Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
calcium channel, voltage-dependent, beta 1 subunit
Synonyms:
Cchb1,  Cchlb1

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 Cacnb1 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 Cacnb1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... OMIM:616199
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... ORPHA:611
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... OMIM:158600
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... OMIM:618655
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... OMIM:605820
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... OMIM:609115
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy OMIM:617030
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... OMIM:271150
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Scoliosis, Hyperlordosis, Skeletal muscle atrophy OMIM:617760
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... ORPHA:603
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Increased variability in muscle fiber diameter, Scoliosis,... OMIM:619042
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, M... OMIM:300718
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... OMIM:500002
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Hyperlordosis, Muscle fiber splitting, Scapular winging, Myopathy, Proximal amyotrophy OMIM:618129
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Reduced muscle fiber alpha dystroglycan, Lumbar hyperlordosis, Calf muscle hypertrophy, Calf musc... ORPHA:280333
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies OMIM:609524
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Lumbar hyperlordosis, Toe extensor amyotrophy, Rimmed vacuoles, ... OMIM:160500
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... OMIM:615424
Myopathy, Centronuclear, 1
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... OMIM:160150
Nemaline Myopathy 2
Nemaline bodies, Hand clenching, Flexion contracture, Weakness of facial musculature, EMG: myopat... OMIM:256030
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... OMIM:300696
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Scoliosis, Congenital muscular dystrophy, Fatty r... OMIM:613204
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, EMG: myopathic abnormalities, Increased variability in mu... ORPHA:266
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... OMIM:253700
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Shoulder girdle muscle weakness, Weakness of facial musculature, Angulated muscle fibers, Scapula... OMIM:619477
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Kyphosis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, ... ORPHA:75840
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... OMIM:609200
Myasthenic Syndrome, Congenital, 14
Flexion contracture, Limb-girdle muscle weakness, Scoliosis, Hyperlordosis, Ragged-red muscle fib... OMIM:616228
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... ORPHA:34516
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... ORPHA:609
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... ORPHA:457050
Multiminicore Myopathy
Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Minicore myopathy, Sco... ORPHA:598
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... OMIM:301075
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy ORPHA:270
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Kyphoscoliosis, Flexion contracture, Type 1 muscle fiber predom... OMIM:609285
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... OMIM:254110
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:608423
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pe... OMIM:167320
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... ORPHA:2593
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... ORPHA:276435
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Increased variability in muscle fiber diameter, Scoliosis, Congenital muscul... OMIM:609456
Bethlem Myopathy 2
Kyphosis, Flexion contracture, Increased variability in muscle fiber diameter, Scoliosis, Scapula... OMIM:616471
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... OMIM:619566
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Increased endomysial connective tissue, ... OMIM:618484
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, EM... ORPHA:399086
Zebra Body Myopathy
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... ORPHA:97240
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Talipes equinovarus, Type 1 muscle fiber predominance, Facial palsy ORPHA:178145
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Lumbar hyperlordosis, Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, I... ORPHA:86812
Vacuolar Neuromyopathy
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... OMIM:601846
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Talipes equinovarus, ... OMIM:181405
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... OMIM:253601
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... OMIM:254130
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... OMIM:608358
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Ulnar claw, Flexion contracture, Scoliosis, Foot dorsiflexor weakness, Distal am... OMIM:607684
