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

IMPC Data Collections

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

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.

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
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Lupus Erythematosus Tumidus
Anti-La/SS-B antibody positivity, Antinuclear antibody positivity, Autoimmune antibody positivity... ORPHA:90283
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Progressive Multifocal Leukoencephalopathy
Abnormal oligodendroglia morphology, Abnormal astrocyte morphology, CNS demyelination ORPHA:217260
C1Q Deficiency
Systemic lupus erythematosus, Autoimmunity OMIM:613652
Complement Component C1S Deficiency
Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
Pelizaeus-Merzbacher Disease
Cerebral dysmyelination, Sudanophilic leukodystrophy, Abnormal CNS myelination, Reduction of olig... OMIM:312080
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus OMIM:614420
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Complex Regional Pain Syndrome
Dysesthesia, Trophic changes related to pain, Allodynia, Somatic sensory dysfunction ORPHA:83452
Developmental And Epileptic Encephalopathy 14
Gliosis, Delayed myelination OMIM:614959
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus, Autoimmune thrombocytopenia ORPHA:444463
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination ORPHA:431329
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination ORPHA:401820
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Eosinophilopenia
Autoimmunity OMIM:131430
Microcephaly 10, Primary, Autosomal Recessive
CNS hypomyelination, Gliosis, Delayed myelination OMIM:615095
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Anterior Cutaneous Nerve Entrapment Syndrome
Somatic sensory dysfunction, Impaired tactile sensation, Allodynia, Hyperesthesia ORPHA:51890
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Abnormal myelination OMIM:618324
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Gliosis OMIM:604484
Trigeminal Neuralgia
Paresthesia, Somatic sensory dysfunction, Allodynia ORPHA:221091
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Leukoencephalopathy With Vanishing White Matter
Gliosis, Cerebral hypomyelination, CNS demyelination OMIM:603896
Pemphigus Erythematosus
Antinuclear antibody positivity, Systemic lupus erythematosus, Autoimmunity, Anti-acetylcholine r... ORPHA:79480
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination ORPHA:352682
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis OMIM:300857
L-2-Hydroxyglutaric Aciduria
Gliosis, Severe demyelination of the white matter OMIM:236792
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity ORPHA:231154
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Symmetric peripheral demyelination, Gliosis OMIM:169500
Neurotrophic Keratopathy
Allodynia, Hyperesthesia ORPHA:137596
Sjogren Syndrome
Rheumatoid arthritis, Autoimmunity OMIM:270150
Pelizaeus-Merzbacher Disease, Connatal Form
Abnormal myelination, Gliosis, Cerebral hypomyelination ORPHA:280210
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Abnormal myelination ORPHA:289266
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Hypoesthesia, Allodynia, Distal sensory impairment, Dementia OMIM:603041
Benign Schwannoma
Allodynia ORPHA:252164
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormal myelination ORPHA:442835
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Monosomy 18Q
Abnormal myelination, Astrocytoma ORPHA:1600
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal myelination, Astrocytosis ORPHA:309854
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal myelination, Abnormal peripheral myelination, Mixed demyelinating and axonal polyneuropathy ORPHA:466768
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Abnormal myelination, Gliosis, Delayed myelination ORPHA:404454
Cockayne Syndrome Type 3
Abnormal myelination, Demyelinating peripheral neuropathy, Astrocytosis 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, Tissue
Ptprz1tm96469(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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