Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
zinc finger protein 418
Synonyms:
A230102I05Rik

IMPC Data Collections

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

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.

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 Zfp418 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 Zfp418 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Left ventricular hypertrophy OMIM:115210
Ethanolaminosis
Cardiomegaly OMIM:227150
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen ... OMIM:611556
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Mitral valve prolapse, Cardiomyopathy OMIM:614676
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular noncompaction, Left ventricu... OMIM:613424
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy OMIM:601494
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Endocardial fibroelastosis, Cardiomyocyte hypertrop... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 17
Left ventricular hypertrophy, Myocardial fibrosis, Cardiomyopathy OMIM:613873
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Left ventric... OMIM:615248
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Left ventricular hypertrophy OMIM:614022
Cardiomyopathy, Familial Hypertrophic, 16
Left ventricular hypertrophy, Asymmetric septal hypertrophy OMIM:613838
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... ORPHA:206546
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular hypert... OMIM:604169
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Subvalvular aortic stenosis, Left ventricular hypertrophy, Tetralogy o... OMIM:108900
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Restrictive cardiomyo... OMIM:608751
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Triceps weakness, Generalized amyotrophy, Cardiomyopathy, Left ventricular hypertrophy,... ORPHA:86812
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Abnormal morphology of the chordae t... ORPHA:75566
Myofibrillar Myopathy 10
Ankle flexion contracture, EMG: myopathic abnormalities, Knee flexion contracture, Left ventricul... OMIM:619040
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Ventricular hypertrophy, Hepatomegaly OMIM:619048
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy OMIM:614654
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Skeletal muscle hypertrophy, Macroglossia, Facial palsy, Congenital muscular dystrophy, Left vent... OMIM:613156
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers OMIM:540000
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Restrictive cardiomyopathy, Car... ORPHA:85451
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... ORPHA:169186
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture OMIM:616733
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy, Ventricular septal hypertrophy, Left ... OMIM:608758
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon c... OMIM:615418
Tangier Disease
Hepatomegaly, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Distal amyotrophy OMIM:205400
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... ORPHA:3092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy OMIM:613153
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Cardiomyopathy OMIM:102200
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... OMIM:618654
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Familial Dilated Cardiomyopathy
Left ventricular hypertrophy, Right ventricular dilatation ORPHA:217607
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Left ventricular hyper... OMIM:615355
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Isolated Succinate-Coq Reductase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Noncompaction cardiomyopathy, Skeletal myop... ORPHA:3208
Congenital Aortic Valve Stenosis
Endocarditis, Dysplastic aortic valve, Endocardial fibroelastosis, Aortic valve calcification, Le... ORPHA:3093
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Cantu Syndrome
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion OMIM:239850
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ventricular hypertrophy ORPHA:444013
Congenital Disorder Of Glycosylation, Type Iig
Left ventricular hypertrophy, Camptodactyly OMIM:611209
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Hepatomegaly, Left ventricular hypertrophy, Left ventricular noncompactio... OMIM:619167
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Dextrotranspositi... OMIM:618619
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Skeletal muscle atrophy, Right ventricular hypertrophy, Muscular dy... OMIM:253700
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:335
Rowley-Rosenberg Syndrome
Cor pulmonale, Right ventricular hypertrophy OMIM:268500
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy ORPHA:251274
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular dilatation, Left ... ORPHA:563
Pituitary Gigantism
Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:99725
Cardiac Diverticulum
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Tricuspid atresia, Tricuspid sten... ORPHA:1686
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, EMG: myopathic abnormalities, ... OMIM:300257
