Gene Summary

Name:
serine/arginine-rich protein specific kinase 3
Synonyms:
Mssk1,  Stk23

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
megacolon Srpk3tm1b(KOMP)Wtsi HEM Early adult 0.00
decreased grip strength Srpk3tm1b(KOMP)Wtsi HOM   Early adult 2.17×10-07
increased monocyte cell number Srpk3tm1b(KOMP)Wtsi HEM   Early adult 2.73×10-05
abnormal cecum morphology Srpk3tm1b(KOMP)Wtsi HEM Early adult 0.00
decreased grip strength Srpk3tm1b(KOMP)Wtsi HEM   Early adult 7.29×10-13

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images hemizygote 100% (1 of 1)
Vas deferens  Section images hemizygote 100% (1 of 1)
Adrenal gland N/A hemizygote 0.0% (0 of 1)
Adrenal gland N/A homozygote 0.0% (0 of 1)
Aorta N/A hemizygote 0.0% (0 of 1)
Aorta N/A homozygote 0.0% (0 of 1)
Blood N/A hemizygote 0.0% (0 of 1)
Blood N/A homozygote 0.0% (0 of 1)
Bone marrow N/A hemizygote 0.0% (0 of 1)
Bone marrow N/A homozygote 0.0% (0 of 1)
Brain N/A hemizygote Not available
Brain N/A homozygote Not available
Brainstem N/A hemizygote Not available
Brainstem N/A homozygote Not available
Brown adipose tissue N/A hemizygote 0.0% (0 of 1)
Brown adipose tissue N/A homozygote 0.0% (0 of 1)
Cartilage tissue N/A hemizygote Not available
Cartilage tissue N/A homozygote Not available
Cecum N/A hemizygote 0.0% (0 of 1)
Cecum N/A homozygote 0.0% (0 of 1)
Cerebellum N/A hemizygote 0.0% (0 of 1)
Cerebellum N/A homozygote 0.0% (0 of 1)
Cerebral cortex N/A hemizygote Not available
Cerebral cortex N/A homozygote Not available
Chest bone N/A hemizygote Not available
Chest bone N/A homozygote Not available
Colon N/A hemizygote 0.0% (0 of 1)
Colon N/A homozygote 0.0% (0 of 1)
Diaphragm N/A hemizygote 0.0% (0 of 1)
Diaphragm N/A homozygote 0.0% (0 of 1)
Duodenum N/A hemizygote 0.0% (0 of 1)
Duodenum N/A homozygote 0.0% (0 of 1)
Epididymis N/A homozygote Not available
Esophagus N/A hemizygote 0.0% (0 of 1)
Esophagus N/A homozygote 0.0% (0 of 1)
Eye N/A hemizygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Gall bladder N/A hemizygote Not available
Gall bladder N/A homozygote Not available
Gonadal fat pad N/A hemizygote 0.0% (0 of 1)
Gonadal fat pad N/A homozygote 0.0% (0 of 1)
Harderian gland N/A hemizygote 0.0% (0 of 1)
Harderian gland N/A homozygote 0.0% (0 of 1)
Heart N/A hemizygote Not available
Heart N/A homozygote Not available
Hindlimb N/A hemizygote Not available
Hindlimb N/A homozygote Not available
Hippocampus N/A hemizygote Not available
Hippocampus N/A homozygote Not available
Hypothalamus N/A hemizygote Not available
Hypothalamus N/A homozygote Not available
Ileum N/A hemizygote 0.0% (0 of 1)
Ileum N/A homozygote Not available
Jejunum N/A hemizygote 0.0% (0 of 1)
Jejunum N/A homozygote Not available
Kidney N/A hemizygote 0.0% (0 of 1)
Kidney N/A homozygote 0.0% (0 of 1)
Large intestine N/A hemizygote Not available
Large intestine N/A homozygote Not available
Liver N/A hemizygote 0.0% (0 of 1)
Liver N/A homozygote 0.0% (0 of 1)
Lower urinary tract N/A hemizygote Not available
Lower urinary tract N/A homozygote Not available
Lung N/A hemizygote 0.0% (0 of 1)
Lung N/A homozygote 0.0% (0 of 1)
Lymph node N/A hemizygote Not available
Lymph node N/A homozygote Not available
Mammary gland N/A hemizygote Not available
Mammary gland N/A homozygote 0.0% (0 of 1)
Mesenteric adipose tissue N/A hemizygote 0.0% (0 of 1)
Mesenteric adipose tissue N/A homozygote 0.0% (0 of 1)
Mesenteric lymph node N/A hemizygote 0.0% (0 of 1)
Mesenteric lymph node N/A homozygote Not available
Midbrain N/A hemizygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Olfactory lobe N/A hemizygote 0.0% (0 of 1)
Olfactory lobe N/A homozygote 0.0% (0 of 1)
Ovary N/A hemizygote Not available
Ovary N/A homozygote 0.0% (0 of 1)
Oviduct N/A hemizygote Not available
Oviduct N/A homozygote 0.0% (0 of 1)
Pancreas N/A hemizygote 0.0% (0 of 1)
Pancreas N/A homozygote 0.0% (0 of 1)
Parathyroid gland N/A hemizygote 0.0% (0 of 1)
Parathyroid gland N/A homozygote Not available
Parotid gland N/A hemizygote 0.0% (0 of 1)
Parotid gland N/A homozygote 0.0% (0 of 1)
Penis N/A hemizygote 0.0% (0 of 1)
Penis N/A homozygote Not available
Peripheral nervous system N/A hemizygote Not available
Peripheral nervous system N/A homozygote Not available
Peyer's patch N/A hemizygote Not available
Peyer's patch N/A homozygote Not available
Pituitary gland N/A hemizygote 0.0% (0 of 1)
Pituitary gland N/A homozygote 0.0% (0 of 1)
Prostate gland N/A hemizygote 0.0% (0 of 1)
Prostate gland N/A homozygote Not available
Quadriceps N/A hemizygote 0.0% (0 of 1)
Quadriceps N/A homozygote 0.0% (0 of 1)
