Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

FXYD domain-containing ion transport regulator 1
PML,  phospholemman,  1110006M24Rik,  0610012C17Rik,  PLM

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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 Fxyd1 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 Fxyd1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Cardiomegaly OMIM:227150
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Hepatomegaly, Right bundle... OMIM:115197
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Hypertrophic cardiomyopat... OMIM:615248
Coronary Arterial Fistula
Right ventricular dilatation, Continuous heart murmur, Elevated jugular venous pressure, Patent f... ORPHA:2041
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Aortic regurgitation, Systolic heart murmur, Congestive heart fai... ORPHA:3092
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Angina pectoris, Abnormal EKG, C... ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Arrhythmia, Atrioventricular block ORPHA:85447
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Systolic heart murmur, Congestive heart failure, ... ORPHA:439
Familial Atrial Myxoma
Cardiac myxoma, Congestive heart failure, Bacterial endocarditis, Heart murmur, Pulmonic valve my... ORPHA:615
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Congestive heart failure, Atrial septal defect, Biventricula... ORPHA:860
Danon Disease
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, ... OMIM:300257
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure OMIM:618654
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly OMIM:617713
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Cirrhotic Cardiomyopathy
Right atrial enlargement, Left ventricular diastolic dysfunction, Elevated jugular venous pressur... ORPHA:57777
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension, Cardiomy... OMIM:261740
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Ventricular tachycardia, Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:600649
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Congestive heart failure, Pulmonary arterial hypertension, Hyp... ORPHA:1457
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Prolonged QT interval, Ventricular septal defect, Brad... OMIM:601005
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Syst... ORPHA:555874
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, ... OMIM:212140
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Hepatomegaly, Congestive heart failure OMIM:269920
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:266500
Hemochromatosis, Type 1
Arrhythmia, Congestive heart failure, Telangiectasia, Splenomegaly, Hepatomegaly, Cardiomyopathy,... OMIM:235200
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly OMIM:619064
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Abnormal atrioventricular valve morphology, Congestive heart failure, Mitral valv... ORPHA:324410
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Ventricular hypertrophy, Cardiomega... OMIM:619051
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Cardiomegaly, Tricuspid re... OMIM:618652
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia OMIM:255120
Mulibrey Nanism
Pericardial constriction, Congestive heart failure, Hepatomegaly, Cardiomegaly, Myocardial fibrosis OMIM:253250
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:252920
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Familial Aortic Dissection
Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function ORPHA:229
Neuraminidase Deficiency
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:256550
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Hypertrophic cardiomyopathy, Sudden cardiac death, Hepatomegaly, Cardi... OMIM:201475
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Diffuse alveolar hemorrhage, Hepatomegaly, Heart murmur, Cardiomegaly ORPHA:99931
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomegaly, Aortic val... OMIM:231005
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy OMIM:105210
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Hypertension OMIM:618886
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Shortened PR interval, Hypertrophic cardiomyopathy, Hepatomegaly, Heart murmur, Low-output conges... ORPHA:308552
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Atrial flutter, Patent foramen ovale, Reduced ejection fraction, Congestive ... ORPHA:980
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Cardiomegaly, Hypertension OMIM:613320
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failur... ORPHA:363705
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia ORPHA:42
Glycogen Storage Disease Ii
Shortened PR interval, Wolff-Parkinson-White syndrome, Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:232300
Symptomatic Form Of Hemochromatosis Type 1
Portal hypertension, Elevated jugular venous pressure, Arrhythmia, Congestive heart failure, Sple... ORPHA:465508
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Sickle Cell Anemia
Hypertension, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:603903
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Abnormal EKG, Right bundle branch block, Right ventricular hypertrophy... ORPHA:268
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Cantu Syndrome
Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Pericardial effusion OMIM:239850
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Hypovolemic shock, Impaired myocardial contractility, Cardiomyopathy ORPHA:158687
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Congestive heart failure OMIM:619259
Histiocytoid Cardiomyopathy
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... ORPHA:137675
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Sudden cardiac death, Hepatomegaly, Pulmonary arterial hypertension, Vent... OMIM:614921
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616897
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Cardiomegaly, Telangiectasia of the skin, Lip telangiectasia ORPHA:79280
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Hypovolemia, Aortic regurgitation, Abnormal left ventricular function, Transient ischemic attack,... ORPHA:91387
Sandhoff Disease
Cardiomegaly, Orthostatic hypotension, Hepatosplenomegaly, Hepatomegaly OMIM:268800
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Truncus Arteriosus
Truncus arteriosus, Tetralogy of Fallot, Abnormal heart valve morphology, Aortic regurgitation, A... ORPHA:3384
Cantú Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology ORPHA:1517
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Arrhythmia, Hepatomegaly, Heart block, Cardiomyopathy, Cardiomegaly ORPHA:228308
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Dextrocardia, Double outlet right ventricle, H... ORPHA:99125
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepato... OMIM:252500
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Arrhythmia, Hepatomegaly, Antenatal intracerebral hemorr... OMIM:608836
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Atrial septal defect, Splenomegaly, Hepatomegaly, Pulmonic stenosis, Pulmonar... OMIM:602782
Cardiomegaly, Hepatomegaly ORPHA:349
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Hepatosplenomegaly, Atrial septal defect, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy ORPHA:79330
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:230000
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Mucosal telangiectasiae ORPHA:2463
Glycogen Storage Disease Due To Acid Maltase Deficiency
Shortened PR interval, Hypertrophic cardiomyopathy, Hepatomegaly, Transient ischemic attack, Vasc... ORPHA:365
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:608013
Congenital Tracheomalacia
Tetralogy of Fallot, Atrial septal defect, Partial anomalous pulmonary venous return, Pulmonary a... ORPHA:95430
Mucopolysaccharidosis Type 3
Abnormal myocardium morphology, Reduced ejection fraction, Abnormal mitral valve morphology, Sple... ORPHA:581
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Left ventricular... OMIM:245600
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Patent foramen ovale, Atrial septal defect, Left ventricular nonc... OMIM:300967
Beckwith-Wiedemann Syndrome
Enlarged kidney, Pancreatic hyperplasia, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:130650
Cardiomegaly, Hepatomegaly, Congestive heart failure ORPHA:14
Bohring-Opitz Syndrome
Bradycardia, Cardiomegaly, Abnormal cardiac septum morphology ORPHA:97297
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy OMIM:618278
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Aicardi-Goutières Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Raynaud phenomenon ORPHA:51
Proteasome-Associated Autoinflammatory Syndrome 1
Arrhythmia, Congestive heart failure, Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:256040
Singleton-Merten Syndrome 1
Congestive heart failure, Subvalvular aortic stenosis, Mitral valve calcification, Aortic valve c... OMIM:182250
Williams Syndrome
Abnormal endocardium morphology, Overriding aorta, Tetralogy of Fallot, Mitral regurgitation, Con... ORPHA:904
Yunis-Varon Syndrome
Tetralogy of Fallot, Atrial septal defect, Pulmonary arterial hypertension, Renovascular hyperten... ORPHA:3472
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Weak pulse, Myocardial calcification, Retinal hemorrhage, ... ORPHA:51608
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Visceromegaly, Cardiome... ORPHA:116


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 Fxyd1

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 Fxyd1.

No publications found that use IMPC mice or data for Fxyd1.

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MGI Allele Allele Type Produced
Fxyd1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Fxyd1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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