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:
Cchlb1,  Cchb1

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
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... OMIM:158600
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... OMIM:605820
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... OMIM:618655
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... OMIM:601954
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Muscle fiber hypertrop... ORPHA:178464
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Rimmed vacuoles, Weakness of long fi... ORPHA:603
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Hyperlordosis, Rimmed vacuoles, Skeletal muscle atrophy, Calf muscle hypertrophy OMIM:617760
Spinal Muscular Atrophy, Infantile, James Type
Scoliosis, Lower limb muscle weakness, Type 1 muscle fiber predominance, Lumbar hyperlordosis, Di... OMIM:619042
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Facial p... OMIM:500002
Central Core Disease Of Muscle
Scoliosis, Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Typ... OMIM:117000
Myopathy, Scapulohumeroperoneal
Scoliosis, Hyperlordosis, Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fiber... OMIM:616852
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Fatty re... OMIM:618848
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Hyperlordosis, Scapular winging, Proximal amyotrophy, Myopathy, Muscle fiber splitting OMIM:618129
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Lumbar hyperlordosis, Calf muscle pseudohypertrophy, Reduced musc... ORPHA:280333
Myopathy, Distal, 1
Scoliosis, Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy, Rimme... OMIM:160500
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Myopathy, Abnorma... OMIM:615424
Nemaline Myopathy 2
Scoliosis, EMG: myopathic abnormalities, Fatty replacement of skeletal muscle, Arthrogryposis mul... OMIM:256030
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Scoliosis, Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of... OMIM:613204
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... ORPHA:457050
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Achilles t... OMIM:609200
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibrillar myopath... ORPHA:34516
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Scoliosis, Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnorma... OMIM:618654
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Centrally ... ORPHA:609
Myasthenic Syndrome, Congenital, 14
Scoliosis, Hyperlordosis, Scapular winging, Flexion contracture, Ragged-red muscle fibers, Limb-g... OMIM:616228
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial c... ORPHA:75840
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Multiminicore Myopathy
Scoliosis, Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscu... ORPHA:598
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Myopathy, Centronuclear, 1
Hyperlordosis, EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Ce... OMIM:160150
Nemaline Myopathy 4
Scapular winging, Flexion contracture, Type 1 muscle fiber predominance, Nemaline bodies, Skeleta... OMIM:609285
Muscular Dystrophy, Congenital, Merosin-Positive
Scoliosis, Congenital muscular dystrophy, Flexion contracture, Shoulder girdle muscle weakness, F... OMIM:609456
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Proximal muscle weakness in upper li... ORPHA:276435
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Zebra Body Myopathy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Torticollis, Autophagic vacuoles, N... ORPHA:97240
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Split hand, Weakness of the intrinsi... ORPHA:399086
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Muscle fiber inclusion bodies, Autophagic vacuoles... ORPHA:399058
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Moderate Multiminicore Disease With Hand Involvement
Type 1 muscle fiber predominance, Talipes equinovarus, Facial palsy, Intrinsic hand muscle atrophy ORPHA:178145
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Scoliosis, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type... ORPHA:86812
Vacuolar Neuromyopathy
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle... OMIM:601846
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... OMIM:254130
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Scoliosis, Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle muscle weakness, Ab... ORPHA:34515
Scapuloperoneal Spinal Muscular Atrophy
Scoliosis, Hyperlordosis, Scapular winging, Peroneal muscle atrophy, Amyoplasia, Kyphosis, Progre... OMIM:181405
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle muscle we... OMIM:603511
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Increased variability in muscle fiber di... OMIM:300718
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amy... OMIM:167320
Myopathy, Distal, 3
EMG: myopathic abnormalities, Split hand, Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles,... OMIM:610099
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Centrally nucleated skeletal muscle fibe... OMIM:618484
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Rimmed vacuoles, Flexion contracture OMIM:300696
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scoliosis, EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial con... ORPHA:353
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... ORPHA:488650
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Limb-girdle mu... OMIM:613818
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Rimmed vacuoles, Upp... OMIM:616924
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... OMIM:253601
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Autophagic vacuoles, Limb-girdle muscle weaknes... OMIM:608810
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Flexion contracture, Ankle flexion contracture, Increased endomysial connecti... OMIM:617072
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... OMIM:619178
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Myopathy, Proximal, With Ophthalmoplegia
Scoliosis, Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Myopathy OMIM:605637
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Scoliosis, Split hand, Flexion contracture, Nemaline bodies, Distal amyotrophy, Facial palsy, Hyp... OMIM:607684
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Type 1 muscle fiber predomi... ORPHA:597
Myopathy, Myofibrillar, 7
Scoliosis, Type 2 muscle fiber predominance, Thoracic kyphosis, Flexion contracture, Increased Z-... OMIM:617114
Myopathy, Centronuclear, 2
Scoliosis, EMG: myopathic abnormalities, Hyperlordosis, Scapular winging, Kyphosis, Flexion contr... OMIM:255200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Scoliosis, Hyperlordosis, Muscular dystrophy, Flexion contracture, Right ventricular hypertrophy,... OMIM:253700
Myopathy, Myosin Storage, Autosomal Recessive
Scoliosis, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperon... OMIM:255160
Dystonia 1, Torsion, Autosomal Dominant
Scoliosis, Hyperlordosis, Abnormal posturing, Kyphosis, Torticollis OMIM:128100
Congenital Myasthenic Syndromes With Glycosylation Defect
Scoliosis, Scapular winging, Muscle fiber tubular inclusions, Ragged-red muscle fibers, Flexion c... ORPHA:353327
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... ORPHA:171442
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture, Kypho... OMIM:607855
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Spinal muscular atrophy, In... ORPHA:1145
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Childhood-Onset Nemaline Myopathy
Scoliosis, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging, In... ORPHA:171439
Salih Myopathy
Scoliosis, Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, Calf mu... OMIM:611705
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Muscle fiber hyp... OMIM:500009
Laing Early-Onset Distal Myopathy
Scoliosis, Talipes cavus equinovarus, EMG: myopathic abnormalities, Foot dorsiflexor weakness, We... ORPHA:59135
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Pelvic girdle muscle weakness, Achilles tendon cont... OMIM:603689
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Scoliosis, Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Distal amyotrophy, Generaliz... OMIM:617519
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis, Decreased muscle mass, Type 2 muscle fiber atrophy, Myopathy, Limb musc... OMIM:603034
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis atrophy, Type 1 muscle fiber atrophy, Scoliosis, Internally nucleated skeletal muscle fi... ORPHA:98905
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber ... OMIM:612937
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Kyphosis, Proximal muscle weakness in lower limbs, P... OMIM:618138
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion co... ORPHA:178148
Nemaline Myopathy 5
Proximal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Nemaline bodies, Shoulde... OMIM:605355
Congenital Myopathy With Myasthenic-Like Onset
Scoliosis, EMG: myopathic abnormalities, Scapular winging, Type 1 muscle fiber predominance, Mult... ORPHA:424107
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Hyperlordosis, Hand muscle weakness... ORPHA:437572
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated ... OMIM:613530
Bethlem Myopathy
Reduced muscle collagen VI, EMG: myopathic abnormalities, Scoliosis, Muscular dystrophy, Interpha... ORPHA:610
Glycogen Storage Disease Ixb
Increased muscle glycogen content OMIM:261750
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles OMIM:615426
Myopathy, Congenital Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, F... OMIM:618823
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Myositis... OMIM:615422
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Scapular winging, Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystro... OMIM:616052
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Death in infancy, Neonatal death, Nemaline bodies, Death in c... OMIM:619334
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Increased variability in muscle fiber diameter OMIM:300717
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Distal Myotilinopathy
EMG: myopathic abnormalities, Multiple joint contractures, Abnormal muscle fiber myotilin, Distal... ORPHA:98911
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Congenital muscular torticollis, Elbow flexion contracture, Increased variability in m... ORPHA:536516
Minicore Myopathy With External Ophthalmoplegia
Scoliosis, Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Centrally nucleat... OMIM:255320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter OMIM:618992
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Rimmed vacuoles, Pelvic girdle muscle weakness ORPHA:263494
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Hyperlord... ORPHA:98855
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Scoliosis, Congenital muscular dystrophy, Kyphosis, Flexion contractu... OMIM:254090
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... OMIM:160565
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Cap Myopathy
Abnormal muscle fiber morphology, Lower limb muscle weakness, Lumbar hyperlordosis, Generalized a... ORPHA:171881
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hyperlordosis, Muscular dystrophy, Limb-girdle muscular dystrophy, Myopathy, Muscle fiber atrophy ORPHA:369840
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Myopathy, Ragged... ORPHA:254864
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Hyperlord... ORPHA:98863
Nemaline Myopathy 3
Scoliosis, EMG: myopathic abnormalities, Hyperlordosis, Arthrogryposis multiplex congenita, Type ... OMIM:161800
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting OMIM:609452
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Hyperlord... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Hyperlord... ORPHA:261
Postsynaptic Congenital Myasthenic Syndromes
Scoliosis, EMG: myopathic abnormalities, Thoracic kyphoscoliosis, Hip flexor weakness, Weakness o... ORPHA:98913
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Scoliosis, Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Marinesco-Sjogren Syndrome
Scoliosis, Short metatarsal, Kyphosis, Flexion contracture, Centrally nucleated skeletal muscle f... OMIM:248800
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Flexion contracture, Facial palsy, Kyphoscoliosis, Increased varia... OMIM:616470
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
EMG: myopathic abnormalities, Generalized amyotrophy, Ragged-red muscle fibers, Facial diplegia, ... OMIM:609560
Autosomal Recessive Centronuclear Myopathy
Hyperlordosis, Scapular winging, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber ... ORPHA:169186
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Scapular winging, Hypoglycosylation of alpha-dystroglycan, Proximal muscle weakness... ORPHA:352479
Myopathy, Congenital, With Fiber-Type Disproportion
Scoliosis, Centrally nucleated skeletal muscle fibers, Lumbar hyperlordosis, Type 1 fibers relati... OMIM:255310
Intermediate Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Flexion contracture, Type 1 mus... ORPHA:171433
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder fle... ORPHA:98902
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Scoliosis, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Multiple joi... ORPHA:486815
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Scoliosis, Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Facial palsy OMIM:608930
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... OMIM:123320
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Classic Multiminicore Myopathy
Scoliosis, Increased muscle lipid content, Congenital muscular dystrophy, Generalized amyotrophy,... ORPHA:324604
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Preaxial hand polydactyly, Postaxial hand polydactyly, Broad th... OMIM:175700
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Myopathy, Myofibrillar, 8
Scoliosis, Scapular winging, Centrally nucleated skeletal muscle fibers, Joint contracture of the... OMIM:617258
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, Frontalis muscle weakness, Facial ... OMIM:300580
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy OMIM:611556
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content OMIM:610717
Rigid Spine Muscular Dystrophy 1
Scoliosis, Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Flexion contractu... OMIM:602771
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Typical Nemaline Myopathy
Scoliosis, Genu valgum, Hyperlordosis, Arthrogryposis multiplex congenita, Facial diplegia, Kypho... ORPHA:171436
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Decreased muscle mass, Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy, Facial pa... OMIM:608931
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Adult-Onset Distal Myopathy Due To Vcp Mutation
EMG: myopathic abnormalities, Scapular winging, Intrinsic hand muscle atrophy, Weakness of the in... ORPHA:329478
Spastic Paraplegia Type 7
Scoliosis, Lower limb hypertonia, Lower limb muscle weakness, Ragged-red muscle fibers, Upper lim... ORPHA:99013
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Generalized amyotrophy, Myopathy, Ragged-red muscle fibers, Weakness of facial musculature ORPHA:352447
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter OMIM:619065
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Type 1 muscle fiber atrophy, Achilles tendon contracture, Decreased cervical spine flexion due to... OMIM:310300
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Scapular winging, Facial palsy, Myopathy, Ragged-red muscle fibers, Muscle ... ORPHA:254886
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Increased vari... ORPHA:401768
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Myopathy, Limb muscle weakness OMIM:605809
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, EMG: myopathic abnormalities, Generalized amyotrophy, Rimmed vacuoles, Fatty repla... ORPHA:52430
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Abnormal muscle fiber morphology, Facial palsy, Skeletal muscle atrophy, Clinodact... ORPHA:3068
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets ORPHA:681
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Generalized amyotrophy, Facial palsy, Muscle fiber necrosis, Ragged... OMIM:258450
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita OMIM:254210
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Huntington Disease-Like 1
Abnormal posturing ORPHA:157941
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Viral infection-induced rhabdomyolysis, Exer... ORPHA:57
Immune-Mediated Necrotizing Myopathy
EMG: myopathic abnormalities, Scapular winging, Proximal muscle weakness in lower limbs, Skeletal... ORPHA:206569
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy OMIM:540000
Coenzyme Q10 Deficiency, Primary, 4
Increased intramyocellular lipid droplets OMIM:612016
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Juvenile Amyotrophic Lateral Sclerosis
Scoliosis, Contractures of the joints of the lower limbs, Head titubation, Distal amyotrophy, Ske... ORPHA:300605
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Limb-gir... OMIM:616812
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Type 2 muscle fiber atrophy OMIM:601462
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Skeletal muscle... OMIM:616867
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Sporadic Infantile Bilateral Striatal Necrosis
Titubation, Abnormal posturing, Hypomimic face ORPHA:225147
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Death in infancy, Congenital con... OMIM:615368
Severe Congenital Nemaline Myopathy
Arthrogryposis multiplex congenita, Facial diplegia, Flexion contracture, Type 1 muscle fiber pre... ORPHA:171430
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance OMIM:619028
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers OMIM:614924
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber pre... ORPHA:169189
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Pelvic girdle muscle weakness, Increased variability in muscle... ORPHA:119
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing ORPHA:216866
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Rhabdomyolysis, Facial palsy, Skeletal muscle atrophy, Muscle fiber... OMIM:157640
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Fiber type grouping, Thenar muscle atrophy, Distal lower limb amyotro... OMIM:500013
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Scoliosis, Flexion contracture, Increased variability in muscle fiber diameter OMIM:619026
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Lower limb muscle weakness, Myopathy, Fatty replacement of skeletal... ORPHA:397744
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Death in infancy, Congenital contr... OMIM:619036
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Combined Oxidative Phosphorylation Defect Type 13
Lower limb hypertonia, Type 1 muscle fiber predominance, Type 2 muscle fiber atrophy, Hip contrac... ORPHA:319514
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Distal upper limb amyotrophy, Shoulder girdle muscle weak... ORPHA:600
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Diaphragmatic e... OMIM:616866
Vici Syndrome
Myopathy, Left ventricular hypertrophy, Abnormal posturing OMIM:242840
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyolysi... ORPHA:368
Spastic Ataxia 5, Autosomal Recessive
Increased intramyocellular lipid droplets, Skeletal muscle atrophy OMIM:614487
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Ragged-red muscle fibers, Abnormality of the extraocular muscles, Foot dor... ORPHA:298
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness OMIM:609286
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Muscle fiber atrophy, Increased muscle lipid content ORPHA:228302
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Ragged-red muscle fibers, Distal amyotrophy, Death in early adulthood OMIM:603041
Native American Myopathy
Arthrogryposis multiplex congenita, Camptodactyly, Congenital contracture, Abnormality of skeleta... ORPHA:168572
Synaptic Congenital Myasthenic Syndromes
Scoliosis, Hand muscle weakness, Scapular winging, Type 1 muscle fiber predominance, Type 2 muscl... ORPHA:98915
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers ORPHA:1349
Pparg-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Abnormal... ORPHA:79083
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Shoulder girdle muscle weakness, Decreased m... ORPHA:263297
Congenital Myasthenic Syndrome
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Distal lower limb muscle weakne... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Distal lower limb muscle weakne... ORPHA:98914
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, EMG: myopathic abnormalities, Scoliosis, Increased intramyocel... ORPHA:502423
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Scoliosis, Hyperlordosis, Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Absent... ORPHA:258
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Scoliosis, Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Death in infancy, Conge... OMIM:613150
Snakebite Envenomation
Rhabdomyolysis, Muscle fiber necrosis ORPHA:449285
Ehlers-Danlos Syndrome, Classic-Like
Muscle fiber splitting, Proximal amyotrophy OMIM:606408
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ragged-red muscle fibers, Muscle fiber necrosis, Increased variability in muscle fiber diameter OMIM:607459
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
EMG: myopathic abnormalities, Wrist drop, Decreased muscle mass, Thoracic kyphoscoliosis, Thoraci... ORPHA:1900
Myopathy With Lactic Acidosis, Hereditary
Myopathy, Rhabdomyolysis, Increased intramyocellular lipid droplets OMIM:255125
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Myopathy, Flexion contracture, Skeletal muscle atrophy ORPHA:367
Neuromuscular Oculoauditory Syndrome
EMG: myopathic abnormalities, Wrist flexion contracture, Knee flexion contracture, Muscle fiber n... OMIM:618733
Congenital Fiber-Type Disproportion Myopathy
Scoliosis, Type 1 muscle fiber atrophy, Hyperlordosis, Flexion contracture of finger, Flexion con... ORPHA:2020
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Autophagic vacuoles, Distal amyotrophy, Facial palsy, Rimmed vacuol... OMIM:164310
Polymyositis
Abnormal muscle fiber morphology ORPHA:732
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Increased muscle lipid content, Long toe, Knee flexion contracture, Elbow flexion co... OMIM:608836
Neutral Lipid Storage Myopathy
Fatty replacement of skeletal muscle, Hand muscle weakness, Increased intramyocellular lipid drop... ORPHA:98908
Amyotrophic Lateral Sclerosis 21
Shoulder girdle muscle weakness, Rimmed vacuoles OMIM:606070
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers OMIM:607426
Glycogen Storage Disease Vii
Increased muscle glycogen content OMIM:232800
Multiple Acyl-Coa Dehydrogenase Deficiency
Hyperlordosis, Scapular winging, Increased intramyocellular lipid droplets, Rhabdomyolysis, Skele... ORPHA:26791
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Proximal amyotrophy OMIM:159400
Myopathy, Mitochondrial, And Ataxia
Scoliosis, Distal amyotrophy, Increased variability in muscle fiber diameter OMIM:617675
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Myotonic Dystrophy 2
Type 2 muscle fiber atrophy OMIM:602668
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short femur, Increased intramyocellular lipid droplets, Polydactyly, Flexion contracture, Rhabdom... ORPHA:17
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Lower limb muscle we... ORPHA:79102
Autosomal Dominant Progressive External Ophthalmoplegia
EMG: myopathic abnormalities, Hypomimic face, Ragged-red muscle fibers, Quadriceps muscle weaknes... ORPHA:254892
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Rhabdomyolysis OMIM:124000
Triglyceride Deposit Cardiomyovasculopathy
Abnormality of the shoulder girdle musculature, Increased muscle lipid content, Skeletal myopathy... ORPHA:565612
Neutral Lipid Storage Disease With Ichthyosis
Shoulder girdle muscle weakness, EMG: myopathic abnormalities, Myopathy, Increased intramyocellul... ORPHA:98907
Unilateral Polymicrogyria
Abnormal posturing ORPHA:268943
Melas
Ragged-red muscle fibers, Myopathy, Abnormal mitochondria in muscle tissue ORPHA:550
Mitochondrial Dna-Associated Leigh Syndrome
Ragged-red muscle fibers ORPHA:255210
Singleton-Merten Syndrome 1
Genu valgum, Expanded metacarpals with widened medullary cavities, Tendon rupture, Expanded metat... OMIM:182250
Choreoacanthocytosis
Peroneal muscle atrophy, Head titubation, Distal amyotrophy, Myopathy, Muscle fiber atrophy 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
Cacnb1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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