Sciatic nerve N/A hemizygote 0.0% (0 of 1)
Sciatic nerve N/A homozygote 0.0% (0 of 1)
Skeletal muscle N/A hemizygote Not available
Skeletal muscle N/A homozygote Not available
Skin N/A hemizygote 0.0% (0 of 1)
Skin N/A homozygote 0.0% (0 of 1)
Small intestine N/A hemizygote Not available
Small intestine N/A homozygote Not available
Spinal cord N/A hemizygote 0.0% (0 of 1)
Spinal cord N/A homozygote 0.0% (0 of 1)
Spleen N/A hemizygote 0.0% (0 of 1)
Spleen N/A homozygote 0.0% (0 of 1)
Stomach pyloric region N/A hemizygote Not available
Stomach pyloric region N/A homozygote Not available
Stomach N/A hemizygote 0.0% (0 of 1)
Stomach N/A homozygote 0.0% (0 of 1)
Striatum N/A hemizygote Not available
Striatum N/A homozygote Not available
Sublingual gland N/A hemizygote 0.0% (0 of 1)
Sublingual gland N/A homozygote 0.0% (0 of 1)
Submandibular gland N/A hemizygote 0.0% (0 of 1)
Submandibular gland N/A homozygote 0.0% (0 of 1)
Testis N/A hemizygote 0.0% (0 of 1)
Testis N/A homozygote Not available
Thymus N/A hemizygote 0.0% (0 of 1)
Thymus N/A homozygote 0.0% (0 of 1)
Thyroid gland N/A hemizygote 0.0% (0 of 1)
Thyroid gland N/A homozygote Not available
Tongue N/A hemizygote 0.0% (0 of 1)
Tongue N/A homozygote 0.0% (0 of 1)
Trachea N/A hemizygote 0.0% (0 of 1)
Trachea N/A homozygote 0.0% (0 of 1)
Trigeminal V nerve N/A hemizygote 0.0% (0 of 1)
Trigeminal V nerve N/A homozygote 0.0% (0 of 1)
Urinary bladder N/A hemizygote 0.0% (0 of 1)
Urinary bladder N/A homozygote 0.0% (0 of 1)
Uterus N/A hemizygote Not available
Uterus N/A homozygote 0.0% (0 of 1)
Vagina N/A hemizygote Not available
Vagina N/A homozygote 0.0% (0 of 1)
Vas deferens N/A homozygote Not available
Vascular system N/A hemizygote Not available
Vascular system N/A homozygote Not available
Vesicular gland N/A hemizygote 0.0% (0 of 1)
Vesicular gland N/A homozygote Not available
White adipose tissue N/A hemizygote Not available
White adipose tissue N/A homozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Srpk3 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 Srpk3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Spinal Muscular Atrophy, Scapuloperoneal
Spinal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy OMIM:271220
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
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
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Centrally ... ORPHA:609
Vacuolar Neuromyopathy
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle... OMIM:601846
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... OMIM:605820
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
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated ... OMIM:613530
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:182970
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Central Core Disease Of Muscle
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... OMIM:117000
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... OMIM:160150
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... OMIM:618655
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
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
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Fatty re... OMIM:618848
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... OMIM:619178
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Myopathy, Congenital Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, F... OMIM:618823
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... OMIM:601954
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
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Neuropathy, Painful
Lower limb muscle weakness, Skeletal muscle atrophy OMIM:256870
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Rimmed vacuoles, Weakness of long fi... ORPHA:603
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Nemaline Myopathy 6
Myopathy, Nemaline bodies, Limb muscle weakness OMIM:609273
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Myopathy, Myosin Storage, Autosomal Recessive
Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Centrally nucleated skeletal musc... OMIM:255160
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibrillar myopath... ORPHA:34516
Salih Myopathy
Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, Calf muscle hypert... OMIM:611705
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Facial p... OMIM:500002
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Achilles t... OMIM:609200
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Tibialis muscle weakness, ... ORPHA:178400