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Facial hypotonia, Cardiomegaly, Left ven... ORPHA:308552
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Mitochondrial Trifunctional Protein Deficiency
Skeletal myopathy, Cardiomyopathy, Left ventricular hypertrophy, Rhabdomyolysis, Lower limb muscl... ORPHA:746
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy ORPHA:320
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Mitral stenosis, P... OMIM:616564
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Pericardial effusion, Ventricular hypertroph... OMIM:115197
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Atrial septal defect ORPHA:79330
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ventricular septal defect, Aortic valve prolapse, Perimembranous ventricul... ORPHA:99094
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Pericardial effusion, Left ventricular hypertrophy, Hepatosplenomegal... OMIM:619487
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Cardiac-Valvular Ehlers-Danlos Syndrome
Tendon rupture, Mitral valve prolapse, Left ventricular hypertrophy, Atrial septal defect, Abnorm... ORPHA:230851
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Abnormal mitral valve morphol... ORPHA:860
Chromosome 13Q33-Q34 Deletion Syndrome
Left ventricular hypertrophy, Small thenar eminence, Pulmonic stenosis, Camptodactyly OMIM:619148
Fabry Disease
Left ventricular hypertrophy, Ventricular septal hypertrophy OMIM:301500
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy ORPHA:90065
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Endocardial fibroelastosis, Cardiomegaly, Re... OMIM:212140
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Mitral valve prolapse, Congenital diaphragmatic hernia, Cardiomegaly, Left... OMIM:245600
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:600649
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy OMIM:619355
Vici Syndrome
Dilated cardiomyopathy, Myopathy, Cardiomyopathy, Left ventricular hypertrophy OMIM:242840
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, ... ORPHA:2299
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia... ORPHA:254892
Timothy Syndrome
Cardiomegaly, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale OMIM:601005
Mucolipidosis Type Ii
Hip contracture, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Cardiomyopat... ORPHA:576
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... ORPHA:1457
Tangier Disease
Left ventricular hypertrophy, Hepatosplenomegaly, Facial diplegia, Coronary artery stenosis ORPHA:31150
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:618652
Pulmonary Hypertension, Primary, Autosomal Recessive
Right ventricular hypertrophy OMIM:265400
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Facial hypotonia, Cardiomegaly, EMG: myo... ORPHA:365
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Right atrial enlargement, Left ventricular hypertrophy, Right ventricula... ORPHA:99106
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... ORPHA:2041
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252920
Bardet-Biedl Syndrome 1
Left ventricular hypertrophy OMIM:209900
Glycogen Storage Disease Of Heart, Lethal Congenital
Myopathy, Biventricular hypertrophy, Macroglossia, Cardiomegaly, Cardiomyopathy OMIM:261740
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Right ventricular hypertrophy, Cardiomegaly, Proximal mu... ORPHA:268
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Limb muscle weakness OMIM:266500
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy ORPHA:294023
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morphology, Contractures of ... ORPHA:324410
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Myopathy, Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly ORPHA:42
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:235200
Cranioectodermal Dysplasia 2
Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Atrial septal defect, Patent foramen ovale OMIM:613610
Fabry Disease
Hypertrophic cardiomyopathy, Abnormal endocardium morphology, Abnormal aortic valve morphology, L... ORPHA:324
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... ORPHA:439
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Mitral valve calcification, Left ventricular hypertrophy, Flexion contracture, Pate... OMIM:619127
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Exercise-induced rhabdomyolysis, Cardiomegaly OMIM:201475
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... OMIM:306955
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, Right ventricular hypertrophy, Left ventricular hypertrophy, Ebstein a... ORPHA:466791
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Distal Monosomy 12Q
Congenital hypertrophy of left ventricle, Patent foramen ovale, Elbow flexion contracture ORPHA:96149
Glycogen Storage Disease Ii
Firm muscles, Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly OMIM:232300
Lethal Congenital Contracture Syndrome 10
Torticollis, Ventricular septal defect, Cardiomegaly, Overriding aorta OMIM:617022
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Abnormal heart morphology, Left ventricular hypertrophy, Hypoplasia of the... OMIM:612289
