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Gene: Ptprk MGI:103310

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Gene Summary

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

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
cataract Ptprkem1(IMPC)J HOM Early adult 1.88×10-05
hyperactivity Ptprkem1(IMPC)J HOM Early adult 1.53×10-13

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

Electrocardiogram (ECG)

Waveform Image

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

7 Images

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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
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Schizophrenia 15
Hyperactivity OMIM:613950
Cataract 35
Cataract OMIM:609376
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Cataract 45
Developmental cataract OMIM:616851
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 38
Developmental cataract OMIM:614691
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract 44
Developmental cataract OMIM:616509
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Corneal Dystrophy, Groenouw Type I
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy OMIM:121900
Cataract 42
Cataract, Developmental cataract OMIM:115900
Trichomegaly
Cataract OMIM:190330
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Nathalie Syndrome
Cataract ORPHA:2663
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Galactosemia Iv
Cataract OMIM:618881
Hyperlysinemia, Type I
Ectopia lentis, Hyperactivity OMIM:238700
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cataract 10, Multiple Types
Zonular cataract, Nuclear cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
X-Linked Retinoschisis
Cataract ORPHA:792
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Cataract 1, Multiple Types
Nuclear cataract, Pulverulent cataract, Microcornea, Posterior subcapsular cataract OMIM:116200
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Cataract 47
Cataract, Microcornea OMIM:612018
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Galactosemia Ii
Cataract OMIM:230200
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Cataract 9, Multiple Types
Cataract, Iris coloboma, Developmental cataract, Progressive cataract, Microcornea OMIM:604219
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Megalocornea
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... OMIM:309300
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Cataract 3, Multiple Types
Cerulean cataract, Sutural cataract, Developmental cataract, Nuclear pulverulent cataract OMIM:601547
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hyperactivity ORPHA:85288
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Proximal Myotonic Myopathy
Cataract ORPHA:606
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Cataract 20, Multiple Types
Membranous cataract, Cortical cataract, Sutural cataract, Lamellar cataract OMIM:116100
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Nathalie Syndrome
Cataract OMIM:255990
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Cataract 39, Multiple Types
Developmental cataract, Anterior polar cataract, Lamellar cataract OMIM:615188
Cataract 17, Multiple Types
Developmental cataract, Nuclear cataract, Pulverulent cataract, Microcornea OMIM:611544
Ectopia Lentis Et Pupillae
Cataract, Ectopia pupillae, Ectopia lentis, Persistent pupillary membrane, Iris transillumination... OMIM:225200
Morm Syndrome
Cataract, Hyperactivity ORPHA:75858
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... OMIM:269400
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Peters Anomaly
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... ORPHA:708
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Agitation OMIM:619970
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Cataract 2, Multiple Types
Nuclear pulverulent cataract, Aculeiform cataract, Developmental cataract, Nuclear cataract, Micr... OMIM:604307
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Cataract 41
Nuclear cataract OMIM:116400
Cataract 18
Nuclear cataract OMIM:610019
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris ORPHA:1067
Cataract 31, Multiple Types
Nuclear cataract, Anterior subcapsular cataract, Posterior subcapsular cataract OMIM:605387
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Anterior Segment Dysgenesis 1
Opacification of the corneal stroma, Posterior polar cataract, Microcornea, Peters anomaly, Ocula... OMIM:107250
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Cataract 15, Multiple Types
Nuclear cataract, Cortical cataract, Lamellar cataract OMIM:615274
Cataract 33, Multiple Types
Nuclear cataract, Cortical cataract, Lamellar cataract OMIM:611391
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Retinitis Pigmentosa 40
Cataract OMIM:613801
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Anterior Segment Dysgenesis 2
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Posterior synechiae of the anterio... OMIM:610256
Amoebic Keratitis
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... ORPHA:67043
Autosomal Dominant Keratitis
Cataract, Hypoplastic iris stroma, Limbal stem cell deficiency, Abnormal corneal limbus morpholog... ORPHA:2334
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Pellagra-Like Syndrome
Cataract OMIM:260650
Aniridia 3
Cataract, Aniridia OMIM:617142
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Phenylketonuria
Blue irides, Cataract, Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Edict Syndrome
Astigmatism, Anterior polar cataract, Hypoplasia of the iris, Keratoconus, Microcornea OMIM:614303
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Attention deficit hyperactivity disorder, Myopic astigmatism, Developmental catara... OMIM:620141
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Cataract 48
Cataract OMIM:618415
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Cataract 6, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:116600
Cataract 24
Anterior polar cataract OMIM:601202
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract, Lenticonus OMIM:613763
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal ulceration, Hyperactivity, Recurrent corneal erosions, Corneal scarring, Opacification of... OMIM:256800
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Norrie Disease
Cataract, Buphthalmos, Shallow anterior chamber, Hypoplasia of the iris, Corneal opacity, Opacifi... OMIM:310600
Histidinemia
Hyperactivity ORPHA:2157
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Iris coloboma, Buphthalmos OMIM:212550
Cahmr Syndrome
Lamellar cataract OMIM:211770
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Iris coloboma, Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Po... OMIM:221900
Aniridia 1
Cataract, Ectopia pupillae, Ectopia lentis, Corneal erosion, Anterior subcapsular cataract, Hypop... OMIM:106210
Persistent Hyperplastic Primary Vitreous
Cataract, Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Corneal opacity, ... ORPHA:91495
Oculoauricular Syndrome
Cataract, Iris cyst, Iris coloboma, Microphakia, Posterior synechiae of the anterior chamber, Scl... OMIM:612109

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.

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

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