banner
Genes Phenotypes Help, News, Blog

Gene: Ptpre MGI:97813

Log in to follow
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 E
Synonyms:
PTPe,  PTPepsilon,  RPTPepsilon

Order Alleles

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 Ptpre 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 Ptpre by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Ulnar claw, Split hand, Hammertoe, Myelin... OMIM:118200
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Hammertoe, Onion bulb formation, Axonal degener... OMIM:606483
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... OMIM:214400
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration... OMIM:620378
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:607734
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Ulnar claw, Segment... OMIM:118220
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination, Hypermethioninemia OMIM:250850
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals... OMIM:118210
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:180800
Eiken Syndrome
Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnorm... ORPHA:79106
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:145900
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Hammertoe, Onion bulb formation, Peripheral demyelination, Axonal regeneration OMIM:615185
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Hammertoe, Talipes equinovarus, Uln... OMIM:608340
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation OMIM:182815
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:604563
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... OMIM:614895
Subacute Inflammatory Demyelinating Polyneuropathy
Limitation of movement at ankles, Symmetric peripheral demyelination, Demyelinating motor neuropa... ORPHA:206594
Chronic Inflammatory Demyelinating Polyneuropathy
Fatiguable weakness of proximal limb muscles, Peripheral demyelination, Segmental peripheral demy... ORPHA:2932
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Flexion c... OMIM:607706
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination OMIM:607791
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Split hand, Flexion contracture, Axonal loss, Clusters of axonal ... ORPHA:101097
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Talipes equinovarus... OMIM:609311
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Flexion contracture, Optic atrophy, Hamme... OMIM:609260
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Hammertoe, Mildly elevated creatine... OMIM:615376
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology OMIM:605253
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Hammertoe, Onion bulb formation, Peripheral demyelination OMIM:618279
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:311070
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Onion bulb formation, Hammertoe OMIM:610100
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy OMIM:608673
Null Syndrome
Optic atrophy, Peripheral demyelination, Demyelinating peripheral neuropathy, CNS hypomyelination ORPHA:280234
Charcot-Marie-Tooth Disease, Type 4J
Ankle flexion contracture, Axonal loss, Distal arthrogryposis, Peripheral hypomyelination, Onion ... OMIM:611228
Lethal Congenital Contracture Syndrome 8
Flexion contracture, Facial diplegia, Hammertoe, Distal arthrogryposis, Peripheral hypomyelination OMIM:616287
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:601098
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Pathologic fracture, Axonal loss, Bone cyst, Peripheral demyelination OMIM:221770
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... OMIM:617087
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Diaphyseal dysplasia ORPHA:2386
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Claw hand deformity, Elevated circulating creatine kinase concentration, Hammertoe, Axonal loss, ... OMIM:614455
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal atrophy, Onion bulb for... OMIM:605588
Charcot-Marie-Tooth Disease, Type 4B1
Talipes equinovarus, Myelin outfoldings, Irregular myelin loops, Facial palsy OMIM:601382
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Split hand, Axonal degeneration, Peripheral hypomyelination, Tali... OMIM:604168
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Abetalipoproteinemia
CNS demyelination, Abetalipoproteinemia, Peripheral demyelination, Acanthocytosis OMIM:200100
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Peripheral demyelination OMIM:616684
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Axonal ... OMIM:605285
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination OMIM:162500
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Foot osteomyelitis, Hammertoe, Peripheral... OMIM:600882
Charcot-Marie-Tooth Disease Type 4G
Talipes equinovarus, Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating periph... ORPHA:99953
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Elevated circulating creatinine concentration, Peripheral demyelination OMIM:616733
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination ORPHA:99944
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation, Talipes equinovarus OMIM:615035
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Peripheral demyelination OMIM:249900
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... ORPHA:2502
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Onion bulb formation OMIM:618184
Krabbe Disease
CNS demyelination, Optic atrophy, Peripheral demyelination, Autoimmune thrombocytopenia OMIM:245200
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Facial palsy, Flexion contracture, Hammertoe, Ulnar claw, Onion bulb formation OMIM:607684
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Split hand, Talipes equinovarus, Axonal r... OMIM:607831
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy ORPHA:497764
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... ORPHA:98856
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... OMIM:600081
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased number of peripheral myelinated nerve fibers, Hypercholesterolemia, Peripheral axonal n... OMIM:607250
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination ORPHA:71211
Peroxisome Biogenesis Disorder 8B
Elevated circulating phytanic acid concentration, Optic atrophy, Peripheral demyelination, Leukod... OMIM:614877
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra... OMIM:300106
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Segmental peripheral demyelination/remyelination, Talipes cavus equinovarus,... OMIM:601455
Caffey Disease
Joint hypermobility, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowi... OMIM:114000
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Elevated circulating creatine kinase concentration, Peripheral dysm... ORPHA:101082
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Peripheral demyelination OMIM:617672
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Dege... OMIM:604484
Posterior Column Ataxia With Retinitis Pigmentosa
Flexion contracture of finger, Optic atrophy, Camptodactyly, Joint contracture of the hand, Perip... OMIM:609033
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... OMIM:300554
Charcot-Marie-Tooth Disease, Type 4B3
Myelin outfoldings, Onion bulb formation, Syndactyly OMIM:615284
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Reduced bone mineral density, Agammaglobulinemia, Long fibula, Abnormal metaphysis morphology, Ly... ORPHA:935
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Abnormal circulating calcium concentr... OMIM:241530
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... OMIM:250220
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... ORPHA:93323
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Charcot-Marie-Tooth Disease Type 4A
Limited interphalangeal movement, Limited wrist movement, Decreased number of large peripheral my... ORPHA:99948
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... OMIM:264700
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... OMIM:307800
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Peripheral axonal neuropathy, Axonal degeneration/regeneration, Tapered finger, Long fingers, Fle... OMIM:218000
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Trigeminal Neuralgia
CNS demyelination, Cranial nerve compression, Peripheral demyelination ORPHA:221091
Multiple Sulfatase Deficiency
Broad hallux, Splenomegaly, Broad thumb, CNS demyelination, Peripheral demyelination OMIM:272200
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Autoamputation of digits, Osteolytic defe... OMIM:201300
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... OMIM:615490
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... OMIM:277440
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Dent Disease 1
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... OMIM:300009
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... OMIM:602111
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Achilles ... OMIM:302800
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Abnormal trabecular bone morphology, Femur fracture, Splenomegal... OMIM:612301
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... ORPHA:289157
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Talipes equinovarus, Sensor... OMIM:256850
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral dysmyelination, Dysmyelinating leukodystrophy, Hepatosplenomegaly, Peripheral hypomyelin... OMIM:609136
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Symmetric peripheral demyelination, Leukodystrophy OMIM:169500
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Elevated circulating creatine kinase concentration, Decreased num... OMIM:208920
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnormal calcific... OMIM:271665
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Severe demyelination of the whit... ORPHA:79282
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Osteomyelitis OMIM:614116
Adult Krabbe Disease
CNS demyelination, Peripheral demyelination ORPHA:206448
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Joint laxity, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irr... OMIM:610442
Peho Syndrome
Optic atrophy, Peripheral dysmyelination, Tapered finger OMIM:260565
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased number of large peripheral myelinated nerve fibers, Foot osteomyelitis, Osteomyelitis, ... OMIM:162400
Metachromatic Leukodystrophy
Optic atrophy, Peripheral demyelination OMIM:250100
Molybdenum Cofactor Deficiency, Complementation Group B
Axonal loss, Hypouricemia, Peripheral demyelination OMIM:252160
Leukodystrophy, Hypomyelinating, 5
Onion bulb formation, Leukodystrophy, CNS hypomyelination OMIM:610532
Autosomal Spastic Paraplegia Type 58
Peripheral demyelination ORPHA:397946
Molybdenum Cofactor Deficiency, Complementation Group A
Axonal loss, Hypouricemia, Peripheral demyelination OMIM:252150
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Sensory axonal neuro... OMIM:271245
Spastic Ataxia, Charlevoix-Saguenay Type
Swan neck-like deformities of the fingers, Decreased number of large peripheral myelinated nerve ... OMIM:270550
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers OMIM:604360
Glutaric Acidemia I
Elevated circulating glutaric acid concentration, Symmetrical progressive peripheral demyelinatio... OMIM:231670
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Short metacarpal, Aplastic anemia, A... ORPHA:221016
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... ORPHA:93317
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Short metacarpal, Aplastic anemia, M... ORPHA:221008
East Syndrome
Peripheral axonal neuropathy, Hypokalemia, Peripheral hypomyelination, Increased circulating reni... ORPHA:199343
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers OMIM:608703
Mitochondrial Neurogastrointestinal Encephalomyopathy
Peripheral axonal neuropathy, Demyelinating peripheral neuropathy, Decreased number of large peri... ORPHA:298
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Hip dislocation, Delayed peripheral myelination ORPHA:464282
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination ORPHA:168563
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Spastic Ataxia 5, Autosomal Recessive
Onion bulb formation OMIM:614487
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Hypoplasia of the ulna, Aplastic ane... ORPHA:2909
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Renal hypophosphatemia, Osteomalacia, Elevated circulating... ORPHA:1652
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Joint laxity, Osteomyelitis, Delayed myelination, Neurofibroma, Genu valgum, Talipes equinovarus,... OMIM:619475
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration ORPHA:90103
Neuromuscular Oculoauditory Syndrome
Elevated circulating creatine kinase concentration, Knee flexion contracture, Wrist flexion contr... OMIM:618733
Hereditary Sensory And Autonomic Neuropathy Type 5
Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Cockayne Syndrome B
Abnormal peripheral myelination, Splenomegaly, Limitation of joint mobility, Optic atrophy, Osteo... OMIM:133540
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Peripheral demyelination ORPHA:171629
Mitochondrial Dna-Associated Leigh Syndrome
Segmental peripheral demyelination/remyelination, Low plasma citrulline, Optic atrophy, Hyperalan... ORPHA:255210
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Joint contracture of the hand, Congenital finger flexion contrac... ORPHA:466768
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Peripheral axonal neurop... ORPHA:254930
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Joint laxity, Sandal gap, 2-3 toe syndact... ORPHA:477817
Autosomal Recessive Spastic Paraplegia Type 55
Optic neuropathy, Optic atrophy, Talipes equinovarus, Arthrogryposis multiplex congenita, Onion b... ORPHA:320375
Cockayne Syndrome A
Hip contracture, Abnormal peripheral myelination, Splenomegaly, Limitation of joint mobility, Opt... OMIM:216400
Charcot-Marie-Tooth Disease Type 1F
Demyelinating sensory neuropathy, Optic nerve hypoplasia, Demyelinating motor neuropathy, Decreas... ORPHA:101085
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy ORPHA:2821
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Chronic axonal neuropathy, Hypokalemia, Peripheral hypomyelination, Increased circulating renin l... OMIM:612780
Bohring-Opitz Syndrome
Syndactyly, Overlapping toe, Delayed peripheral myelination, Tapered finger, Mesomelic/rhizomelic... OMIM:605039
Charcot-Marie-Tooth Disease Type 4C
Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Hammertoe, Hip dysplasia, ... ORPHA:99949
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
CNS demyelination, Peripheral demyelination, Hyperammonemia OMIM:220111
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers, Autoamputation of digits, Osteomyel... OMIM:256800
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers, Autoamputation of digits, Osteomyelitis l... OMIM:256810
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Elevated circulating creatinine con... OMIM:223900
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the 5th finger, De... ORPHA:364577
Charcot-Marie-Tooth Disease Type 4B2
Myelin outfoldings, Optic atrophy ORPHA:99956
Choreoacanthocytosis
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Elevated ci... ORPHA:2388

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 Ptpre

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 Ptpre.

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

Order Mouse and ES Cells

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.

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter