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Gene: Dtx4 MGI:2672905

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Gene Summary

Name:
deltex 4, E3 ubiquitin ligase
Synonyms:
RNF155

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged thymus Dtx4em1(IMPC)Ccpcz HET Early adult 0.00
abnormal thymus morphology Dtx4em1(IMPC)Ccpcz HET Early adult 0.00
increased airway resistance Dtx4em1(IMPC)Ccpcz HET Early adult 8.39×10-05
impaired glucose tolerance Dtx4em1(IMPC)Ccpcz HET Early adult 1.14×10-07
no spontaneous movement Dtx4em1(IMPC)Ccpcz HOM E18.5 0.00
preweaning lethality, complete penetrance Dtx4em1(IMPC)Ccpcz HOM   Early adult 0.00
enlarged heart Dtx4em1(IMPC)Ccpcz HET Early adult 0.00
abnormal heart morphology Dtx4em1(IMPC)Ccpcz HET Early adult 0.00
increased circulating alkaline phosphatase level Dtx4em1(IMPC)Ccpcz HET Early adult 1.07×10-06

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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 Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Forepaw

16 Images

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FCS thumbnail FCS
MicroCT E18.5

Embryo reconstruction

3 Images

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Human diseases caused by Dtx4 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 Dtx4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hypoglycemia, Anemia, Elevated circulating creatine kinase concentration OMIM:618838
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyper... OMIM:600649
Hemochromatosis, Type 4
Hepatomegaly, Anemia, Glucose intolerance, Cardiomyopathy, Impaired glucose tolerance, Diabetes m... OMIM:606069
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri... OMIM:620135
Hypertriglyceridemia 1
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:145750
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hepatomegaly, Glucose intolerance, Cardiomyopathy, ... OMIM:235200
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Decreased circulating carnitine concentration, Cardiomyopathy, Elevated circulating... OMIM:212140
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes ORPHA:563609
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia OMIM:619170
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Congenital Toxoplasmosis
Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Cardiomegaly ORPHA:858
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia, Cardiomegaly OMIM:269920
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Hypertrophic cardiomyopathy, Pericardial effusion, Hyperammonemia, Cardiomegaly,... OMIM:614702
Attrv122I Amyloidosis
Anemia, Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyo... ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Elevated circulating creatine k... OMIM:300280
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec... ORPHA:860
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Pseudo-Torch Syndrome 3
Anemia, Leukocytosis, Lymphadenitis, Cardiomegaly, Increased circulating ferritin concentration, ... OMIM:618886
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hyperprolinemia, Hyperalaninemia, Hepatomegaly OMIM:619064
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, H... ORPHA:42
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Decreased circulating carnitine concentration, Elevated circulating creatine kinase... OMIM:201475
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s... OMIM:618652
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly OMIM:619051
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Transient hyperlipidemia, Elevated circulating creatine k... OMIM:255120
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Timothy Syndrome
Hypocalcemia, Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Hypoglycemia, Ventricular ... OMIM:601005
Long-Olsen-Distelmaier Syndrome
Hypoglycemia, Hyperammonemia, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy... OMIM:620609
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Splenomegaly, Cardi... OMIM:256550
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Mody
Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, Hypoinsulinemia, Pancreatic ... ORPHA:552
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Cirrhotic Cardiomyopathy
Left atrial enlargement, Abnormal circulating B-type natriuretic peptide concentration, Hepatomeg... ORPHA:57777
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Hepatomegaly, Card... ORPHA:465508
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Sickle Cell Disease
Hepatomegaly, Cholelithiasis, Leukocytosis, Splenic infarction, Target cells, Splenomegaly, Cardi... OMIM:603903
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Hsd10 Disease, Infantile Type
Cardiomegaly, Hyperammonemia, Hypoglycemia, Hypertrophic cardiomyopathy ORPHA:391428
Congenital Disorder Of Glycosylation, Type Im
Aspiration, Dilated cardiomyopathy, Increased circulating free fatty acid level, Hypoketotic hypo... OMIM:610768
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Elevated circulating creatine kinase concentration, Left ventricula... OMIM:617713
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom... ORPHA:324410
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Elevated circulating creatinine concentration, Hepatomegaly, Hypoglycemia, Eleva... OMIM:608836
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hypoketotic hypoglycemia, Hyperlipidemia, Cardiomyopathy, Elevated circulating crea... ORPHA:228308
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Refsum Disease, Classic
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy OMIM:266500
Cleft Larynx, Posterior
Aspiration OMIM:215800
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Mogs-Cdg
Hypoventilation, Hepatomegaly, Hepatosplenomegaly, Thrombocytopenia, Left ventricular hypertrophy... ORPHA:79330
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Pancreatic ... OMIM:602782
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa... OMIM:300257
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Hypophosphatemic rickets, Right atrial enlargement OMIM:614473
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus OMIM:617022
Proteus-Like Syndrome
Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Dil... OMIM:614921
Amyotrophic Lateral Sclerosis 21
Aspiration, Elevated circulating creatine kinase concentration OMIM:606070
