Gene Summary

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

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.

Select physiological systems to view:
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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 Dorso Ventral Orientation

2 Images

X-ray

XRay Images Skull Lateral Orientation

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

2 Images

X-ray

XRay Images Forepaw

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

2 Images

Eye Morphology

Images Slit Lamp

2 Images

Auditory Brain Stem Response

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

8 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
Early-Onset Schizophrenia
Impairment in personality functioning, Abnormal emotion/affect behavior, Depression, Anxiety, Low... ORPHA:96369
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Myo... OMIM:619424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Macroglossia, Flexion contracture, Muscular dystrophy, Cerebe... OMIM:613155
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Atrioventricular block, Left bundle branch block, Myofiber disarray, Co... OMIM:115197
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... ORPHA:99095
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Paragangliomas 6
Hypertension, Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Stiff-Person Syndrome
Agoraphobia, Exaggerated startle response, Opisthotonus, Depression, Asymmetric limb muscle stiff... OMIM:184850
Cirrhotic Cardiomyopathy
Fourth heart sound, Right atrial enlargement, Left ventricular hypertrophy, Left ventricular dias... ORPHA:57777
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebe... OMIM:616531
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Muscular dystrophy, Cerebellar dysplasia OMIM:615041
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy, Hypoplasia of the pons, Cerebellar hypoplasia, ... OMIM:613153
Stiff Person Spectrum Disorder
Paraspinal muscle hypertrophy, Agoraphobia, Exaggerated startle response, Anxiety, Hypothyroidism... ORPHA:3198
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Right atrial enlargement, Abnormal left ventricular function, Pulmon... ORPHA:75249
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Tricuspid ... ORPHA:555874
3-Methylglutaconic Aciduria, Type Iv
Subvalvular aortic stenosis, Cerebellar dysplasia, Biventricular hypertrophy OMIM:250951
Paragangliomas 1
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... OMIM:168000
Von Hippel-Lindau Disease
Abnormal left ventricular function, Palpitations, Anxiety, Arrhythmia, Paraganglioma, Myocarditis... ORPHA:892
Paragangliomas 3
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... OMIM:605373
Adams-Oliver Syndrome 5
Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Patent foramen ovale,... OMIM:616028
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Atrioventricular block, Complete heart block with narrow QRS complexes,... ORPHA:1677
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Atrial septal defect, Exaggerated startle response, Flexion contracture, Pul... OMIM:253800
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Transient i... ORPHA:99103
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Supraventricular arrhythmia, Right atrial enlargement, Anomalous pulmona... ORPHA:99104
Nestor-Guillermo Progeria Syndrome
Right atrial enlargement, Spotty hyperpigmentation, Flexion contracture, Mitral regurgitation, De... OMIM:614008
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, Endocardial fibro... OMIM:619313
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Muscular dystrophy, Hypoplasia of the pons, Cerebellar hypoplasia, Cerebellar dysplasia, Cerebell... OMIM:615181
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Self-mutilation, Depression, Anxiety, Trem... ORPHA:457240
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Limb hypertonia, Oculogyric crisis, Hyp... OMIM:608643
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right atrial enlargement, Abnormal left ventricular function, Abnormal T-wave, Dep... ORPHA:70591
Myopathy With Extrapyramidal Signs
Calf muscle hypertrophy, Ventricular septal defect, Tremor, Choreoathetosis, Cerebellar dysplasia... OMIM:615673
Tay-Sachs Disease
Quadriceps muscle atrophy, Precocious puberty, Laryngeal dystonia, Exaggerated startle response, ... ORPHA:845
Asparagine Synthetase Deficiency
Cerebellar hypoplasia, Diaphragmatic eventration, Hypoplasia of the pons, Exaggerated startle res... OMIM:615574
Pure Autonomic Failure
Orthostatic hypotension, Syncope, Abnormality of circulating catecholamine level ORPHA:441
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Anxiety, Inappropriate beha... ORPHA:309246
47,Xyy Syndrome
Increased serum testosterone level, Impulsivity, Dysgenesis of the cerebellar vermis, Cerebellar ... ORPHA:8
Sandhoff Disease
Exaggerated startle response, Macroglossia, Orthostatic hypotension, Skeletal muscle atrophy, Car... OMIM:268800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Multiple joint contractures, Distal lower limb amyotrophy, Exaggerated startle response, Distal a... ORPHA:320406
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Flexion contracture, Distal amyotrophy OMIM:609541
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in muscle fi... OMIM:613150
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Anxiety, Facial hypotonia, Exaggerated startle response ORPHA:438216
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Flexion contracture OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Cerebellar atrophy OMIM:618367
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Cerebellar atrophy OMIM:618598
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Exaggerated startle response, Macroglossia ORPHA:79255
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Limb hypertonia, Contractures of the large joints, Dystonia, Cerebe... ORPHA:521426
Tay-Sachs Disease
Apathy, Exaggerated startle response OMIM:272800
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion contracture, Ar... OMIM:617301
Gm2-Gangliosidosis, Ab Variant
Dystonia, Apathy, Exaggerated startle response OMIM:272750
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Congenital hypothyroidism, Exaggerated startle response, Hypomi... OMIM:617527
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Abnormality of the endocrine system, Atrial septal defect, Exaggerated sta... ORPHA:438213
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Ventricular septal defect, Atrial septal defect, Exaggerated startle response OMIM:619522

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

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

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