Not currently registered for phenotyping at IMPC

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

Gene Summary

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

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-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Autoimmune antibody positivity,... ORPHA:90283
Mental Retardation, Autosomal Recessive 4
Delayed myelination OMIM:611107
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Pelizaeus-Merzbacher disease
Leukodystrophy, Abnormal CNS myelination DECIPHER:38
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Pelizaeus-Merzbacher Disease
Cerebral dysmyelination, Sudanophilic leukodystrophy, Abnormal CNS myelination, Reduction of olig... OMIM:312080
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, Recurrent bac... ORPHA:70592
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Progressive Multifocal Leukoencephalopathy
CNS demyelination, Abnormal oligodendroglia morphology, Abnormal astrocyte morphology ORPHA:217260
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Complement Component C1S Deficiency
Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
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
Trophic changes related to pain, Somatic sensory dysfunction, Allodynia, Dysesthesia ORPHA:83452
Developmental And Epileptic Encephalopathy 14
Delayed myelination, Gliosis OMIM:614959
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmunity ORPHA:444463
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
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Insulin Autoimmune Syndrome
Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity ORPHA:411593
Eosinophilopenia
Autoimmunity OMIM:131430
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
CNS demyelination, Gliosis OMIM:221820
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Microcephaly 10, Primary, Autosomal Recessive
CNS hypomyelination, Delayed myelination, Gliosis OMIM:615095
T-Cell Receptor-Alpha/Beta Deficiency
Autoimmunity OMIM:615387
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
Anterior Cutaneous Nerve Entrapment Syndrome
Somatic sensory dysfunction, Hyperesthesia, Impaired tactile sensation, Allodynia ORPHA:51890
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Abnormal myelination OMIM:618324
Immunoglobulin A Deficiency 2
Autoimmunity OMIM:609529
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Decreased number of peripheral myelinated nerve fibers OMIM:604484
Trigeminal Neuralgia
Somatic sensory dysfunction, Paresthesia, Allodynia ORPHA:221091
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination ORPHA:352682
Leukoencephalopathy With Vanishing White Matter
CNS demyelination, Cerebral hypomyelination, Gliosis OMIM:603896
Lissencephaly 8
Abnormal myelination OMIM:617255
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, Gliosis, Symmetric peripheral demyelination OMIM:169500
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis OMIM:270150
Neurotrophic Keratopathy
Hyperesthesia, Allodynia ORPHA:137596
Pelizaeus-Merzbacher Disease, Connatal Form
Abnormal myelination, Cerebral hypomyelination, Gliosis ORPHA:280210
Subcorneal Pustular Dermatosis
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:48377
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis OMIM:300857
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Abnormal myelination ORPHA:289266
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Abnormal myelination ORPHA:34527
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
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Astrocytosis, Abnormal myelination ORPHA:309854
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal myelination, Mixed demyelinating and axonal polyneuropathy, Abnormal peripheral myelination ORPHA:466768
Monosomy 18Q
Abnormal myelination, Astrocytoma ORPHA:1600
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Abnormal myelination, Delayed myelination, Gliosis ORPHA:404454
Cockayne Syndrome Type 3
Astrocytosis, Abnormal myelination, Demyelinating peripheral neuropathy ORPHA:90324
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) Targeting vectors

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