banner
Genes Phenotypes Help, News, Blog

Gene: Cmya5 MGI:1923719

Log in to follow

Gene Summary

Name:
cardiomyopathy associated 5
Synonyms:
2310076E21Rik,  2310076E16Rik,  Myospryn

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

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

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.

X-ray

XRay Images Skull Lateral Orientation

2 Images

View images
X-ray

XRay Images Forepaw

2 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

2 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

2 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

2 Images

View images
Eye Morphology

Images Slit Lamp

2 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

View images

Human diseases caused by Cmya5 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 Cmya5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Facial palsy, Tremor, Car... OMIM:619424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Facial palsy, Flexion contracture, Abnormal left ventricular functi... OMIM:613155
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, First degree atrioventricular... OMIM:115197
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargement, Cardiomegaly, L... ORPHA:57777
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Cerebellar vermis hypoplasia, Femoral retroversion, Knee fl... OMIM:616531
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Stiff-Person Syndrome
Exaggerated startle response, Diabetes mellitus, Tachycardia, Opisthotonus, Depression, Proximal ... OMIM:184850
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Limb joint contracture, Tremor, Cerebellar hypo... OMIM:620327
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agenesis of cerebellar vermis, Hypoplasia of the pons, Cerebellar hypoplasia, Muscular dystrophy,... OMIM:613153
Familial Isolated Restrictive Cardiomyopathy
Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventricular arrhythmi... ORPHA:75249
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypert... OMIM:616028
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
3-Methylglutaconic Aciduria, Type Iv
Biventricular hypertrophy, Cerebellar dysplasia, Subvalvular aortic stenosis OMIM:250951
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... ORPHA:555874
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus, Paraspinal muscle hypertrophy, Emotional labilit... ORPHA:3198
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Exaggerated startle response, Dilated cardiomyopathy, Flexion contractur... OMIM:253800
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav... ORPHA:3077
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Ventricular septal defect, Bicuspid aortic valve, Abnormal repetitive manneris... ORPHA:500159
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... ORPHA:1677
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... ORPHA:99103
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Decreased serum leptin, Flexion contracture, Right bundle branch block, ... OMIM:614008
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Hypoplasia of the thymus, Endocardial fibroelastosis, Restrictive cardiomyo... OMIM:619313
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Myocardial infarction, Myocarditis, Pancreatic endocrine tumor, Ad... ORPHA:892
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Hypoplasia of the pons, Cerebellar hypoplasia, Muscular dystrophy, Cerebell... OMIM:615181
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... OMIM:618056
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ... OMIM:168000
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Mitr... ORPHA:555877
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula... OMIM:605373
Tay-Sachs Disease
Cerebellar atrophy, Skeletal muscle atrophy, Exaggerated startle response, Hip flexor weakness, Q... ORPHA:845
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist... ORPHA:70591
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia ORPHA:309246
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Hypoplasia ... OMIM:615574
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
47,Xyy Syndrome
Hyperactivity, Impulsivity, Increased circulating gonadotropin level, Finger clinodactyly, Attent... ORPHA:8
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Joint contracture OMIM:616881
Sandhoff Disease
Skeletal muscle atrophy, Exaggerated startle response, Orthostatic hypotension, Cardiomegaly, Mac... OMIM:268800
Pure Autonomic Failure
Abnormality of circulating catecholamine level, Syncope, Orthostatic hypotension ORPHA:441
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Distal lower limb amyotrophy, Exaggerated startle response, Multiple joint contractures, Distal a... ORPHA:320406
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Flexion contracture, Distal amyotrophy OMIM:609541
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Exaggerated startle response, Rocker bottom foot, Long f... ORPHA:521426
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Overlapping toe, Flexion contracture, Elbow flexio... OMIM:617301
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Exaggerated startle response, Joint contracture OMIM:617864
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertension, Mitral valve ... OMIM:620233
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Exaggerated startle response, Overlapping toe OMIM:618598
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Cardiomyopathy, Macroglossia, Dystonia, Flattened femoral head, Bro... ORPHA:79255
Sandhoff Disease, Infantile Form
Exaggerated startle response, Mitral regurgitation, Mitral valve prolapse ORPHA:309155
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Flexion contracture OMIM:618201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Partial absence of cerebellar vermis, Skeletal muscle hypertrophy, Macroglo... OMIM:613150
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Abnormal repetitive mannerisms... ORPHA:353281
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Rocker bottom foot, Postaxial polydactyly, Long fingers, Congenital... OMIM:617527
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Depression OMIM:620114
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Short humerus, Exaggerated startle response, Short femur, Tapered finger, Irr... OMIM:618367
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Facial hypotonia, Dystonia ORPHA:438216
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response, Cerebellar vermis hypoplasia, Dandy-Walker malformation OMIM:617281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Chiari type I malformation, Compulsive behaviors, Atrial septal defect, Pa... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Chiari type I malformation, Compulsive behaviors, Atrial septal defect, Pa... ORPHA:353277
Hyperekplexia 3
Exaggerated startle response, Syncope OMIM:614618
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Bicuspid aortic valve, Ventricular septal defect, Abnormality of th... ORPHA:438213
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Exaggerated startle response, Ventricular septal defect, Tapered finger, Short thumb, ... OMIM:619522
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400

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 Cmya5

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 Cmya5.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
CMYA5 establishes cardiac dyad architecture and positioning. Nature communications (April 2022) Cmya5em1(IMPC)J PMC9023524

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.

MGI Allele Allele Type Produced
Cmya5em1(IMPC)J Inter-exon deletion Mice

The IMPC Newsletter

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

Subscribe to newsletter