Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
triadin
Synonyms:
triadin 3,  EG432451,  triadin-3,  triadin-1,  triadin 2,  2310045H21Rik,  triadin-2,  triadin 1

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 Trdn 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.

The table below shows human diseases associated to Trdn by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Romano-Ward Syndrome
ORPHA:101016
Catecholaminergic Polymorphic Ventricular Tachycardia
ORPHA:3286
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
OMIM:615441

The table below shows human diseases predicted to be associated to Trdn by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Myopathy, Distal, 5
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting OMIM:617030
Miyoshi Myopathy
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Pelvic girdle muscle weakness, Tric... ORPHA:45448
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... OMIM:605820
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... OMIM:618655
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... ORPHA:611
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Spinal muscular atrophy,... OMIM:158600
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... OMIM:609115
Hypertrophia Musculorum Vera
Calf muscle hypertrophy OMIM:145800
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Masticatory Muscles, Hypertrophy Of
Skeletal muscle hypertrophy OMIM:154850
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Increase... OMIM:618848
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles OMIM:600334
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... OMIM:601954
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal morphology of the abdominal m... OMIM:615424
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... ORPHA:2593
Myopathy, Centronuclear, 1
Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Flexion contracture, Cen... OMIM:160150
Muscular Dystrophy, Congenital, 1B
Generalized muscle hypertrophy, Achilles tendon contracture, Facial palsy, Shoulder girdle muscle... OMIM:604801
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Arthrogryposis multiplex congenita, Knee flexion contracture, Paraspinal muscle ... OMIM:602484
Gne Myopathy
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... ORPHA:602
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Nemaline Myopathy 6
Nemaline bodies, Myopathy, Limb muscle weakness OMIM:609273
Myopathy, Distal, Tateyama Type
Calf muscle hypertrophy OMIM:614321
Myopathy, Distal, Infantile-Onset
Foot dorsiflexor weakness, Calf muscle hypertrophy OMIM:160300
Distal Myopathy, Welander Type
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ... ORPHA:603
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy OMIM:609524
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Increased variabilit... ORPHA:34516
Rippling Muscle Disease 2
Abnormal skeletal muscle morphology, Skeletal muscle hypertrophy OMIM:606072
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Limb-girdle muscular dystrophy, Calf mu... OMIM:608099
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi... OMIM:618940
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facial mu... OMIM:619477
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Muscle fiber hypertrophy, Skeletal muscle atrophy, Internally nucleated ske... ORPHA:178464
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8
Calf muscle hypertrophy OMIM:618135
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakne... OMIM:500002
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles ORPHA:270
Rippling Muscle Disease 1
Skeletal muscle hypertrophy OMIM:600332
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Reduced muscle fiber alpha dystroglycan, Limb-girdle muscular dystroph... ORPHA:280333
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Weakness of facial musculature... ORPHA:457050
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... ORPHA:609
Myopathy, Myofibrillar, 3
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Myofibrillar myopathy, ... OMIM:609200
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... OMIM:608423
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613158
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscular dystrophy, Calf muscl... OMIM:616052
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Ankle flexion contracture, Muscular dystrophy, Increased endomysial connective tissue, Flexion co... OMIM:617072
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... OMIM:254110
Distal Myopathy With Anterior Tibial Onset
Weakness of the intrinsic hand muscles, Tibialis muscle weakness, Finger flexor weakness, Intrins... ORPHA:178400
Vacuolar Neuromyopathy
Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta... OMIM:601846
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Myopathy, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... OMIM:608358
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Skeletal muscle hypertrophy, Macroglossia, Achilles tendon contracture, Facial palsy, Joint contr... OMIM:608840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter OMIM:618992
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... OMIM:254130
Central Core Disease Of Muscle
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... OMIM:117000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613157
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, Facial hypotonia, Should... ORPHA:266
Congenital Muscular Dystrophy With Intellectual Disability
Skeletal muscle hypertrophy, Facial palsy, Reduced muscle fiber alpha dystroglycan, Hypoglycosyla... ORPHA:370968
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C... OMIM:613530
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu... OMIM:603511
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Skeletal muscle hypertrophy, Flexion contracture OMIM:611588
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Calf muscle hypertrophy, Rimmed vacuoles OMIM:617760
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, EMG: myopathic abnormalities, ... ORPHA:276435
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Ne... ORPHA:97240
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Myopathy, Scapular winging, Muscle fiber splitting OMIM:618129
Alpha-B Crystallin-Related Late-Onset Myopathy
Autophagic vacuoles, Facial diplegia, EMG: myopathic abnormalities, Increased variability in musc... ORPHA:399058
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Pelvic girdle muscle weakness, Facial palsy, EMG: myopathic abnormalities, Shoulder girdle muscle... OMIM:611307
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder girdle muscle weakness, Red... ORPHA:34515
Myopathy, Scapulohumeroperoneal
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... OMIM:616852
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:613204
Miyoshi Muscular Dystrophy 3
Muscular dystrophy, Quadriceps muscle atrophy, Calf muscle hypertrophy OMIM:613319
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Myopathy, Distal, 1
Toe extensor amyotrophy, Ragged-red muscle fibers, Facial palsy, Rimmed vacuoles, Weakness of lon... OMIM:160500
Hemihyperplasia, Isolated
Skeletal muscle hypertrophy OMIM:235000
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb mu... OMIM:619042
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Macroglossia, Myopathy, Skeletal muscle hypertrophy ORPHA:2349
Myofibrillar Myopathy 11
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... OMIM:619178
Nemaline Myopathy 5
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, N... OMIM:605355
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy OMIM:613877
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, EMG: myopathic abnormalities, Joint contracture of the ha... ORPHA:399086
Myopathy, Myofibrillar, 2
Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Fo... OMIM:608810
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnormalities, Int... ORPHA:488650
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Flexion contracture, Rimmed vacuoles OMIM:300696
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Ankle flexion contracture, Scapular muscle atrophy, Congenital finger flexion contractures, Hamst... ORPHA:267
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Pelvic girdle muscle weakness, Achilles tendon contracture, Scapular winging, Quadriceps muscle w... OMIM:603689
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle atrophy, Skeletal muscle hypertrophy ORPHA:101082
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuoles, Increased variability... OMIM:616924
Myopathy, Distal, 3
Joint contracture of the hand, EMG: myopathic abnormalities, Rimmed vacuoles, Muscular dystrophy,... OMIM:610099
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... OMIM:618654
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... OMIM:615422
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Nemaline Myopathy 4
Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Flexion contracture, Scapular win... OMIM:609285
Dpm3-Cdg
Muscular dystrophy, Pelvic girdle muscle weakness, Calf muscle hypertrophy, Rimmed vacuoles ORPHA:263494
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... ORPHA:598
Mitochondrial Myopathy, Infantile, Transient
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... OMIM:500009
Muscular Dystrophy, Congenital, Merosin-Positive
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... OMIM:609456
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated sk... OMIM:618823
Oculopharyngodistal Myopathy 3
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... OMIM:619473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Skeletal muscle hypertrophy, Macroglossia, Facial palsy, Congenital muscular dystrophy, Left vent... OMIM:613156
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Proximal amyotrophy, Muscular dystrophy, Scapular winging, Calf muscle hypertrophy OMIM:601287
Nemaline Myopathy 2
Skeletal muscle atrophy, Foot dorsiflexor weakness, Weakness of facial musculature, Limb muscle w... OMIM:256030
Distal Myotilinopathy
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Multiple joint contractures, Distal... ORPHA:98911
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Rimmed ... OMIM:612937
Myotonia With Skeletal Abnormalities And Mental Retardation
Firm muscles, Skeletal muscle hypertrophy OMIM:255710
Adult-Onset Nemaline Myopathy
Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, Increased variability in ... ORPHA:171442