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Aspiration, Abnormal... ORPHA:96182
Vocal Cord And Pharyngeal Distal Myopathy
Mildly elevated creatine kinase, Aspiration ORPHA:600
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:616897
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Chronic hemolytic anemia, Ventricular hypertrophy, Leukocytosis, Unconjugated hyper... OMIM:618278
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Le... ORPHA:308552
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... ORPHA:363705
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper conce... OMIM:620306
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Elevated circulating creatine kinase concentration, Right ventricular hypertrophy ORPHA:268
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial ... OMIM:261740
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Hypotriglyceridemia, Hyperbilirubi... ORPHA:14
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Cardiomegaly OMIM:608013
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Aspiration, Cardiomyopathy, Highly elevated creatine kinase ORPHA:258
Laryngotracheoesophageal Cleft
Aspiration ORPHA:2004
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla... ORPHA:3384
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Aspiration, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:618922
Opitz Gbbb Syndrome
Aspiration, Ventricular septal defect, Cryptorchidism OMIM:300000
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Maternal diab... OMIM:300855
Neuromuscular Oculoauditory Syndrome
Aspiration, Elevated circulating creatine kinase concentration OMIM:618733
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Tay-Sachs Disease
Aspiration OMIM:272800
Hyperekplexia 1
Aspiration OMIM:149400
Oculopharyngodistal Myopathy 1
Aspiration, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Hypertrop... OMIM:164310
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets OMIM:208000
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Congenital hydrocele... OMIM:620376
Liver Disease, Severe Congenital
Left atrial enlargement, Lymphocytosis, Hypoproteinemia, Biliary hyperplasia, Hyperammonemia, Leu... OMIM:619991
Developmental And Epileptic Encephalopathy 38
Aspiration OMIM:617020
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Neonatal insulin-dependent... ORPHA:96191
Halperin-Birk Syndrome
Aspiration, Perimembranous ventricular septal defect OMIM:618651
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly, Cryptorchidism OMIM:618143
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Hypertrophic cardiomyopathy, ... OMIM:252500
Fucosidosis
Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Splenomegaly OMIM:230000
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Aspiration, Ventricular septal defect OMIM:614653
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Car... OMIM:130650
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Ele... OMIM:256040
Gm2-Gangliosidosis, Ab Variant
Aspiration OMIM:272750
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Spinocerebellar Ataxia Type 8
Aspiration ORPHA:98760
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Hepatomegaly, Abnormal mitral valve morphology, Splenomegaly, A... ORPHA:581
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Left ventricular noncompaction c... OMIM:300967
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Hypoglycemia, Ventricular septal defect, Polycystic ovaries ORPHA:137675
Esophageal Atresia
Aspiration, Ventricular septal defect, Tetralogy of Fallot, Maternal diabetes ORPHA:1199
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Enlarged kidney, Hepatomegaly, Abnormal pancreas morphology, Visceromegaly... ORPHA:116
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Pontine Tegmental Cap Dysplasia
Aspiration OMIM:614688
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration ORPHA:2148
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re... ORPHA:75565
Alternating Hemiplegia Of Childhood
Aspiration, Cardiomyopathy ORPHA:2131
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, He... ORPHA:51
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cardiomegaly, Patent foramen ovale, Cryptorchidism, Splenic cyst OMIM:620371
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Le... ORPHA:365
Bohring-Opitz Syndrome
Cardiomegaly, Annular pancreas, Cholelithiasis, Abnormal cardiac septum morphology ORPHA:97297
Rett Syndrome, Congenital Variant
Aspiration OMIM:613454
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Transposition of the great arteries, Muscu... OMIM:619503
Adnp Syndrome
Aspiration, Cryptorchidism ORPHA:404448
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Developmental And Epileptic Encephalopathy 100
Aspiration OMIM:619777
Williams Syndrome
Abnormal endocardium morphology, Abnormal circulating lipid concentration, Cardiomegaly, Cholelit... ORPHA:904
Bilateral Perisylvian Polymicrogyria
Aspiration, Ectopic posterior pituitary ORPHA:98889
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aspiration, Patent foramen ovale, Cryptorchidism, Pulmonic stenosis, Aortic valve stenosis, Abnor... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aspiration, Patent foramen ovale, Cryptorchidism, Pulmonic stenosis, Aortic valve stenosis, Abnor... ORPHA:353277
Acrofacial Dysostosis, Cincinnati Type
Biventricular hypertrophy, Cleft anterior mitral valve leaflet, Aspiration, Patent foramen ovale,... OMIM:616462
Yunis-Varon Syndrome
Cardiomyopathy, Cryptorchidism, Tetralogy of Fallot, Cardiomegaly, Atrial septal defect, Ventricu... ORPHA:3472
Proteus Syndrome
Enlarged kidney, Ovarian neoplasm, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly... ORPHA:744
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Ventricular hypertrophy, Pericardial effusion, Pancreatic calcification... ORPHA:51608
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... OMIM:182250

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 Dtx4

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 Dtx4.

No publications found that use IMPC mice or data for Dtx4.

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MGI Allele Allele Type Produced
Dtx4em1(IMPC)Ccpcz Exon Deletion Mice
Dtx4tm386083(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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