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Macroglossia, Cardiomegal... ORPHA:363705
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... ORPHA:1329
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect, Facial hypotonia OMIM:618798
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Flexion contracture OMIM:616897
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:603903
Symptomatic Form Of Hemochromatosis Type 1
Decreased muscle mass, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly ORPHA:465508
Fucosidosis
Decreased muscle mass, Hepatomegaly, Cardiomegaly ORPHA:349
Sandhoff Disease
Hepatomegaly, Skeletal muscle atrophy, Macroglossia, Cardiomegaly, Hepatosplenomegaly OMIM:268800
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Increased muscle lipid content, Cardiomegaly, Knee flexion ... OMIM:608836
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Mitral valve prolapse, Flexion contracture of toe, Cardi... OMIM:602782
Fucosidosis
Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly, Flexion contracture OMIM:230000
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Limb muscle weakness OMIM:619259
Aneurysm-Osteoarthritis Syndrome
Left ventricular hypertrophy, Abnormal heart morphology, Camptodactyly of finger, Pulmonic stenosis ORPHA:284984
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Loeys-Dietz Syndrome 3
Bicuspid aortic valve, Mitral valve prolapse, Ventricular hypertrophy, Pulmonic stenosis, Left ve... OMIM:613795
Craniofaciofrontodigital Syndrome
Abnormal heart morphology, Cardiomegaly OMIM:114620
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Arthrogryposis multiplex congenita, Splenomegaly, Hepatosplenomegaly OMIM:608013
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly, Camptodactyly of toe ORPHA:158687
Hypertrichotic Osteochondrodysplasia, Cantu Type
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Cardiomegaly, Rhabdomyolysis OMIM:614921
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, Cardiomegaly, Right atrial... ORPHA:1677
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Macroglossia, Cardiomegaly, Arthrogryposis multiplex congenita, Multiple joint cont... OMIM:618143
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Cardiomegaly, Hypoplasia of the musculature, Thenar muscle atrophy ORPHA:2463
Truncus Arteriosus
Ventricular septal defect, Truncus arteriosus, Right ventricular hypertrophy, Abnormal heart morp... ORPHA:3384
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal hemidiaphragm morphology, Abnormal heart morphology, Cardiomegaly, A... ORPHA:980
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly, Diastasis recti OMIM:252500
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly OMIM:618278
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly, Cardiomyopathy ORPHA:228308
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... OMIM:300967
Mucopolysaccharidosis Type 3
Hepatomegaly, Abnormal mitral valve morphology, Macroglossia, Abnormal aortic valve morphology, C... ORPHA:581
Congenital Tracheomalacia
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Atrial sept... ORPHA:95430
Beckwith-Wiedemann Syndrome
Hepatomegaly, Macroglossia, Cardiomegaly, Cardiomyopathy, Diastasis recti, Pancreatic hyperplasia... OMIM:130650
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Bohring-Opitz Syndrome
Cardiomegaly, Facial hypotonia, Abnormal cardiac septum morphology, Bilateral wrist flexion contr... ORPHA:97297
Congenital Total Pulmonary Venous Return Anomaly
Dextrocardia, Hepatomegaly, Ventricular septal defect, Mixed total anomalous pulmonary venous con... ORPHA:99125
Abetalipoproteinemia
Cardiomegaly, Hepatomegaly, Myopathy, Distal lower limb muscle weakness ORPHA:14
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Greenberg Dysplasia
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:215140
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:137675
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Hepatomegaly, Myocardial calcification, Endocardial fibrosis, Coronary a... ORPHA:75565
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Skeletal muscle atrophy, Flexion contracture of toe, Macroglossia, Cardiomegaly, Sp... OMIM:256040
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Myositis, Cardiomegaly, Hepatosplenomegaly, Multiple joint contractures ORPHA:51
Beckwith-Wiedemann Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Rhabdomyosarcoma, Macroglossia, Congenital diaphragmat... ORPHA:116
Singleton-Merten Syndrome 1
Tendon rupture, Mitral valve calcification, Cardiomegaly, Subvalvular aortic stenosis, Muscle fib... OMIM:182250
Williams Syndrome
Hypertrophic cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Abnormal endocardi... ORPHA:904
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot ORPHA:3472
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Myocardial calcification, Cardiomegaly, Pericardial effusion ORPHA:51608

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 Zfp418

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 Zfp418.

No publications found that use IMPC mice or data for Zfp418.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Zfp418tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Zfp418tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter