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Gene: Ppfia3 MGI:1924037

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
hyperactivity Ppfia3em1(IMPC)J HOM   Early adult 8.55×10-32
increased vertical activity Ppfia3em1(IMPC)J HOM Early adult 2.79×10-10
abnormal vocalization Ppfia3em1(IMPC)J HOM Early adult 4.94×10-05
irregularly shaped pupil Ppfia3em1(IMPC)J HOM Early adult 8.90×10-06

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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.

Eye Morphology

Images Slit Lamp

3 Images

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X-ray

XRay Images Skull Lateral Orientation

2 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

2 Images

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X-ray

XRay Images Forepaw

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

2 Images

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Auditory Brain Stem Response

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

8 Images

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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, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment, Ectopia lentis OMIM:238700
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Chorioretinal coloboma OMIM:616428
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... OMIM:619927
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Phenylketonuria
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Depression, Irritability, Attention de... OMIM:261600
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Diminished ability to concentrate... OMIM:615516
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Norrie Disease
Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ... OMIM:310600
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior OMIM:248510
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract ORPHA:85288
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia... ORPHA:411515
Landau-Kleffner Syndrome
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Depression, M... ORPHA:98818
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Morm Syndrome
Hyperactivity, Cataract, Aggressive behavior ORPHA:75858
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Cognitive impairment, Ectopia lentis ORPHA:1885
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Progressive cerebellar ataxia, ... ORPHA:248111
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria, Dysphagia OMIM:300858
Alexander Disease
Microcoria, Ataxia, Dysmetria OMIM:203450
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity, Ataxia OMIM:615924
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior OMIM:619470
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... OMIM:620141
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation ORPHA:54
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior ORPHA:382
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria, Dysphagia, Aggressive behavior ORPHA:289483
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors OMIM:619467
Facial Spasm
Anisocoria OMIM:134300
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... OMIM:221900
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Truncal ataxia, Mydriasis ORPHA:247815
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... ORPHA:228360
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Phacoanaphylactic Uveitis
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... ORPHA:209959
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Uveal Melanoma
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis ORPHA:39044
Serotonin Syndrome
Restlessness, Confusion, Irritability, Agitation, Mental deterioration, Delirium, Mydriasis ORPHA:43116
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Charcot-Marie-Tooth Disease Type 1E
Inability to walk, Abnormal pupil morphology, Anisocoria, Steppage gait, Gait disturbance, Gait i... ORPHA:90658
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Intestinal Botulism
Mydriasis, Dysphagia ORPHA:178481
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Self-injurious behavior, Ectopia ... ORPHA:96125
Toxin-Mediated Infectious Botulism
Mydriasis, Dysphagia ORPHA:230800
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... OMIM:620242
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Motor deterioration, Astigmatism, ... ORPHA:168491
Miller Fisher Syndrome
Anisocoria, Ataxia, Mydriasis, Dysphagia ORPHA:98919
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue t... ORPHA:98794
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... OMIM:602482
Familial Dysautonomia
Ataxia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Gait disturbance, Heterochro... ORPHA:1764
Trichinellosis
Confusion, Anisocoria, Irritability, Abnormal uvea morphology, Conjunctivitis, Dysphagia, Memory ... ORPHA:863
Coats Disease
Leukocoria OMIM:300216
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn... OMIM:256800
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia OMIM:275000
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Ir... ORPHA:449291
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Gait disturbance, Attention deficit ... ORPHA:43
Superficial Siderosis
Ataxia, Unsteady gait, Limb ataxia, Dysmetria, Anisocoria, Progressive gait ataxia, Dysdiadochoki... ORPHA:247245
Iatrogenic Botulism
Mydriasis, Dysphagia ORPHA:254509
Wound Botulism
Mydriasis, Dysphagia ORPHA:178475
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Nephronophthisis 11
Anisocoria, Polydipsia OMIM:613550
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Mental deterioration, Low frustration tolerance, Abno... ORPHA:163681
Revesz Syndrome
Megalocornea, Ataxia, Leukocoria, Progressive neurologic deterioration OMIM:268130
Proteus-Like Syndrome
Limbal dermoid, Abnormal pupil morphology, Cataract, Heterochromia iridis ORPHA:2969
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... ORPHA:67043
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Arachnoid Cyst
Inability to walk, Depression, Social and occupational deterioration, Irritability, Gait disturba... ORPHA:2356
Duane Retraction Syndrome
Central heterochromia, Abnormal pupil morphology, Microcornea, Hypoplastic iris stroma, Chorioret... ORPHA:233
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
Infant Botulism
Keratoconjunctivitis sicca, Mydriasis, Anorexia, Dysphagia ORPHA:178478
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Norrie Disease
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... ORPHA:649
Botulism
Mydriasis, Dysphagia ORPHA:1267
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dys... OMIM:610217
Alternating Hemiplegia Of Childhood
Ataxia, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivity, Progressive neurol... ORPHA:2131
Foodborne Botulism
Mydriasis, Dysphagia ORPHA:228371
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
X-Linked Cerebral Adrenoleukodystrophy
Short attention span, Hyperactivity, Ataxia, Confusion, Inability to walk, Dysmetria, Gait distur... ORPHA:139396
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria, Ataxia, Dysphagia OMIM:615510
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria, Ataxia OMIM:231550
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Depression, Buphth... ORPHA:534
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae, Attention deficit hyperactivity disorder OMIM:618223
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Cataract, Persistent pupillary membrane OMIM:257850
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Cataract OMIM:618727
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane OMIM:613150
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Congenital Fibrosis Of Extraocular Muscles
Anisocoria, Abnormal pupil shape, Cataract ORPHA:45358
Bickerstaff Brainstem Encephalitis
Anisocoria, Ataxia, Confusion, Mydriasis ORPHA:79138
Charcot-Marie-Tooth Disease Type 4C
Anisocoria, Inability to walk, Difficulty walking, Gait ataxia ORPHA:99949
Knobloch Syndrome 1
Ataxia, Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination d... OMIM:267750
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria, Abnormal repetitive mannerisms, Difficulty walking OMIM:618653
Histidinemia
Hyperactivity ORPHA:2157
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... OMIM:609049
Inhalational Botulism
Mydriasis ORPHA:254504
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Dementia, Gait disturb... OMIM:234200
Argininemia
Irritability, Hyperactivity, Spastic gait, Anorexia OMIM:207800
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria ORPHA:2714
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Cognitive impairment ORPHA:1556
Scalp-Ear-Nipple Syndrome
Anisocoria, Cataract, Iris coloboma, Developmental cataract OMIM:181270
Pituitary Apoplexy
Confusion, Mydriasis ORPHA:95613
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... OMIM:175780
Cocaine Intoxication
Mania, Agitation, Delirium, Mydriasis ORPHA:90068
Osteopetrosis, Autosomal Recessive 5
Irritability, Mydriasis OMIM:259720
Retinoblastoma
Hypopyon, Heterochromia iridis, Leukocoria, Uveitis ORPHA:790
Witteveen-Kolk Syndrome
Hyperactivity, Cataract, Aggressive behavior, Anisocoria, Attention deficit hyperactivity disorde... OMIM:613406
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Abnormal repetitive mannerisms, Rieger anomaly, Iris coloboma OMIM:194190
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Iris atrophy, Broad-based gait, Cataract, Inability to walk, Abnormal pupil morphology, Bruxism, ... ORPHA:261552
Retinoblastoma
Leukocoria OMIM:180200
Plague
Anorexia, Unsteady gait, Depression, Conjunctival hyperemia, Delirium, Mydriasis ORPHA:707
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
Scorpion Envenomation
Restlessness, Ataxia, Mydriasis ORPHA:466677
Mowat-Wilson Syndrome
Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris coloboma OMIM:235730
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal pupil morphology, Cognitive impairment ORPHA:286
Sponastrime Dysplasia
Microcoria, Cataract, Congenital aphakia 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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