Myopathy, Distal, 3
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... OMIM:610099
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased endomysial connective tissue, Lumbar hyperlordosis, Macroglossia, Right ventricular hyp... ORPHA:353
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... OMIM:616924
Myofibrillar Myopathy 11
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... OMIM:619178
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... ORPHA:488650
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... OMIM:619473
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Lumbar hyperlordosis, Abnormality of the shoulder girdle musculature, Thoracic scoliosis, Left ve... ORPHA:206546
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... OMIM:608810
Central Core Disease
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Talipes equi... ORPHA:597
Myopathy, Proximal, With Ophthalmoplegia
Scoliosis, Muscle fiber inclusion bodies, Scapular winging, Congenital contracture, Myopathy OMIM:605637
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Increased endomysial connective tissue, Ankle flexion contracture, Flexion co... OMIM:617072
Myopathy, Myofibrillar, 7
Multiple joint contractures, Nemaline bodies, Lumbar hyperlordosis, Talipes equinovarus, Flexion ... OMIM:617114
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... OMIM:613157
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Congenital Myasthenic Syndromes With Glycosylation Defect
Lumbar hyperlordosis, Flexion contracture, Generalized weakness of limb muscles, Limb-girdle musc... ORPHA:353327
Myopathy, Myosin Storage, Autosomal Recessive
Thoracic scoliosis, EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle wea... OMIM:255160
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Talipes equinovarus, EMG: myopathic abnormalities, Diaphragmatic eventrati... OMIM:614399
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle f... OMIM:603511
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Scoliosis, Facial palsy, Centrally nucleated skelet... OMIM:611705
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Increased endomysial connective tissue, Triceps weakness, EMG: myopathic ab... ORPHA:437572
Dystonia 31
Abnormal posturing OMIM:619565
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Limb-girdle mu... OMIM:613818
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Kyphoscoliosis, Increased endomysial connective tissue, Flexion co... OMIM:607855
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... OMIM:603689
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... ORPHA:59135
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Kyphoscoliosis, Abnormal muscle fiber morphology, Weakness of facial musculature... ORPHA:1145
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... ORPHA:98905
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:612937
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder... OMIM:613530
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Scoliosis, Hyperlordosis, Limb muscle weakness, Decreased muscle mas... OMIM:603034
Myopathy, Centronuclear, 2
Kyphosis, Talipes equinovarus, Flexion contracture, EMG: myopathic abnormalities, Scapular wingin... OMIM:255200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, C... OMIM:618138
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Scoliosis, Type 1 m... ORPHA:424107
Myopathy, Congenital Proximal, With Minicore Lesions
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... OMIM:618823
Glycogen Storage Disease Ixd
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... OMIM:300559
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Increased endomysial connective tissue, Flexion contracture, Minicore myopathy, Scolios... ORPHA:178148
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Shoulder fl... OMIM:605355
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Bethlem Myopathy
Multiple joint contractures, Quadriceps muscle weakness, Achilles tendon contracture, Flexion con... ORPHA:610
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 2 muscle fiber atrophy, Type 1 muscle fiber atrophy, Facial palsy, Scoliosis, Distal amyotro... OMIM:617519
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... OMIM:619903
Rigid Spine Muscular Dystrophy 1
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Increased variab... OMIM:602771
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Scapular winging,... OMIM:616052
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Adducted thumb, Death in childhood, Increased variability in muscle fiber diamet... OMIM:619334
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Distal Myotilinopathy
EMG: myopathic abnormalities, Multiple joint contractures, Abnormal muscle fiber myotilin, Distal... ORPHA:98911
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Kyphosis, Scoliosis, Hyperlordosis, Facial palsy, Abnor... OMIM:128100
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Weakness of facial musculature, Increased variability in muscle fibe... ORPHA:536516
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, EMG: myopathic abnormalities, Death in childhood, Ragged-red muscle fibers, Limb... OMIM:609560
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Muscle fiber necrosis, Kyphosis, Talipes equinovarus, Flexion contracture, Increased... OMIM:254090
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles ORPHA:263494
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Centrally nucleated skeletal muscle fibers, Skel... OMIM:615422
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Abs... ORPHA:98855
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variability in musc... ORPHA:171442
Oculopharyngodistal Myopathy 4
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:619790
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... OMIM:160565
Cap Myopathy
Abnormal muscle fiber morphology, Lumbar hyperlordosis, Thoracic scoliosis, Increased variability... ORPHA:171881
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased va... ORPHA:171439
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Scoliosis, Centrally nucleated skeletal muscle fibers OMIM:617066
Nemaline Myopathy 3
Nemaline bodies, EMG: myopathic abnormalities, Scoliosis, Type 1 muscle fiber predominance, Hyper... OMIM:161800
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Muscular dystrophy, Hyperlordosis, Limb-girdle muscular dystrophy, Myopathy ORPHA:369840
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Postsynaptic Congenital Myasthenic Syndromes
Triceps weakness, EMG: myopathic abnormalities, Facial palsy, Scoliosis, Type 1 muscle fiber pred... ORPHA:98913
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting OMIM:609452
Ullrich Congenital Muscular Dystrophy 2
Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter, Congenital m... OMIM:616470
King-Denborough Syndrome
Kyphoscoliosis, Muscle fiber atrophy, Lumbar hyperlordosis, Weakness of facial musculature, Minic... OMIM:619542
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Abs... ORPHA:98863
Marinesco-Sjogren Syndrome
Kyphosis, Coxa valga, Flexion contracture, Rimmed vacuoles, Scoliosis, Centrally nucleated skelet... OMIM:248800
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Abs... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Abs... ORPHA:261
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Talipes equinovarus, Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Foot dorsiflexo... OMIM:620011
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Myopathy, Congenital, With Fiber-Type Disproportion
Lumbar hyperlordosis, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Scoliosi... OMIM:255310
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... OMIM:500009
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Talipes equinovarus, Left ventricular hypertrophy, Facial palsy... ORPHA:169186
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Proximal muscle weakness in lower limbs, L... ORPHA:352479
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... ORPHA:486815
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Skeletal muscle atrophy, Type 1 muscle fiber predominance OMIM:618276
Intermediate Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... ORPHA:171433
Nemaline Myopathy 11, Autosomal Recessive
Nemaline bodies, Talipes equinovarus, Scapular winging, Type 1 muscle fiber predominance, Facial ... OMIM:617336
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Type 2 muscle fiber atrophy, Facial palsy, Scoliosis, Arthrogryposis multiplex congenita OMIM:608930
Amish Nemaline Myopathy
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Shoulder flexion... ORPHA:98902
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... OMIM:123320
Myopathy, Myofibrillar, 8
Nemaline bodies, Scapular winging, Scoliosis, Joint contracture of the 5th finger, Limb muscle we... OMIM:617258
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... ORPHA:254864
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Joint contracture of the hand, Camptodactyly of toe, Broad hall... OMIM:175700
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... OMIM:300580
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... OMIM:616812
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Type 1 m... OMIM:613954
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Classic Multiminicore Myopathy
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... ORPHA:324604
Typical Nemaline Myopathy
Facial diplegia, Nemaline bodies, Kyphosis, Flexion contracture, Increased variability in muscle ... ORPHA:171436
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Intrinsic hand muscle atrophy, Type 2 muscle fiber atrophy, Hand muscle atrophy, Lower limb muscl... OMIM:601462
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Facial palsy, Skeletal muscle at... OMIM:608931
Spastic Paraplegia Type 7
Scoliosis, Lower limb muscle weakness, Ragged-red muscle fibers, Lower limb hypertonia, Upper lim... ORPHA:99013
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Kyphoscoliosis, Scoliosis, Foot dorsiflexor weakness, Clubbing of ... OMIM:619574
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Weakness of facial musculature, Centrally nucleated skeletal mus... ORPHA:596
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Scoliosis, Centrally nucleated skele... OMIM:619518
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Weakness of facial musculature, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy ORPHA:352447
