Gene Summary

Name:
protein tyrosine phosphatase, receptor type, K
Synonyms:
RPTPkappa,  PTPk

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
cataract Ptprkem1(IMPC)J HOM Early adult 1.94×10-05
hyperactivity Ptprkem1(IMPC)J HOM Early adult 2.11×10-13

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.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Auditory Brain Stem Response

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

7 Images

Human diseases caused by Ptprk 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 Ptprk by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Cataract 29
Cataract OMIM:115800
Schizophrenia 15
Hyperactivity OMIM:613950
Cataract 35
Cataract OMIM:609376
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cataract ORPHA:1397
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Limb ataxia, Cataract OMIM:617133
Aniridia 3
Cataract OMIM:617142
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Trichomegaly
Cataract OMIM:190330
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy, Spastic ataxia OMIM:271320
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Dysequilibrium Syndrome
Gait disturbance, Ataxia, Cataract ORPHA:1766
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Nathalie Syndrome
Cataract ORPHA:2663
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Galactosemia Iv
Cataract OMIM:618881
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Spastic Paraparesis-Deafness Syndrome
Gait disturbance, Ataxia, Cataract ORPHA:2815
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
X-Linked Retinoschisis
Cataract ORPHA:792
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 47
Microcornea, Cataract OMIM:612018
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Galactosemia Ii
Cataract OMIM:230200
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Aniridia 2
Aniridia, Cataract OMIM:617141
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Pellagra-Like Syndrome
Ataxia, Cataract OMIM:260650
Morm Syndrome
Hyperactivity, Cataract ORPHA:75858
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract ORPHA:85288
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cataract ORPHA:3233
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Hyperlysinemia, Type I
Hyperactivity, Ectopia lentis OMIM:238700
Proximal Myotonic Myopathy
Cataract ORPHA:606
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Cataract 43
Subcapsular cataract OMIM:616279
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Nathalie Syndrome
Cataract OMIM:255990
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus OMIM:614303
Cataract 11, Multiple Types
Cataract OMIM:610623
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Cataract OMIM:278780
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Coats Disease
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysmetria, Dysdiadochokinesis, Truncal ataxia, Broad-based gait, Cataract, Gait ataxia OMIM:224050
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Hyperactivity OMIM:248510
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Retinitis Pigmentosa 84
Cataract OMIM:618220
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Gait disturbance, Cataract ORPHA:1875
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... ORPHA:248111
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia OMIM:615924
Phenylketonuria
Blue irides, Hyperactivity, Attention deficit hyperactivity disorder, Cataract OMIM:261600
Spastic Paraplegia 26, Autosomal Recessive
Dystonia, Dysmetria, Spastic gait, Ataxia, Tip-toe gait, Cataract, Difficulty walking OMIM:609195
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Cataract 33, Multiple Types
Nuclear cataract, Lamellar cataract, Cortical cataract OMIM:611391
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Usher Syndrome Type 3
Ataxia, Iris hypopigmentation, Astigmatism, Cataract ORPHA:231183
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Congenital Varicella Syndrome
Cataract ORPHA:291
Retinitis Pigmentosa 4
Cataract OMIM:613731
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Peroxisome Biogenesis Disorder 9B
Ataxia, Cataract OMIM:614879
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia OMIM:300983
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Cataract, Posterior embryotoxon, Iris coloboma ORPHA:1473
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract OMIM:120433
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Iris hypopigmentation, Broad-based gait ORPHA:411515
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Developmental cataract, Cataract OMIM:614482
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait OMIM:619470
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Dysmetria, Progressive gait ataxia, Tortuosity of conjunctival vessels, Progressive cerebellar at... ORPHA:284289
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Dystonia, Juvenile-Onset
Cataract, Generalized dystonia OMIM:607371
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Blue irides OMIM:615516
Retinitis Pigmentosa 2
Cataract OMIM:312600
Cataract 24
Anterior polar cataract OMIM:601202
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia OMIM:609425
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia OMIM:612716
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Hyperopic astigmatism ORPHA:397973
Norrie Disease
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris OMIM:310600
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Cataract, Lens subluxation ORPHA:171844
Mend Syndrome
Hyperactivity, Cataract OMIM:300960
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Gand Syndrome
Hyperactivity OMIM:615074
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Keratitis, Hyperactivity, Corneal ulceration, Opacification of the corneal stro... OMIM:256800
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:98818
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... ORPHA:228360
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
Histidinemia
Hyperactivity ORPHA:2157
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait ORPHA:457260
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk OMIM:618718
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Inability to walk, Gait ataxia ORPHA:500180
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Broad-based gait ORPHA:3077
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... OMIM:221900
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia OMIM:271980
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Gait ataxia, Ataxia, Limb dystonia ORPHA:363400
Rasmussen Subacute Encephalitis
Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk ORPHA:1929
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Cahmr Syndrome
Lamellar cataract OMIM:211770
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Hyperactivity OMIM:614613
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Broad-based gait OMIM:300958
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Fragile X Syndrome
Hyperactivity OMIM:300624
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Myoclonic-Astatic Epilepsy
Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia ORPHA:1942
Xeroderma Pigmentosum, Complementation Group D
Keratoconjunctivitis sicca, Keratitis, Ataxia, Cataract, Corneal neovascularization, Conjunctivitis OMIM:278730
X-Linked Creatine Transporter Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:52503
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Opacification of the corneal stroma, Ataxia OMIM:601853
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Hyperactivity, Inability to walk, Ataxia, Astigmatism ORPHA:168491
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait ORPHA:35069
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... ORPHA:91495
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Ataxia, Hyperactivity, Iris hypopigmentation, Broad-based gait ORPHA:98794
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... OMIM:612109
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia OMIM:610217
Angelman Syndrome
Blue irides, Hyperactivity, Progressive gait ataxia, Broad-based gait OMIM:105830
Autosomal Dominant Optic Atrophy And Cataract
Cerulean cataract, Posterior subcapsular cataract, Anterior subcapsular cataract, Ataxia, Posteri... ORPHA:67036
X-Linked Adrenoleukodystrophy
Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder ORPHA:43
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia OMIM:610042
Legius Syndrome
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder, Cataract ORPHA:137605
Angelman Syndrome
Hyperactivity, Inability to walk, Ataxia, Iris hypopigmentation, Broad-based gait, Astigmatism, K... ORPHA:72
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking ORPHA:139396
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Oculoectodermal Syndrome
Limbal dermoid, Astigmatism, Hyperactivity, Opacification of the corneal stroma, Microcornea OMIM:600268
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder ORPHA:8
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Ataxia ORPHA:760
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Blepharospasm OMIM:234200
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Argininemia
Hyperactivity, Spastic gait OMIM:207800
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hyperactivity, Unsteady gait, Ataxia OMIM:614756
Hereditary Sensory And Autonomic Neuropathy Type 4
Corneal scarring, Hyperactivity, Corneal ulceration, Difficulty walking, Decreased corneal reflex ORPHA:642

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 Ptprk

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 Ptprk.

No publications found that use IMPC mice or data for Ptprk.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ptprkem1(IMPC)J Exon Deletion Mice

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