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Triceps weakness, Generalized amyotrophy, Left ventricular hypertrophy, Muscular dystro... ORPHA:86812
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Myotonia Congenita, Autosomal Recessive
Muscle hypertrophy of the lower extremities, Skeletal muscle hypertrophy OMIM:255700
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting OMIM:609452
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Macroglossia, Hypoglycosylation... ORPHA:352479
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Triangular tongue, Skeletal muscle atrophy, Macroglossia, Muscular dystrophy, Calf muscle hypertr... OMIM:616827
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, EMG: myopathic abnormalities, Muscular dystrophy, Inf... OMIM:123320
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Paramyotonia Congenita Of Von Eulenburg
Skeletal muscle hypertrophy OMIM:168300
Myasthenic Syndrome, Congenital, 14
Scapular winging, Ragged-red muscle fibers, Limb-girdle muscle weakness, Flexion contracture OMIM:616228
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapular winging, EMG: ... ORPHA:353
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle muscle weakness, Myopathy, Limb muscle weakness, Shoulder girdle muscle atrophy, Sh... OMIM:167320
Salih Myopathy
Myopathy, Facial palsy, Calf muscle hypertrophy, Flexion contracture, Centrally nucleated skeleta... OMIM:611705
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Proximal amyotrophy, Scapuloperoneal amyotrophy, Reduced muscle fiber alpha dystroglycan, Limb-gi... ORPHA:206559
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... OMIM:160565
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy ORPHA:99014
Amish Nemaline Myopathy
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, EMG: myopathic abnormalities,... ORPHA:98902
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Proximal mu... OMIM:618138
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Decreased muscle glycogen content OMIM:611556
Myotonia, Potassium-Aggravated
Skeletal muscle hypertrophy OMIM:608390
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Absent muscle dystrophin expression, Abnormality of the shoulder girdle musculature, Quadriceps m... ORPHA:206546
Dystonia 7, Torsion
Torticollis, Skeletal muscle hypertrophy OMIM:602124
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Myopathy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia, Increased muscl... ORPHA:254864
Myopathy, Proximal, With Ophthalmoplegia
Scapular winging, Myopathy, Congenital contracture, Muscle fiber inclusion bodies OMIM:605637
Myotonia Congenita, Autosomal Dominant
Skeletal muscle hypertrophy OMIM:160800
Congenital Muscular Dystrophy, Ullrich Type
Abnormal muscle fiber morphology, Torticollis, Generalized amyotrophy, EMG: myopathic abnormaliti... ORPHA:75840
Myopathy, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... OMIM:255160
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Richieri Costa-Da Silva Syndrome
Asymmetric limb muscle stiffness, Decreased muscle mass, Distal lower limb muscle weakness, Skele... ORPHA:3101
Acetazolamide-Responsive Myotonia
Skeletal muscle hypertrophy ORPHA:99736
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Upper limb amyotrophy, Triceps weakness, Proximal lower limb amyotrophy, Sh... ORPHA:437572
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy OMIM:607855
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Pelvic girdle muscle weakness, Skeletal muscle atrophy, Axial muscle atrophy, Achilles tendon con... ORPHA:254361
Myotonia Permanens
Generalized muscle hypertrophy, Skeletal muscle hypertrophy ORPHA:99735
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... ORPHA:171439
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... ORPHA:1145
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Multiple joint co... ORPHA:597
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Right ventricular hypertrophy, Muscular dystrophy, Muscle fiber necrosis... OMIM:253700
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... OMIM:609560
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Proximal amyotrophy, Macroglossia, Achilles tendon contracture, Shoulder girdle muscle atrophy, S... OMIM:606612
Congenital Myasthenic Syndromes With Glycosylation Defect
Myopathy, Ragged-red muscle fibers, Muscle fiber tubular inclusions, Facial palsy, Knee flexion c... ORPHA:353327
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Laing Early-Onset Distal Myopathy
Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle tissue, Toe extensor amy... ORPHA:59135
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers ORPHA:663
Congenital Muscular Dystrophy With Cerebellar Involvement
Skeletal muscle hypertrophy, Macroglossia, Reduced muscle fiber alpha dystroglycan, Congenital mu... ORPHA:370959
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Skeletal muscle atrophy, Increased muscle glycogen content ORPHA:371
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Myopathy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of po... OMIM:310300
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Faci... OMIM:255320
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... OMIM:616470
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Calf muscle hypertrophy, Myositis ORPHA:565899
Bethlem Myopathy
Multiple joint contractures, Interphalangeal joint contracture of finger, Ankle flexion contractu... ORPHA:610
Congenital Multicore Myopathy With External Ophthalmoplegia
Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal muscle atrophy, Internall... ORPHA:98905
Shox-Related Short Stature
Skeletal muscle hypertrophy ORPHA:314795
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy, Marked muscular... ORPHA:79083
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... OMIM:617114
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myopathy, Pelvic girdle muscle weakness, Calf muscle hypertrophy, Increased variability in muscle... ORPHA:119
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Scapuloperoneal Spinal Muscular Atrophy
Peroneal muscle atrophy, Scapuloperoneal amyotrophy, Scapular muscle atrophy, Torticollis, Progre... OMIM:181405
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture, Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congeni... OMIM:618484
Uruguay Faciocardiomusculoskeletal Syndrome
Marked muscular hypertrophy, Camptodactyly of toe, Joint contracture of the hand OMIM:300280
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content OMIM:610717
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy ORPHA:2348
Adult-Onset Distal Myopathy Due To Vcp Mutation
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn... ORPHA:329478
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Muscular dystrophy, Myopathy, Limb-girdle muscular dystrophy ORPHA:369840
Hyperkalemic Periodic Paralysis
Myopathy, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Flexion contracture ORPHA:682
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Muscular dystrophy OMIM:617066
Satoyoshi Syndrome
Skeletal muscle hypertrophy OMIM:600705
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Myopathy, Centronuclear, 2
Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular winging, Flexion con... OMIM:255200
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Necklace skeletal muscle fibers, Type 1 fibers relati... ORPHA:596
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Viral infection-induced rhabdomyolysis, Skeletal myopathy, EMG: myopathic ... ORPHA:57
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... ORPHA:98855
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Increased vari... ORPHA:401768
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Increased endomysial connective tissue, Minicore myopathy, Arthrogryposis multiplex congenita, Fl... ORPHA:178148
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Limb muscle weakness, Muscular dystrophy, Centrally nucleated skeletal m... OMIM:616812
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets ORPHA:681
Cap Myopathy
Abnormal muscle fiber morphology, Generalized amyotrophy, Facial palsy, Increased variability in ... ORPHA:171881
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Increased intramyocellular lipi... OMIM:252011
Schwartz-Jampel Syndrome, Type 1
Shoulder flexion contracture, Skeletal muscle atrophy, Hip contracture, Skeletal muscle hypertrop... OMIM:255800
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie... ORPHA:486815
Classic Multiminicore Myopathy
Increased muscle lipid content, Weakness of facial musculature, Right ventricular hypertrophy, Ge... ORPHA:324604
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Torticollis, Generalized amyotrophy, Facial palsy, Congenital muscula... OMIM:254090
Autosomal Recessive Progressive External Ophthalmoplegia
Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Facial palsy, Muscle fiber atrophy, Sca... ORPHA:254886
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... ORPHA:98863
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Myositis, EMG: myopat... ORPHA:206569
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... ORPHA:261
Cidec-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Calf muscle hypertrophy ORPHA:435651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Skeletal muscle hypertrophy, Macroglossia, Muscular dystrophy, Increased variability in muscle fi... OMIM:613150
Myopathy, Myofibrillar, 8
Central core regions in muscle fibers, Limb muscle weakness, Achilles tendon contracture, General... OMIM:617258
Congenital Generalized Lipodystrophy
Macroglossia, Skeletal muscle hypertrophy ORPHA:528
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... ORPHA:169186
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ragged-red muscle fibers, Generalized amyotrophy, Facial palsy, EMG: myopathic abnormalities, Mus... OMIM:258450
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers OMIM:540000
Myopathy, Congenital, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Pelvic girdle muscle weakness, Macroglossia, Achilles tendon contracture, Shoulder girdle muscle ... OMIM:607155
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Abnormality of the foot musculature, EMG: myopathic abno... ORPHA:169189
Leri-Weill Dyschondrosteosis
Skeletal muscle hypertrophy OMIM:127300
Primary Lipodystrophy
Myopathy, Skeletal muscle hypertrophy ORPHA:90970
Stiff Person Spectrum Disorder
Paraspinal muscle hypertrophy ORPHA:3198
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon contracture, EMG: myopathic ab... OMIM:615418
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Myopathy, Ragged-red muscle fibers, Generalized amyotrophy, Weakness of facial musculature ORPHA:352447
Lipe-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Proximal muscle weakness in lower limbs, Proximal muscle weakness in... ORPHA:435660
Marinesco-Sjogren Syndrome
Myopathy, Skeletal muscle atrophy, Rimmed vacuoles, Flexion contracture, Centrally nucleated skel... OMIM:248800
Spastic Paraplegia Type 7
Upper limb muscle weakness, Ragged-red muscle fibers, Lower limb muscle weakness, Lower limb hype... ORPHA:99013
King-Denborough Syndrome
Minicore myopathy, Weakness of facial musculature, Muscle fiber atrophy, Centrally nucleated skel... OMIM:619542
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Camptodactyly of toe, Joint contracture of the hand OMIM:175700
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Proximal upper limb muscle hypertrophy, Myopathy, Muscle hypertrophy of the lower extremities, Sk... ORPHA:280365
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Generalized amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in m... ORPHA:52430
Lipodystrophy, Congenital Generalized, Type 4
Muscular dystrophy, Skeletal muscle hypertrophy, Flexion contracture OMIM:613327
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Distal upper limb amyotrophy, Shoulder girdle musc... ORPHA:600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Ragged-red muscle fibers, Skeletal muscle atrophy, Limb muscle weakness, Facial palsy, EMG: myopa... OMIM:157640
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy ORPHA:3068
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture OMIM:615368
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis ORPHA:228302
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Generalized amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Diaphragmatic e... OMIM:616866
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Intrinsic hand muscle atro... OMIM:619574
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, EMG: myopathic abnormalities, Limb muscle weakness OMIM:609286
Schwartz-Jampel Syndrome
Myopathy, Shoulder flexion contracture, Skeletal muscle atrophy, Hip contracture, Flexion contrac... ORPHA:800
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Muscle fiber splitting OMIM:606408
Lipodystrophy, Familial Partial, Type 2
Increased intramuscular fat, Skeletal muscle hypertrophy OMIM:151660
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ragged-red muscle fibers, Muscle fiber necrosis, Increased variability in muscle fiber diameter OMIM:607459
Juvenile Amyotrophic Lateral Sclerosis
Contractures of the joints of the upper limbs, Skeletal muscle atrophy, Contractures of the joint... ORPHA:300605
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Myopathy, Skeletal muscle atrophy, Flexion contracture ORPHA:367
Amyotrophic Lateral Sclerosis 21
Shoulder girdle muscle weakness, Rimmed vacuoles OMIM:606070
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Neuromuscular Oculoauditory Syndrome
EMG: myopathic abnormalities, Knee flexion contracture, Wrist flexion contracture, Muscle fiber n... OMIM:618733
Myhre Syndrome
Skeletal muscle hypertrophy ORPHA:2588
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Ragged-red muscle fibers, Distal amyotrophy OMIM:603041
Neutral Lipid Storage Myopathy
Pelvic girdle muscle weakness, Generalized limb muscle atrophy, Hand muscle weakness, Myopathy, I... ORPHA:98908
Myhre Syndrome
Generalized muscle hypertrophy, Skeletal muscle hypertrophy, Camptodactyly OMIM:139210
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Neck muscle hypertrophy ORPHA:420492
Polymyositis
Abnormal muscle fiber morphology ORPHA:732
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Increased varia... OMIM:164310
Native American Myopathy
Abnormality of skeletal muscle fiber size, Skeletal muscle atrophy, Arthrogryposis multiplex cong... ORPHA:168572
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Absent muscle fiber merosin, Myositis, Macroglossia, Facial palsy, Congenital muscular dystrophy,... ORPHA:258
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Skeletal myopathy, Abnormality of the shoulder girdle musculature... ORPHA:565612
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Lower limb muscle we... ORPHA:79102
Wiedemann-Rautenstrauch Syndrome
Limb hypertonia, Skeletal muscle hypertrophy, Camptodactyly of finger ORPHA:3455
Mowat-Wilson Syndrome
Generalized muscle hypertrophy OMIM:235730
Parkes Weber Syndrome
Muscle hypertrophy of the lower extremities, Lower limb muscle weakness ORPHA:90307
45,X/46,Xy Mixed Gonadal Dysgenesis
Muscle hypertrophy of the lower extremities ORPHA:1772
Catecholaminergic Polymorphic Ventricular Tachycardia
ORPHA:3286
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
OMIM:615441
Romano-Ward Syndrome
ORPHA:101016

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 Trdn

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 Trdn.

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

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