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Gene: Ptprz1 MGI:97816

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Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

Name:
protein tyrosine phosphatase receptor type Z, polypeptide 1
Synonyms:
PTPzeta,  Rptpbeta,  Ptprz,  Ptpz,  phosphacan,  RPTPz,  DSD-1-PG,  PTPbeta

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IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Ptprz1 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 Ptprz1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma
Chondrosarcoma OMIM:215300
Exostoses, Multiple, Type Iii
Multiple exostoses OMIM:600209
Exostoses Of Heel
Exostoses OMIM:133600
Enchondromatosis, Multiple, Ollier Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:166000
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
7q11.23 duplication syndrome
Short attention span DECIPHER:43
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Multiple Enchondromatosis, Maffucci Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:614569
Chordoma, Susceptibility To
Chordoma, Astrocytoma OMIM:215400
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Oslam Syndrome
Neoplasm, Osteosarcoma OMIM:165660
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Osteosarcoma OMIM:260500
Oslam Syndrome
Osteosarcoma ORPHA:2760
Paget Disease Of Bone 3
Osteosarcoma OMIM:167250
Exostoses, Multiple, Type Ii
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133700
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Premature Aging Syndrome, Okamoto Type
Neoplasm, Osteosarcoma OMIM:601811
Systemic Lupus Erythematosus 16
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... OMIM:614420
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Oncogenic Osteomalacia
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... ORPHA:352540
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, CNS demyelination, Abnormal oligodendroglia morphology ORPHA:217260
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Histiocytoma, Osteosarcoma OMIM:112250
Pelizaeus-Merzbacher Disease
Reduction of oligodendroglia, Cerebral dysmyelination, Sudanophilic leukodystrophy, CNS hypomyeli... OMIM:312080
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... ORPHA:790
Developmental And Epileptic Encephalopathy 71
CNS demyelination, Gliosis OMIM:618328
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Complex Regional Pain Syndrome
Dysesthesia, Somatic sensory dysfunction, Trophic changes related to pain, Allodynia ORPHA:83452
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma ORPHA:296
Werner Syndrome
Meningioma, Osteosarcoma OMIM:277700
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination ORPHA:431329
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Rothmund-Thomson Syndrome Type 1
Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplasm of the skin, Le... ORPHA:221008
Rothmund-Thomson Syndrome Type 2
Myelodysplasia, Lymphoma, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplasm of th... ORPHA:221016
Diamond-Blackfan Anemia 21
Osteosarcoma OMIM:620072
Baller-Gerold Syndrome
Lymphoma, Osteosarcoma ORPHA:1225
Fibrous Dysplasia Of Bone
Testicular neoplasm, Cutaneous myxoma, Thyroid carcinoma, Neoplasm of the breast, Osteosarcoma ORPHA:249
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination ORPHA:401820
Developmental And Epileptic Encephalopathy 14
Delayed CNS myelination, Gliosis OMIM:614959
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Osteochondroma, B-cell lymphoma, Burkitt lymphoma OMIM:620232
L-2-Hydroxyglutaric Aciduria
Gliosis, Severe demyelination of the white matter OMIM:236792
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Rothmund-Thomson Syndrome, Type 2
Basal cell carcinoma, Osteosarcoma, Squamous cell carcinoma OMIM:268400
Trigeminal Neuralgia
Somatic sensory dysfunction, Paresthesia, Allodynia ORPHA:221091
Anterior Cutaneous Nerve Entrapment Syndrome
Impaired tactile sensation, Somatic sensory dysfunction, Allodynia, Hyperesthesia ORPHA:51890
Diamond-Blackfan Anemia
Acute myeloid leukemia, Myelodysplasia, Adenocarcinoma of the colon, Malignant genitourinary trac... ORPHA:124
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
Atypical Werner Syndrome
Renal neoplasm, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the breast, Neoplasm of the s... ORPHA:79474
Diamond-Blackfan Anemia 1
Basal cell carcinoma, Myelodysplasia, Osteosarcoma OMIM:105650
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Gliosis OMIM:604484
Leukoencephalopathy With Vanishing White Matter 1
Cerebral hypomyelination, CNS demyelination, Gliosis OMIM:603896
Pemphigus Erythematosus
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... ORPHA:79480
Microcephaly 10, Primary, Autosomal Recessive
Delayed CNS myelination, Gliosis OMIM:615095
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination ORPHA:352682
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis OMIM:300857
Neurotrophic Keratopathy
Allodynia, Hyperesthesia ORPHA:137596
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Gliosis, Symmetric peripheral demyelination, Leukodystrophy OMIM:169500
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity ORPHA:231154
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis OMIM:270150
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Gliosis, Abnormal myelination ORPHA:280210
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Osteochondroma OMIM:610474
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Abnormal myelination ORPHA:289266
Czech Dysplasia
Osteochondroma OMIM:609162
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Hypoesthesia, Dementia, Allodynia, Distal sensory impairment OMIM:603041
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Multiple Osteochondromas
Osteochondroma, Chondrosarcoma, Rib exostoses, Scapular exostoses ORPHA:321
Tolchin-Le Caignec Syndrome
Osteochondroma, Cardiac rhabdomyoma OMIM:618971
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormal myelination ORPHA:442835
Trichorhinophalangeal Syndrome, Type Ii
Osteochondroma, Osteoma, Rib exostoses, Scapular exostoses, Multiple long-bone exostoses OMIM:150230
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Benign Schwannoma
Allodynia ORPHA:252164
Monosomy 18Q
Astrocytoma, Abnormal myelination ORPHA:1600
Pallister-Hall Syndrome
Osteochondroma, Hypothalamic hamartoma, Midline facial capillary hemangioma ORPHA:672
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Astrocytosis, Abnormal myelination ORPHA:309854
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Mixed demyelinating and axonal polyneuropathy, Abnormal peripheral myelination, Abnormal myelination ORPHA:466768
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Delayed myelination, Gliosis, Abnormal myelination ORPHA:404454
Cockayne Syndrome Type 3
Astrocytosis, Demyelinating peripheral neuropathy, Abnormal myelination ORPHA:90324
Degcags Syndrome
Abnormal myelination OMIM:619488
Orofaciodigital Syndrome Type 14
Abnormal myelination ORPHA:434179

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 Ptprz1

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 Ptprz1.

No publications found that use IMPC mice or data for Ptprz1.

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MGI Allele Allele Type Produced
Ptprz1em1(IMPC)Ccpcz Exon Deletion Mice
Ptprz1tm96469(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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