Autosomal Dominant Centronuclear Myopathy
Miscarriage, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abn... ORPHA:169189
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Musc... OMIM:226670
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Fo... ORPHA:329478
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Muscle fiber atrophy, Weakness of facial musculature, EMG: myopathic abnor... OMIM:258450
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... ORPHA:401768
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Scapular winging, Ragged-red muscle fibers, Facial pa... ORPHA:254886
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Abnormal muscle fiber morphology, Hyperlordosis, Facial palsy, Sk... ORPHA:3068
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Limb muscle weakness, Myopathy OMIM:605809
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Hy... ORPHA:52430
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... OMIM:252011
Huntington Disease-Like 1
Abnormal posturing ORPHA:157941
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter OMIM:619065
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Left ventricular hypertrophy, Myopathy OMIM:540000
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Art... OMIM:616867
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Glycogen Storage Disease Due To Aldolase A Deficiency
Muscle fiber atrophy, EMG: myopathic abnormalities, Exercise-induced rhabdomyolysis, Skeletal myo... ORPHA:57
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita OMIM:254210
Immune-Mediated Necrotizing Myopathy
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Myo... ORPHA:206569
Juvenile Amyotrophic Lateral Sclerosis
Muscle fiber atrophy, Lower-limb joint contracture, Upper-limb joint contracture, Retrocollis, Sc... ORPHA:300605
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Sporadic Infantile Bilateral Striatal Necrosis
Titubation, Hypomimic face, Abnormal posturing ORPHA:225147
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Death in infancy, Flexion con... OMIM:615368
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Amyotrophic Lateral Sclerosis 21
Hand muscle weakness, Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder g... OMIM:606070
Spinocerebellar Ataxia 28
Ragged-red muscle fibers, Lower limb hypertonia OMIM:610246
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers OMIM:613662
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance OMIM:619028
Severe Congenital Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Adducted thumb, Abnormality of the diaphra... ORPHA:171430
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
EMG: myopathic abnormalities, Left ventricular hypertrophy, Ragged-red muscle fibers, Skeletal mu... OMIM:615418
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Neonatal death, Myopathy, Death in infancy OMIM:300219
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Scoliosis, Flexion contracture OMIM:619026
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing ORPHA:216866
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers OMIM:614924
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Muscle fiber atrophy, Flexion contracture, Diaphragmatic eventration, Increased variability in mu... OMIM:616866
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... ORPHA:119
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Muscle fiber necrosis, EMG: myopathic abnormalities, Increased variability in muscle fiber diamet... OMIM:157640
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Fiber type grouping, Interosseus muscle atrophy, Thenar muscle atrophy, Distal lower limb muscle ... OMIM:500013
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower limb muscle w... ORPHA:397744
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Type 2 muscle fiber atrophy, Type 1 muscle fiber predominance, Lower limb hypert... ORPHA:319514
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Talipes equinovarus, Arachnodactyly, Type 2 muscle fiber atrophy, Type 1 muscle fiber atrophy, De... OMIM:619036
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Weakness of facial musculature, Increased variability in muscle fiber diameter, Scoliosis, Elbow ... OMIM:619461
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of the extraocular muscles, Abnormalit... ORPHA:600
Vici Syndrome
Left ventricular hypertrophy, Myopathy, Abnormal posturing OMIM:242840
Mitochondrial Neurogastrointestinal Encephalomyopathy
Ragged-red muscle fibers, Abnormality of the extraocular muscles, Decreased muscle mass, Foot dor... ORPHA:298
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers ORPHA:1349
Native American Myopathy
Muscle fiber atrophy, Talipes equinovarus, Abnormality of skeletal muscle fiber size, Camptodacty... ORPHA:168572
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in mu... OMIM:613327
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Muscle fiber necrosis, Weakness of facial musculature, Scapular winging, Increased variability in... OMIM:607459
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness OMIM:609286
Synaptic Congenital Myasthenic Syndromes
Hand muscle weakness, Talipes equinovarus, Right ventricular hypertrophy, Type 2 muscle fiber atr... ORPHA:98915
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Facial palsy OMIM:606407
Congenital Myasthenic Syndrome
Kyphoscoliosis, Muscle fiber atrophy, EMG: myopathic abnormalities, Limb-girdle muscle weakness, ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Kyphoscoliosis, Muscle fiber atrophy, EMG: myopathic abnormalities, Limb-girdle muscle weakness, ... ORPHA:98914
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscle fiber atrophy, Macroglossia, Flexion contracture, Absent muscle fiber merosin, Muscular dy... ORPHA:258
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Tapered finger,... OMIM:612949
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Muscle fiber atrophy, Increased muscle lipid content ORPHA:228302
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Myopathy, Abnormality of skeletal mus... ORPHA:79083
Ehlers-Danlos Syndrome, Classic-Like
Muscle fiber splitting, Proximal amyotrophy OMIM:606408
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in muscle fi... OMIM:613150
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Snakebite Envenomation
Rhabdomyolysis, Muscle fiber necrosis ORPHA:449285
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Muscle fiber atrophy, Talipes equinovarus, Thoracic scoliosis, EMG: myopathic abnormalities, Thor... ORPHA:1900
Neuromuscular Oculoauditory Syndrome
Muscle fiber necrosis, Talipes equinovarus, EMG: myopathic abnormalities, Calf muscle hypertrophy... OMIM:618733
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Kyphoscoliosis, Flexion contracture of finger, Hypoplasia of the musculature, Ta... ORPHA:2020
Polymyositis
Abnormal muscle fiber morphology ORPHA:732
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, EMG: myopathic abnormalities, Weakness of facial musculature, ... ORPHA:502423
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
Overlap Myositis
Subluxation of the small joints of the hand, Finger swelling, Perifascicular muscle fiber atrophy... ORPHA:206572
Genetic Recurrent Myoglobinuria
Type 2 muscle fiber atrophy, Myositis, Lower limb muscle weakness, Abnormality of jaw muscles, Vi... ORPHA:99845
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Fo... OMIM:164310
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Myotonic Dystrophy 2
Sternocleidomastoid amyotrophy, Type 2 muscle fiber atrophy, Weakness of facial musculature, Gene... OMIM:602668
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Scoliosis, Distal amyotrophy OMIM:617675
Neutral Lipid Storage Myopathy
Hand muscle weakness, Rimmed vacuoles, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, ... ORPHA:98908
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle OMIM:607426
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Proximal amyotrophy OMIM:159400
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Death in infancy OMIM:619424
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, EMG: myopathic abnormalities, Quadriceps muscle weakness, Left ventricular hyper... ORPHA:254892
Idiopathic Camptocormia
EMG: myopathic abnormalities, Abnormal muscle fiber dysferlin, Myositis, Proximal spinal muscular... ORPHA:1320
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Flexion contracture, Short femur, Increased variability in muscle fiber diameter, Short humerus, ... ORPHA:17
Combined Oxidative Phosphorylation Deficiency 55
Talipes equinovarus, Genu varum, Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy OMIM:619743
Thyrotoxic Periodic Paralysis
Increased intramyocellular lipid droplets, Rhabdomyolysis, Abnormal muscle fiber morphology, Lowe... ORPHA:79102
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Muscle fiber splitting, Myopathy OMIM:611881
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Rhabdomyolysis, Ragged-red muscle fibers OMIM:124000
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Kyphoscoliosis, Talipes equinovarus, Type 1 muscle fiber predominance, Skeletal muscle atrophy, M... OMIM:614557
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Death in early adulthood, Ragged-red muscle fibers, Distal amyotrophy OMIM:603041
Unilateral Polymicrogyria
Abnormal posturing ORPHA:268943
Triglyceride Deposit Cardiomyovasculopathy
Abnormality of the shoulder girdle musculature, Abnormality of the calf musculature, Rimmed vacuo... ORPHA:565612
Mitochondrial Complex I Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Ragged-red muscle fibers, Skeletal muscle atrophy, Dea... OMIM:252010
Melas
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Myopathy ORPHA:550
Mitochondrial Dna-Associated Leigh Syndrome
Ragged-red muscle fibers ORPHA:255210
Singleton-Merten Syndrome 1
Expanded metacarpals with widened medullary cavities, Muscle fiber atrophy, Tendon rupture, Talip... OMIM:182250
Choreoacanthocytosis
Muscle fiber atrophy, Head titubation, Distal amyotrophy, Peroneal muscle atrophy, Myopathy 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 Cacnb1

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 Cacnb1.

No publications found that use IMPC mice or data for Cacnb1.

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MGI Allele Allele Type Produced
Cacnb1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cacnb1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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