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:
N/A

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 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, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:607734
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Split hand, Decreased number of peripheral myelinated ... OMIM:118200
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:606482
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Split hand, Decreased number of peripheral myelinated ... OMIM:118220
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration, Hammertoe OMIM:615185
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Onion bulb formation, Segmental peripheral demyelination, Segmental peripheral demyelination/remy... OMIM:606483
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:180800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segmental peripheral demye... OMIM:601098
Chronic Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Fatiguable weakness of proximal limb muscles, Motor conduction block, A... ORPHA:2932
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Demyelinating... ORPHA:208981
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Hypermethioninemia, Peripheral demyelination OMIM:250850
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Mildly elevated creatine kinase, Decreased motor nerve conduction velocity, Hammertoe, Decreased ... OMIM:615376
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Metaphyseal irregularity, Abnorma... ORPHA:79106
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Talipes equinovarus, Decreased number of large peripheral myelinated nerve fibers, Onion bulb for... OMIM:608340
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:118210
Optic Atrophy With Demyelinating Disease Of Cns
CNS demyelination, Optic atrophy, Peripheral demyelination OMIM:165200
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Split hand, Decreased number of peripheral myelinated ... OMIM:145900
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:614895
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Split hand, Decreased number of peripheral myelinated ... OMIM:604563
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy OMIM:182815
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Axonal loss, Peripheral hypomyelination, Onion bulb fo... OMIM:611228
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Metaphyseal irregularity, Spar... OMIM:600785
Null Syndrome
Peripheral demyelination, Demyelinating peripheral neuropathy, Decreased nerve conduction velocit... ORPHA:280234
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Split hand, Periphe... OMIM:214400
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Split hand, Flexion contracture, Decreased number of p... OMIM:607706
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Flexion c... OMIM:609260
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Foot osteomyelitis, Decreas... OMIM:600882
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Abno... OMIM:605253
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decreased number of periph... OMIM:609311
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Decreased number ... OMIM:608673
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination OMIM:162500
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Hammertoe, Peripheral axonal neu... OMIM:610100
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Basal lamina onion ... OMIM:601596
Neuropathy, Hereditary Motor And Sensory, Russe Type
Peripheral hypomyelination, Decreased motor nerve conduction velocity, Axonal regeneration, Decre... OMIM:605285
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Motor conduction block, Demyelinating peripheral neuro... ORPHA:99953
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607677
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination OMIM:311070
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Joint contracture of the hand, Optic atrophy, Short thumb, Peripheral demyelination OMIM:258650
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation OMIM:618279
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607731
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Bone cyst, Axonal loss, Pathologic fracture, Peripheral demyelination OMIM:221770
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Acute demyelinating polyneuropathy ORPHA:98916
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:605588
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral demyelination, Split hand, Peripheral hypom... OMIM:604168
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Peripheral demyelination, Decreased nerve conduction velocity OMIM:249900
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Diaphyseal dysplasia, Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Spastic Paraplegia 55, Autosomal Recessive
Talipes equinovarus, Optic atrophy, Peripheral axonal neuropathy, Onion bulb formation OMIM:615035
Abetalipoproteinemia
Acanthocytosis, CNS demyelination, Abetalipoproteinemia, Peripheral demyelination OMIM:200100
Charcot-Marie-Tooth Disease, Type 4D
Talipes cavus equinovarus, Axonal loss, Onion bulb formation, Decreased nerve conduction velocity... OMIM:601455
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Axonal regeneration, Split hand, Decreased number of p... OMIM:607831
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Axonal degeneration/regeneration, Peripheral demyelination OMIM:607736
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Peripheral demyelination OMIM:616684
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal widening, Broad tibial metaphyses, Joint laxity, Aplasia/Hypoplasia of metatarsal bon... ORPHA:2502
Krabbe Disease
Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Optic atrophy, Peripheral demye... OMIM:245200
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Flexion contracture, Peripheral demyelination OMIM:616733
Charcot-Marie-Tooth Disease, Type 4B1
Talipes equinovarus, Decreased motor nerve conduction velocity, Facial palsy, Irregular myelin loops OMIM:601382
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Optic atrophy, Peripheral demyelination OMIM:618237
Charcot-Marie-Tooth Disease Type 1B
Elevated circulating creatine kinase concentration, Peripheral dysmyelination, Peripheral axonal ... ORPHA:101082
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers ORPHA:497764
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Hypophosphatemia, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, R... OMIM:600081
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density, ... OMIM:166740
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... OMIM:300106
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Peripheral demyelination OMIM:617672
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Split hand, Axonal loss, Hammertoe, Onion bulb formation OMIM:614455
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Degeneration of anterior horn cells, Decreased number of periphe... OMIM:604484
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Tangier Disease
Peripheral demyelination, Splenomegaly, Peripheral axonal neuropathy, Decreased HDL cholesterol c... OMIM:205400
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination ORPHA:71211
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Hypophosphatemia, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, H... OMIM:300554
Motor Neuropathy, Peripheral, With Dysautonomia
Decreased nerve conduction velocity, Peripheral demyelination OMIM:252320
Galloway-Mowat Syndrome 5
Peripheral demyelination OMIM:617731
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Syndactyly, Decreased nerve conduction velocity OMIM:615284
Posterior Column Ataxia With Retinitis Pigmentosa
Flexion contracture of finger, Decreased sensory nerve conduction velocity, Camptodactyly, Joint ... OMIM:609033
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, 2-3 toe s... OMIM:218000
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers OMIM:608703
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Joint laxity, Bowing of the legs, Joint stiffness, Abnormality... ORPHA:93323
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Reduced bone mineral density, Agammaglobulinemia, Anemia, Abnormality of the metaphy... ORPHA:935
Spondylometaphyseal Dysplasia, Sedaghatian Type
Talipes equinovarus, Short toe, Short phalanx of finger, Metaphyseal irregularity, Flared iliac w... OMIM:250220
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Foot acroosteolysis, Decreased sensory nerve conduction velocity, Painless fractures due to injur... OMIM:201300
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Hypophosphatemia, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, H... OMIM:241530
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Hypocalcemic seizures, Hypophosphatemia, Subperiosteal bone resorption, Metaph... OMIM:264700
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased sensory nerve conduction velocity, Chronic axonal neuropathy, Foot osteomyelitis, Decre... OMIM:162400
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Joint stiffn... ORPHA:240
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
CNS demyelination, Peripheral demyelination OMIM:220111
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Hypocalcemic seizures, Hypophosphatemia, Subperiosteal bone resorption, Metaph... OMIM:277440
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Craniosynostosis, Short phalanx of finger, Micromelia, Short finger, Metaphy... OMIM:250215
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic ricket... OMIM:307800
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral demyelination, Peripheral hypomyelination, Demyelinating peripheral neuropathy, Cerebr... OMIM:609136
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Knee flexio... OMIM:615490
Multiple Sulfatase Deficiency
Broad thumb, Peripheral demyelination, Broad hallux, Splenomegaly, CNS demyelination OMIM:272200
Dent Disease 1
Bulging epiphyses, Hypophosphatemia, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, R... OMIM:300009
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:302800
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibia... OMIM:602111
Trigeminal Neuralgia
CNS demyelination, Peripheral demyelination, Cranial nerve compression ORPHA:221091
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Abnormality of peripheral nerve conduction, Decreased amplitude of sensory action potentials, Dec... ORPHA:90103
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypocalcemia, Hypophosphatemia, Subperiosteal bone resorption, Rickets, Ti... ORPHA:289157
Adult Krabbe Disease
CNS demyelination, Peripheral demyelination ORPHA:206448
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Broad metacarpals, Flared iliac w... OMIM:271665
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Tooth abscess, R... ORPHA:289176
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Sensory axonal neuropathy, Facial palsy, ... OMIM:256850
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis, Splenomegaly, Optic nerve com... OMIM:612301
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Swan neck... OMIM:270550
Neuropathy, Hereditary Sensory, Type Ie
Osteomyelitis, Decreased number of peripheral myelinated nerve fibers OMIM:614116
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Symmetric peripheral demyelination OMIM:169500
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Neutropenia, Severe demyelination of the white matter, Thrombocytopenia, Hy... ORPHA:79282
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Peripheral axonal degeneration, Decreased number of large ... OMIM:208920
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Metachromatic Leukodystrophy
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity OMIM:250100
Molybdenum Cofactor Deficiency, Complementation Group B
Hypouricemia, Axonal loss, Peripheral demyelination OMIM:252160
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Axonal degeneration, Peripheral axonal degeneration, Decreased number of peripheral myelinated ne... OMIM:608720
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Abnormality of the tarsal bones, Neurofibromas, Abnormal pelvis b... ORPHA:352540
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Multiple joint contractures, Peripheral a... ORPHA:320406
Glutaric Acidemia I
Elevated circulating glutaric acid concentration, Symmetrical progressive peripheral demyelinatio... OMIM:231670
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Increased susceptibility to fr... OMIM:256810
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Joint laxity, Metaphyseal irregularity, Carpal bone hypoplasia, Irregular epiphyses, Narrow iliac... OMIM:610442
Molybdenum Cofactor Deficiency, Complementation Group A
Hypouricemia, Axonal loss, Peripheral demyelination OMIM:252150
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Demyelina... ORPHA:298
Peho Syndrome
Peripheral dysmyelination, Optic atrophy, Tapered finger OMIM:260565
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers OMIM:604360
Spondylometaphyseal Dysplasia, Sedaghatian Type
Metaphyseal chondrodysplasia, Short palm, Cone-shaped epiphysis, Rhizomelic arm shortening, Iliac... ORPHA:93317
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Peripheral hypomyelination, Sensory axonal neur... OMIM:618733
Rothmund-Thomson Syndrome Type 2
Metaphyseal sclerosis, Short phalanx of finger, Abnormal trabecular bone morphology, Synostosis i... ORPHA:221016
Rothmund-Thomson Syndrome Type 1
Metaphyseal sclerosis, Short phalanx of finger, Abnormal trabecular bone morphology, Abnormality ... ORPHA:221008
Leukodystrophy, Hypomyelinating, 5
Onion bulb formation, Decreased motor nerve conduction velocity, Leukodystrophy OMIM:610532
Autosomal Spastic Paraplegia Type 58
Peripheral demyelination ORPHA:397946
Dent Disease
Bulging epiphyses, Metaphyseal irregularity, Enlarged epiphyses, Rickets, Recurrent fractures, Re... ORPHA:1652
East Syndrome
Peripheral hypomyelination, Increased circulating renin level, Hypokalemia, Peripheral axonal neu... ORPHA:199343
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Abnormality of peripheral nerves, Abnormal peripheral... ORPHA:168563
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Ne... ORPHA:2909
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Hip dislocation, Delayed peripheral myelination ORPHA:464282
Cockayne Syndrome B
Osteoporosis, Peripheral dysmyelination, Hypoplastic pelvis, Square pelvis bone, Hypoplastic ilia... OMIM:133540
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Flexion contracture of finger, Congenital finger flexion contractures, Abnormal motor nerve condu... ORPHA:466768
Autosomal Recessive Spastic Paraplegia Type 55
Arthrogryposis multiplex congenita, Decreased sensory nerve conduction velocity, Onion bulb forma... ORPHA:320375
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers, Painless fractures due to injury ORPHA:64752
Cockayne Syndrome A
Peripheral dysmyelination, Hypoplastic pelvis, Square pelvis bone, Hypoplastic iliac wing, Patchy... OMIM:216400
Osteogenesis Imperfecta, Type Viii
Radial bowing, Joint laxity, Wide anterior fontanel, Recurrent fractures, Tibial bowing, Slender ... OMIM:610915
Mitochondrial Dna-Associated Leigh Syndrome
Low plasma citrulline, Demyelinating peripheral neuropathy, Hyperalaninemia, Optic atrophy, Segme... ORPHA:255210
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Joint laxity, 2-3 toe syndactyly, Decreased number of peripheral myelinated nerve fibers, Sandal ... ORPHA:477817
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Peripheral demyelination ORPHA:171629
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Peripheral axonal neuropathy, Facial diplegia, Decreased number of peripheral myel... ORPHA:254930
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Peripheral hypomyelination, Chronic axonal neuropathy, Increased circulating renin level, Hypokal... OMIM:612780
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Demyelinating peripheral neuropathy, Basal lamina onion bulb formation ORPHA:2821
Charcot-Marie-Tooth Disease Type 1F
Flexion contracture of finger, Demyelinating sensory neuropathy, Decreased number of large periph... ORPHA:101085
Bohring-Opitz Syndrome
Dislocated radial head, Overlapping toe, Mesomelic/rhizomelic limb shortening, Delayed peripheral... OMIM:605039
Charcot-Marie-Tooth Disease Type 4C
Hip dysplasia, Abnormal motor nerve conduction velocity, Demyelinating peripheral neuropathy, Ver... ORPHA:99949
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers, Osteomyelitis OMIM:256800
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Decreased number of... OMIM:223900
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination, Brachydactyly, Aplasia of the distal phalanx of the 5th toe, Apla... ORPHA:364577
Choreoacanthocytosis
Decreased amplitude of sensory action potentials, Decreased number of peripheral myelinated nerve... 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