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Flexion contracture, Ankle flexion contracture, Increased endomysial connecti... OMIM:617072
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... ORPHA:457050
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... OMIM:254130
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
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Colitis, B lympho... OMIM:619281
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles OMIM:615426
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... OMIM:253601
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congenita, Flexion contractu... OMIM:618484
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Hand muscle weakness, Scapular wing... ORPHA:437572
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystrog... ORPHA:280333
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle atrophy OMIM:208100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Centrally nucleated skeletal... OMIM:255320
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Scapular winging, Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystro... OMIM:616052
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle muscle we... OMIM:603511
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of skeletal m... OMIM:613204
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Myopathy, Scapular winging, Muscle fiber splitting, Proximal amyotrophy OMIM:618129
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Increased variability in muscle fiber diameter OMIM:300717
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Limb-gir... OMIM:616812
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Myopathy, Centronuclear, 2
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Centrally nucleated skeletal... OMIM:255200
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Proximal muscle weakness in upper li... ORPHA:276435
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Increased vari... ORPHA:401768
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotrophy, Hip contracture,... OMIM:619042
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Helicobacter pylori infection, Lymphopenia, Neutropenia ORPHA:2688
Zebra Body Myopathy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Torticollis, Autophagic vacuoles, N... ORPHA:97240
Nemaline Myopathy 5
Proximal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Nemaline bodies, Shoulde... OMIM:605355
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Autophagic vacuoles, Limb-girdle muscle weaknes... OMIM:608810
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscl... ORPHA:399086
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy OMIM:617760
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Masticatory Muscles, Hypertrophy Of
Skeletal muscle hypertrophy OMIM:154850
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Multiple joint contract... ORPHA:486815
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Muscle fiber inclusion bodies, Autophagic vacuoles... ORPHA:399058
Myopathy, Distal, 3
EMG: myopathic abnormalities, Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, Joint contr... OMIM:610099
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Leukopenia, Refractory anemia OMIM:616871
Myopathy, Distal, 1
Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy, Rimmed vacuoles,... OMIM:160500
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Distal Nebulin Myopathy
EMG: myopathic abnormalities, Weakness of the intrinsic hand muscles, Nemaline bodies, Sternoclei... ORPHA:399103
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... ORPHA:488650
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Rimmed vacuoles, Flexion contracture OMIM:300696
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f... OMIM:613818
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Rimmed vacuoles, Upp... OMIM:616924
Distal Myotilinopathy
EMG: myopathic abnormalities, Multiple joint contractures, Abnormal muscle fiber myotilin, Distal... ORPHA:98911
Myopathy, Congenital, With Fiber-Type Disproportion
Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal muscle fibers, ... OMIM:255310
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, G... ORPHA:169186
Muscular Dystrophy, Congenital, Merosin-Positive
Congenital muscular dystrophy, Flexion contracture, Shoulder girdle muscle weakness, Facial palsy... OMIM:609456
Moderate Multiminicore Disease With Hand Involvement
Type 1 muscle fiber predominance, Facial palsy, Intrinsic hand muscle atrophy ORPHA:178145
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Joint contracture of the 5th finger... OMIM:617258
Nemaline Myopathy 4
Scapular winging, Flexion contracture, Type 1 muscle fiber predominance, Nemaline bodies, Skeleta... OMIM:609285
Glycogen Storage Disease Ixb
Increased muscle glycogen content OMIM:261750
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle muscle weakness, Abnormality o... ORPHA:34515
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... OMIM:123320
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Pelvic girdle muscle weakness, Achilles tendon cont... OMIM:603689
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscular dystrop... ORPHA:598
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting OMIM:609452
Marinesco-Sjogren Syndrome
Flexion contracture, Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle... OMIM:248800
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber ... OMIM:612937
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Scapular winging, Hypoglycosylation of alpha-dystroglycan, Proximal muscle weakness... ORPHA:352479
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder fle... ORPHA:98902
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy OMIM:611556
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Rimmed vacuoles, Pelvic girdle muscle weakness ORPHA:263494
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Muscle fiber hyp... OMIM:500009
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Juvenile colonic polyposis, Colon ... OMIM:610069
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber pre... ORPHA:169189
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture OMIM:615368
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... ORPHA:171442
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... OMIM:160565
Myasthenic Syndrome, Congenital, 14
Limb-girdle muscle weakness, Ragged-red muscle fibers, Scapular winging, Flexion contracture OMIM:616228
Nemaline Myopathy 2
EMG: myopathic abnormalities, Fatty replacement of skeletal muscle, Arthrogryposis multiplex cong... OMIM:256030
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
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon OMIM:613711
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Chronic Intestinal Pseudoobstruction
Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation, Abnormal platelet morpho... ORPHA:2978
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Myopathy, Proximal, With Ophthalmoplegia
Myopathy, Muscle fiber inclusion bodies, Scapular winging, Congenital contracture OMIM:605637
Colonic Atresia
Colonic atresia OMIM:303650
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Right ventricular hypertrophy, Calf muscle pseudohypertr... OMIM:253700
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mu... OMIM:618138
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial connective tis... ORPHA:353
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Abnormal la... ORPHA:2198
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Flexion contracture, Facial palsy, Increased variability in muscle... OMIM:616470
Congenital Muscular Dystrophy, Ullrich Type
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... ORPHA:75840
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Myopathy, Ragged... ORPHA:254864
Congenital Myopathy With Myasthenic-Like Onset
EMG: myopathic abnormalities, Scapular winging, Type 1 muscle fiber predominance, Multiple joint ... ORPHA:424107
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Laing Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicularis oculi muscle, Ab... ORPHA:59135
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Cleft pala... OMIM:612541
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Type 1 muscle fiber predomi... ORPHA:597
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Type 1 muscle fiber atrophy, Achilles tendon contracture, Decreased cervical spine flexion due to... OMIM:310300
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
EMG: myopathic abnormalities, Generalized amyotrophy, Ragged-red muscle fibers, Facial diplegia, ... OMIM:609560
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Spinal muscular atrophy, In... ORPHA:1145
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Childhood-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging, Increased mus... ORPHA:171439
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis atrophy, Type 1 muscle fiber atrophy, Internally nucleated skeletal muscle fibers, Muscu... ORPHA:98905
