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Gene: Cmya5 MGI:1923719

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Gene Summary

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

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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.

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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

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X-ray

XRay Images Whole Body Dorso Ventral

2 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

2 Images

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Eye Morphology

Images Slit Lamp

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

2 Images

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X-ray

XRay Images Forepaw

2 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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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
Diminished motivation, Abnormal emotion/affect behavior, Shyness, Suicidal ideation, Lack of peer... ORPHA:96369
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myofiber disarray, Restrictive cardiomyopathy, Type 1 fibers relatively smaller than type 2 fiber... OMIM:619424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cardiomyopathy, Flexion contracture, Cerebellar dysplasia, Calf muscle hypertrophy, Muscular dyst... OMIM:613155
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Right bundle branch block, Redu... OMIM:115197
Cardiomyopathy, Dilated, 2D
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... OMIM:619371
Congenital Gerbode Defect
Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Ventricular septa... ORPHA:99095
Stiff-Person Syndrome
Exaggerated startle response, Axial muscle stiffness, Proximal limb muscle stiffness, Hypertensio... OMIM:184850
Paragangliomas 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... ORPHA:57777
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno... ORPHA:439
Stiff Person Spectrum Disorder
Hypothyroidism, Exaggerated startle response, Paraspinal muscle hypertrophy, Emotional lability, ... ORPHA:3198
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... OMIM:612422
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Knee flexion contracture, Unilateral wrist flexion contracture, Cerebellar dysplasia, Cerebellar ... OMIM:616531
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Palpitations, Abnormal P wave, Tricuspid regurgitation, Third heart sound,... ORPHA:99106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar dysplasia, Cerebellar hypoplasia, Muscular dystrophy, Cerebellar cyst, Left ventricula... OMIM:613153
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,... ORPHA:75249
Paragangliomas 1
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Episodic paroxysmal anxiety,... OMIM:168000
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... ORPHA:555874
Arterial Calcification, Generalized, Of Infancy, 2
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Congestive hear... OMIM:614473
Paragangliomas 3
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Episodic paroxysmal anxiety,... OMIM:605373
3-Methylglutaconic Aciduria, Type Iv
Subvalvular aortic stenosis, Biventricular hypertrophy, Cerebellar dysplasia OMIM:250951
Von Hippel-Lindau Disease
Adrenal pheochromocytoma, Pancreatic endocrine tumor, Elevated circulating catecholamine level, H... ORPHA:892
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Patent foramen ovale, Right ventricular hypertrophy, Right atria... OMIM:616028
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Flexion contracture, Calf muscle hypertrophy, Cerebellar hypoplasia... OMIM:253800
Familial Idiopathic Dilatation Of The Right Atrium
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... ORPHA:1677
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Decreased response to growth hormone stimulation test, Delayed speech and l... ORPHA:457240
Atrial Septal Defect, Ostium Secundum Type
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... ORPHA:99103
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Right ventricular dilatation, Unroofed co... ORPHA:99104
Intellectual Developmental Disorder, Autosomal Recessive 54
Delayed speech and language development, Exaggerated startle response, Emotional lability OMIM:617028
Tay-Sachs Disease
Exaggerated startle response, Precocious puberty, Quadriceps muscle atrophy, Lower limb muscle we... ORPHA:845
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Hypoplasia of the thymus, Pericardial effusion, Right atrial enlargem... OMIM:619313
Nestor-Guillermo Progeria Syndrome
Pulmonary arterial hypertension, Flexion contracture, Right bundle branch block, Sinus tachycardi... OMIM:614008
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Cerebellar hypoplasia, Muscular dystrophy, Cerebellar cyst, Hypoplasia of t... OMIM:615181
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Exaggerated startle response, Blepharospasm, Limb hypertonia, Limb dystonia, Tortico... OMIM:608643
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Abnormal cerebellum morphology, Limb hypertonia, Delayed speech and... OMIM:618056
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Delayed s... ORPHA:370022
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Pulmonary insufficiency, Bicuspid aortic valve, Mitral valve prolapse, Aortic regurgitation, Mitr... ORPHA:555877
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Irritability, Joint contracture, Absent speech OMIM:616881
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... ORPHA:70591
Asparagine Synthetase Deficiency
Exaggerated startle response, Diaphragmatic eventration, Limb hypertonia, Cerebellar hypoplasia, ... OMIM:615574
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Exaggerated startle response, Abnormal fear/anxiety-related behavior, Anx... ORPHA:309246
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Irritability, Joint contracture, Absent speech OMIM:617864
Sandhoff Disease
Exaggerated startle response, Macroglossia, Skeletal muscle atrophy, Orthostatic hypotension, Car... OMIM:268800
Pure Autonomic Failure
Orthostatic hypotension, Syncope, Abnormality of circulating catecholamine level ORPHA:441
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Distal amyotrophy, Exaggerated startle response, Multiple joint contractures, Distal lower limb a... ORPHA:320406
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Distal amyotrophy, Exaggerated startle response, Flexion contracture OMIM:609541
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Facial hypotonia, Dystonia, Anxiety ORPHA:438216
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Exaggerated startle response, Absent speech OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Exaggerated startle response, Absent speech OMIM:620114
Sandhoff Disease, Infantile Form
Mitral valve prolapse, Mitral regurgitation, Exaggerated startle response 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
Increased variability in muscle fiber diameter, Cerebellar dysplasia, Cerebellar hypoplasia, Musc... OMIM:613150
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Exaggerated startle response OMIM:618367
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Contractures of the large joints, Cerebellar cortical atrophy, Limb... ORPHA:521426
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia, Macroglossia, Cardiomyopathy ORPHA:79255
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Flexion contracture, Hip contracture, Elbow flexion contracture, Ar... OMIM:617301
Tay-Sachs Disease
Exaggerated startle response, Apathy OMIM:272800
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Apathy, Dystonia OMIM:272750
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Congenital hypothyroidism, Exaggerated startle response, Contractures of the large joints, Hypomi... OMIM:617527
Hyperekplexia 3
Exaggerated startle response, Syncope OMIM:614618
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the anterior pituitary, Patent foramen ovale, Exaggerated startle response, Precoc... ORPHA:438213
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Delayed speech and language development, Exaggerated startle response, Ventricular septal defect,... 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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