Gene Summary

Name:
Fas death domain-associated protein
Synonyms:
N/A

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
embryonic lethality prior to organogenesis Daxxem1(IMPC)Mbp HOM   E9.5 0.00
preweaning lethality, complete penetrance Daxxem1(IMPC)Mbp HOM   Early adult 0.00
enlarged heart Daxxem1(IMPC)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

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 Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Daxx 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.

The table below shows human diseases associated to Daxx by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Abnormal pulmonary valve cusp morphology ORPHA:100075

The table below shows human diseases predicted to be associated to Daxx by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma ORPHA:615
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:600649
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... OMIM:300257
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... ORPHA:85451
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pericardial constriction OMIM:253250
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... OMIM:115197
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:256550
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... ORPHA:2041
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly OMIM:239850
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Hemochromatosis, Type 1
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:235200
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... ORPHA:439
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiom... ORPHA:324410
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly OMIM:261740
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:201475
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:616897
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Cardiome... OMIM:306955
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Ab... ORPHA:363705
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Cardiomegaly OMIM:617022
Complete Atrioventricular Septal Defect
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... ORPHA:1329
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left atrial enlargement, Ca... ORPHA:57777
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly ORPHA:465508
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:603903
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Mogs-Cdg
Hepatomegaly, Atrial septal defect, Left ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly ORPHA:79330
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Cantú Syndrome
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:1517
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Enlarged kidney OMIM:608836
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... OMIM:620066
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:268800
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly ORPHA:308552
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Atrial septal defect, Splenomegaly, Pulmonic stenosis, Hepatosplenomegaly, Ventricu... OMIM:602782
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:614921
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Mitral valve prolapse,... OMIM:245600
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly ORPHA:228308
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Right ventricular hypertrophy, Atrial septal dilatation, ... ORPHA:1677
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... ORPHA:95430
Truncus Arteriosus
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralogy of Fallot, Vent... ORPHA:3384
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... ORPHA:980
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Hepatomegaly, Splenomegaly, Abnormal aortic valve morphology, A... ORPHA:581
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Splenomegaly, Enlarged kidney, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:252500
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:618278
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... OMIM:300967
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Hepatomegaly,... ORPHA:99125
Ogden Syndrome
Bicuspid aortic valve, Secundum atrial septal defect, Atrial septal defect, Enlarged kidney, Vent... OMIM:300855
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Hepatomegaly, Cardiomegaly ORPHA:96191
Histiocytoid Cardiomyopathy
Ventricular septal defect, Hepatomegaly, Cardiomegaly ORPHA:137675
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly ORPHA:365
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly ORPHA:14
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Beckwith-Wiedemann Syndrome
Hepatomegaly, Pancreatic hyperplasia, Enlarged kidney, Cardiomyopathy, Cardiomegaly OMIM:130650
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Endocar... ORPHA:75565
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:51
Liver Disease, Severe Congenital
Hepatomegaly, Atrial septal defect, Splenomegaly, Ventricular septal defect, Subvalvular aortic s... OMIM:619991
Beckwith-Wiedemann Syndrome
Hepatomegaly, Splenomegaly, Enlarged kidney, Visceromegaly, Hypertrophic cardiomyopathy, Cardiome... ORPHA:116
Williams Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrial septal defect, Overriding aorta... ORPHA:904
Yunis-Varon Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiomyopathy, Cardiomegaly ORPHA:3472
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:256040
Singleton-Merten Syndrome 1
Aortic valve calcification, Aortic valve stenosis, Mitral valve calcification, Subvalvular aortic... OMIM:182250
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Pericardial effusion, Myocardial calcification, Cardiomegaly ORPHA:51608
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Abnormal pulmonary valve cusp morphology ORPHA:100075

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 Daxx

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 Daxx.

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

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MGI Allele Allele Type Produced
Daxxtm375044(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Daxxem1(IMPC)Mbp Intra-exon deletion Mice, Tissue

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