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Muscle fiber tubular inclusions, Ragged-red muscle fibers, Flexion contracture,... ORPHA:353327
Hirschsprung Disease, Susceptibility To, 1
Enterocolitis, Aganglionic megacolon, Abnormality of enteric ganglion morphology OMIM:142623
Nk-Cell Enteropathy
Gastric ulcer, Increased T cell count, Hematochezia, Gastroesophageal reflux, Abnormality of the ... ORPHA:263665
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Myopathy, Myofibrillar, 7
Type 2 muscle fiber predominance, Flexion contracture, Increased Z-disc width, Achilles tendon co... OMIM:617114
Bethlem Myopathy
Reduced muscle collagen VI, EMG: myopathic abnormalities, Limb-girdle muscle weakness, Camptodact... ORPHA:610
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Anal atresia, Aganglionic megacolon OMIM:235760
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Peroneal muscle atrophy, Amyoplasia, Progressive distal muscular atrophy, Scapu... OMIM:181405
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Viral infection-induced rhabdomyolysis, Exer... ORPHA:57
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Pelvic girdle muscle weakness, Increased variability in muscle... ORPHA:119
Adult-Onset Distal Myopathy Due To Vcp Mutation
EMG: myopathic abnormalities, Scapular winging, Intrinsic hand muscle atrophy, Weakness of the in... ORPHA:329478
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets ORPHA:681
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content OMIM:610717
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Myopathy, Muscular dystrophy, Muscle fiber atrophy, Limb-girdle muscular dystrophy ORPHA:369840
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
Microcolon
Microcolon OMIM:251400
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Flexion contracture, ... ORPHA:178148
Cap Myopathy
Abnormal muscle fiber morphology, Lower limb muscle weakness, Generalized amyotrophy, Facial pals... ORPHA:171881
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98855
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
Immune-Mediated Necrotizing Myopathy
EMG: myopathic abnormalities, Scapular winging, Proximal muscle weakness in lower limbs, Skeletal... ORPHA:206569
Meconium Ileus
Meconium ileus, Microcolon OMIM:614665
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Classic Multiminicore Myopathy
Increased muscle lipid content, Congenital muscular dystrophy, Generalized amyotrophy, Multiple j... ORPHA:324604
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Lower limb muscle weakness, Myopathy, Fatty replacement of skeletal... ORPHA:397744
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Congenital muscular dystrophy, Flexion contracture, Type 1 muscle fib... OMIM:254090
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:261
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Scapular winging, Facial palsy, Myopathy, Ragged-red muscle fibers, Muscle ... ORPHA:254886
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Nemaline bodies, Increased variability in muscle fiber diameter OMIM:619334
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy OMIM:540000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Generalized amyotrophy, Facial palsy, Muscle fiber necrosis, Ragged... OMIM:258450
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Weakness of facial musculature ORPHA:352447
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Lower limb hypertonia, Lower limb muscle weakness, Upper limb muscle we... ORPHA:99013
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Distal upper limb amyotrophy, Shoulder girdle muscle weak... ORPHA:600
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Muscle fiber atrophy, Increased muscle lipid content ORPHA:228302
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Generalized amyotrophy, Rimmed vacuoles, Fatty replacement of skele... ORPHA:52430
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Joint contracture of the hand, Camptodactyly of toe OMIM:175700
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Villous atrophy, Aganglionic megacolon, Steatorrhea, Volvulus, Abno... ORPHA:95427
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Rhabdomyolysis, Facial palsy, Skeletal muscle atrophy, Muscle fiber... OMIM:157640
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Proximal amyotrophy OMIM:159400
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers OMIM:614924
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon OMIM:613013
Radiation Proctitis
Rectal fistula, Hematochezia, Abnormal rectum morphology, Abnormality of gastrointestinal vascula... ORPHA:70475
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Facial palsy, Skeletal muscle atrophy ORPHA:3068
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Diaphragmatic e... OMIM:616866
Ehlers-Danlos Syndrome, Classic-Like
Muscle fiber splitting, Proximal amyotrophy OMIM:606408
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness OMIM:609286
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers ORPHA:1349
Amyotrophic Lateral Sclerosis 21
Shoulder girdle muscle weakness, Rimmed vacuoles OMIM:606070
Pparg-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Abnormal... ORPHA:79083
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Ragged-red muscle fibers, Abnormality of the extraocular muscles, Foot dor... ORPHA:298
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 lower limbs, Distal amyotrophy, Skeletal muscle atrophy, Contra... ORPHA:300605
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Autophagic vacuoles, Distal amyotrophy, Facial palsy, Rimmed vacuol... OMIM:164310
Visceral Myopathy 1
Megaduodenum, Dysphagia, Aganglionic megacolon, Intestinal pseudo-obstruction, Microcolon OMIM:155310
Neutral Lipid Storage Myopathy
Fatty replacement of skeletal muscle, Hand muscle weakness, Increased intramyocellular lipid drop... ORPHA:98908
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Myopathy, Flexion contracture, Skeletal muscle atrophy ORPHA:367
Snakebite Envenomation
Rhabdomyolysis, Muscle fiber necrosis ORPHA:449285
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Microangiopathic hemolytic anemia, Intestinal perforation, Intussusception, Reticu... ORPHA:90038
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Ragged-red muscle fibers, Distal amyotrophy OMIM:603041
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Hypoperistalsis, Abnormality of the gastrointestinal tract, Microcolon, Intestinal malrotation ORPHA:2241
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers OMIM:607426
Neuromuscular Oculoauditory Syndrome
EMG: myopathic abnormalities, Wrist flexion contracture, Muscle fiber necrosis, Knee flexion cont... OMIM:618733
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Native American Myopathy
Arthrogryposis multiplex congenita, Camptodactyly, Congenital contracture, Abnormality of skeleta... ORPHA:168572
Scleroderma
Abnormal stomach morphology, Intestinal bleeding, Abnormality of the gastrointestinal tract, Abno... ORPHA:801
Polymyositis
Abnormal muscle fiber morphology ORPHA:732
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
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Triglyceride Deposit Cardiomyovasculopathy
Abnormality of the shoulder girdle musculature, Increased muscle lipid content, Skeletal myopathy... ORPHA:565612
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Absent muscle fiber merosin, Fle... ORPHA:258
Fg Syndrome Type 1
Gastroesophageal reflux, Malrotation of colon, Anal atresia, Abnormal large intestine morphology,... ORPHA:93932
Systemic Sclerosis
Abnormal stomach morphology, Intestinal bleeding, Abnormality of the gastrointestinal tract, Dysp... ORPHA:90291
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Lower limb muscle we... ORPHA:79102
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Microcolon, Ileus, Splenomegaly ORPHA:163746
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Rhabdomyolysis OMIM:124000
Autosomal Dominant Progressive External Ophthalmoplegia
EMG: myopathic abnormalities, Hypomimic face, Ragged-red muscle fibers, Quadriceps muscle weaknes... ORPHA:254892
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased intramyocellular lipid droplets, Flexion contracture, Rhabdomyolysis, Skeletal muscle a... ORPHA:17
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Microcolon, Ileal atresia OMIM:619351
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Hamartomatous polyposis, Narrow palate, Intestinal polyposis ORPHA:109
Heart Defects, Congenital, And Other Congenital Anomalies
Microcolon, Intestinal malrotation, Colon perforation OMIM:600001
Restrictive Dermopathy
Microcolon, Submucous cleft hard palate ORPHA:1662
Singleton-Merten Syndrome 1
Tendon rupture, Muscle fiber atrophy OMIM:182250

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 Srpk3

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 Srpk3.

No publications found that use IMPC mice or data for Srpk3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Srpk3tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice, Tissue
Srpk3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter