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 4.66×10-06
increased exploration in new environment Ptprkem1(IMPC)J HOM Early adult 9.11×10-05
abnormal coat/hair pigmentation Ptprkem1(IMPC)J HOM Late adult 9.52×10-05
hyperactivity Ptprkem1(IMPC)J HOM Early adult 1.55×10-13

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 Dorso Ventral

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Auditory Brain Stem Response

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

7 Images

Electrocardiogram (ECG)

Waveform Image

12 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
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Ringed Hair
Abnormal hair morphology OMIM:180600
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Depression, Attention deficit hyperactivity disorder OMIM:613003
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short attention span DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Short attention span OMIM:608443
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
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
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
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
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Cataract 42
Cataract, Developmental cataract OMIM:115900
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
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
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Trichomegaly
Cataract OMIM:190330
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Nathalie Syndrome
Cataract ORPHA:2663
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Emotional lability, Developmental cataract, Dysphagia, Dementia OMIM:607674
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Woolly Hair, Autosomal Recessive 3
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair OMIM:616760
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi, Brittle hair OMIM:617252
Morm Syndrome
Cataract, Hyperactivity, Aggressive behavior ORPHA:75858
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Uncombable Hair Syndrome 1
Uncombable hair, Pili canaliculi, Dry hair OMIM:191480
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity OMIM:620448
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Hyperactivity, Compulsive behaviors, Motor tics, Attention deficit hyperactivity dis... OMIM:619927
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Phenylketonuria
Irritability, Depression, Hyperactivity, Compulsive behaviors, Cataract, Attention deficit hypera... OMIM:261600
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Glycine Encephalopathy 1
Irritability, Hyperactivity, Impulsivity, Restlessness, Aggressive behavior OMIM:605899
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Hartnup Disorder
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hyperactivity ORPHA:85288
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... ORPHA:79414
Galactosemia Ii
Cataract OMIM:230200
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Depression, Cognitive impairment, Dysphagia, Dementia, Cataract ORPHA:329314
Galactosemia Iv
Cataract OMIM:618881
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Memory impairment OMIM:620312
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Cataract 47
Cataract, Microcornea OMIM:612018
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Premature graying of hair OMIM:616371
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Diminished ability to concentrate, Blue irides, Self-muti... OMIM:615516
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:277580
Cataract 3, Multiple Types
Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract OMIM:601547
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myopic astigmatism, Hyperactivity, Impulsivity, Frequent temper tantrums, Developmental cataract,... OMIM:620141
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Nathalie Syndrome
Cataract OMIM:255990
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Albinism-Deafness Syndrome
Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism OMIM:300700
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Classic Phenylketonuria
Memory impairment, Depression, Motor deterioration, Cataract, Attention deficit hyperactivity dis... ORPHA:79254
Landau-Kleffner Syndrome
Aggressive behavior, Memory impairment, Depression, Emotional lability, Hyperactivity, Short atte... ORPHA:98818
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... ORPHA:33445
Lennox-Gastaut Syndrome
Hyperactivity, Irritability, Mental deterioration, Aggressive behavior ORPHA:2382
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Memory impairment, Hyperactivity, Attention deficit hyperact... OMIM:619827
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Obesity And Hypopigmentation
Red hair OMIM:620195
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom... ORPHA:998
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ... ORPHA:3437
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Proximal Myotonic Myopathy
Cataract ORPHA:606
Usher Syndrome Type 3
Depression, Iris hypopigmentation, Astigmatism, Cataract ORPHA:231183
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Short attention span, Iris hypopigmentation, Inappropriate laughter ORPHA:411515
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Griscelli Syndrome Type 1
Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism ORPHA:79476
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae, Cognitive impairment ORPHA:1885
Norrie Disease
Buphthalmos, Dementia, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukoco... OMIM:310600
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... ORPHA:3077
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Hyperlysinemia, Type I
Hyperactivity, Ectopia lentis, Short attention span, Cognitive impairment OMIM:238700
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:614072
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Isolated Aniridia
Cataract, Peters anomaly, Aniridia ORPHA:250923
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Cataract 20, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract OMIM:116100
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Aniridia 3
Cataract, Aniridia OMIM:617142
Cataract 30, Multiple Types
Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract OMIM:116300
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair ORPHA:2221
Oculocutaneous Albinism Type 1
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... ORPHA:352731
Insensitivity To Pain, Congenital, With Anhidrosis
Recurrent corneal erosions, Corneal ulceration, Emotional lability, Hyperactivity, Corneal scarri... OMIM:256800
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Cataract 18
Nuclear cataract OMIM:610019
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Hyperactivity, Aggressive behavior OMIM:301013
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Hyperactivity, Short attention span, Dysphoria, Motor stereotypy, Attention deficit h... OMIM:620242
Cataract 15, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Wagro Syndrome
Agitation, Aniridia, Emotional lability, Low frustration tolerance, Corneal opacity, Compulsive b... OMIM:612469
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... ORPHA:999
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Irritability, Abnormal temper tantrums, Depression, Hyperactivity, Recurrent hand flapping, Short... ORPHA:449291
Griscelli Syndrome Type 2
Premature graying of hair, Partial albinism, Iris hypopigmentation, Hypopigmentation of hair ORPHA:79477
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Dysphagia, Mental deterioration OMIM:619780
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... OMIM:203100
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613266
Hypoparathyroidism, Familial Isolated, 1
Cataract, Irritability OMIM:146200
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Progressive language deterioration, Motor stereotypy, Attention deficit hyperactiv... OMIM:610042
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Lens subluxation, Cataract ORPHA:171844
X-Linked Adrenoleukodystrophy
Hyperactivity, Cognitive impairment, Disinhibition, Dementia, Attention deficit hyperactivity dis... ORPHA:43
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Ataxia-Telangiectasia
Premature graying of hair, Multiple cafe-au-lait spots, Hypopigmentation of hair ORPHA:100
Carney Complex, Type 1
Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling OMIM:160980
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Red hair, Fair hair OMIM:614613
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F... OMIM:203300
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Transketolase Deficiency
Compulsive behaviors, Cataract, Motor stereotypy, Conjunctivitis, Attention deficit hyperactivity... ORPHA:488618
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... ORPHA:3214
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:618541
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair ORPHA:53271
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria... OMIM:221900
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Waardenburg Syndrome, Type 2E
Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, White forelock, Cafe... OMIM:611584
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Generalized hyperpigmentation, Gene... ORPHA:3322
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul... OMIM:106210
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... ORPHA:238468
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411511
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Histidinemia
Hyperactivity ORPHA:2157
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen... ORPHA:91495
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Giant melanosomes in me... OMIM:214500
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98794
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Long eyelashes, Iris hypopigmentation, Me... ORPHA:79430
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Syndromic Diarrhea
Trichorrhexis nodosa, Hypopigmentation of hair, Brittle hair, Generalized hypopigmentation, Uncom... ORPHA:84064
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:163746
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Autosomal Recessive Faciodigitogenital Syndrome
Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak ORPHA:1974
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398079
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism ORPHA:2719
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate iris, Hypopigmentation of the s... ORPHA:177907
Ch├ędiak-Higashi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Large clumps of pigment irregularly distr... ORPHA:167
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177904
Vici Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Ocular albinism OMIM:242840
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177901
Prader-Willi Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:739
Degcags Syndrome
Premature graying of hair, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmentatio... OMIM:619488
Menkes Disease
Woolly hair, Hypopigmentation of hair, Sparse hair ORPHA:565
Smith-Lemli-Opitz Syndrome
Abnormal eyelash morphology, Hypopigmentation of hair ORPHA:818
Cystinosis, Nephropathic
Hypopigmentation of hair, Retinal pigment epithelial mottling, Hypopigmentation of the skin, Pigm... OMIM:219800

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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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

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