Linked Creatine Transporter Deficiency
Self-mutilation, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Intestinal Botulism
Mydriasis ORPHA:178481
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
Oculocerebrorenal Syndrome Of Lowe
Corneal opacity, Abnormal pupil morphology, Self-injurious behavior, Buphthalmos, Anxiety, Attent... ORPHA:534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Peters anomaly, Cataract, Persistent pupillary membrane OMIM:613150
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggres... ORPHA:449291
Iatrogenic Botulism
Mydriasis ORPHA:254509
Wound Botulism
Mydriasis ORPHA:178475
X-Linked Cerebral Adrenoleukodystrophy
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Mental deterioration, Memory impairment, Gai... ORPHA:139396
Knobloch Syndrome 1
Ataxia, Lens subluxation, Band keratopathy, Chorioretinal atrophy, Iris transillumination defect,... OMIM:267750
Histidinemia
Hyperactivity ORPHA:2157
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Nephronophthisis 11
Anisocoria OMIM:613550
Pierson Syndrome
Uveal ectropion, Posterior lenticonus, Rieger anomaly, Cataract, Hypoplasia of the iris, Hypoplas... OMIM:609049
Charcot-Marie-Tooth Disease Type 4C
Difficulty walking, Inability to walk, Anisocoria, Gait ataxia ORPHA:99949
Inhalational Botulism
Mydriasis ORPHA:254504
Alacrima, Achalasia, And Mental Retardation Syndrome
Ataxia, Anisocoria OMIM:615510
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity, Emotional lability OMIM:620047
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Dysmetria, Mental deterioration, Dysdiadochokinesis, Gait ataxia, Emotional lability OMIM:610217
Alternating Hemiplegia Of Childhood
Ataxia, Progressive neurologic deterioration, Mydriasis, Choreoathetosis, Aggressive behavior, Em... ORPHA:2131
Botulism
Mydriasis ORPHA:1267
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria ORPHA:2714
Foodborne Botulism
Mydriasis ORPHA:228371
Bickerstaff Brainstem Encephalitis
Ataxia, Anisocoria, Mydriasis ORPHA:79138
Cutis Marmorata Telangiectatica Congenita
Cognitive impairment, Leukocoria ORPHA:1556
Infant Botulism
Keratoconjunctivitis sicca, Mydriasis ORPHA:178478
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae OMIM:618223
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Anisocoria OMIM:618653
Witteveen-Kolk Syndrome
Conspicuously happy disposition, Hyperactivity, Anisocoria, Anxiety, Iris coloboma, Attention def... OMIM:613406
Legius Syndrome
Attention deficit hyperactivity disorder, Hyperactivity, Cataract, Cognitive impairment ORPHA:137605
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Corneal neovascularization, Ectopia pupillae, Microcornea, Astigmatis... OMIM:175780
Retinoblastoma
Hypopyon, Uveitis, Heterochromia iridis, Leukocoria ORPHA:790
Argininemia
Spastic gait, Hyperactivity, Irritability OMIM:207800
Osteopetrosis, Autosomal Recessive 5
Irritability, Mydriasis OMIM:259720
Pituitary Apoplexy
Mydriasis ORPHA:95613
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Happy demeanor, Inability to walk, Abnormal pupil morphology, Axenfeld anomaly,... ORPHA:261552
Mowat-Wilson Syndrome
Happy demeanor, Ectopia pupillae, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma OMIM:235730
Retinoblastoma
Leukocoria OMIM:180200
Neurodegeneration With Brain Iron Accumulation 1
Akinesia, Ataxia, Hyperactivity, Mental deterioration, Gait disturbance, Choreoathetosis, Dementia OMIM:234200
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Iris coloboma, Rieger anomaly OMIM:194190
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Cocaine Intoxication
Mydriasis ORPHA:90068
Scorpion Envenomation
Ataxia, Mydriasis ORPHA:466677
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal pupil morphology, Cognitive impairment ORPHA:286
Plague
Mydriasis, Anxiety, Unsteady gait, Conjunctival hyperemia ORPHA:707
Sponastrime Dysplasia
Congenital aphakia, Microcoria, Cataract ORPHA:93357
Craniotubular Dysplasia, Ikegawa Type
Mydriasis OMIM:619727

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 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) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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