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
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement OMIM:115210
Ethanolaminosis
Cardiomegaly OMIM:227150
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613876
Atrial Fibrillation, Familial, 6
Left ventricular hypertrophy, Left atrial enlargement OMIM:612201
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613874
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:612158
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ventricular se... OMIM:615248
Cardiomyopathy, Dilated, 1U
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:613694
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... ORPHA:171445
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contracture, Calf muscle hypert... ORPHA:206546
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613251
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Atrial Fibrillation, Familial, 10
Right ventricular dilatation, Left ventricular hypertrophy, Left atrial enlargement OMIM:614022
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Endocardial fibrosis, Left ventricular hypertrophy, Restrictive cardiomy... OMIM:608751
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in... ORPHA:86812
Cardiomyopathy, Familial Hypertrophic, 17
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myocardial fibrosis OMIM:613873
Cardiomyopathy, Dilated, 1V
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:613697
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ... OMIM:619040
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 16
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy OMIM:613838
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Hepatomegaly, Ventricular hypertrophy OMIM:619048
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers OMIM:540000
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:601494
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... ORPHA:85451
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... OMIM:300280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Muscular dystrophy,... OMIM:613156
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:618228
Cardiomyopathy, Familial Hypertrophic, 10
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Asymme... OMIM:608758
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle OMIM:614654
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... ORPHA:169186
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture OMIM:616733
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, EMG: myopathic ab... OMIM:615418
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Knee flexion contracture, Distal amyotroph... ORPHA:3208
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ... OMIM:618654
Tangier Disease
Hepatomegaly, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventricular hypertrophy OMIM:205400
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Cardiomyopathy OMIM:102200
Cardiomyopathy, Familial Hypertrophic, 11
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... OMIM:612098
Noonan Syndrome 8
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... OMIM:615355
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Congenital Aortic Valve Stenosis
Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocardial fibroelastosis, Left ... ORPHA:3093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy OMIM:613153
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Right ventricular hypertrophy ORPHA:444013
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Myopathy, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertroph... OMIM:619167
Cln3 Disease
Left ventricular hypertrophy ORPHA:228346
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:335
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... OMIM:253700
Cardiac Diverticulum
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... ORPHA:1686
Peripartum Cardiomyopathy
Left atrial enlargement, Myocarditis, Dilated cardiomyopathy, Abnormal atrioventricular valve mor... ORPHA:563
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:99725
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy ORPHA:251274
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Hypertr... ORPHA:308552
Mucopolysaccharidosis, Type X
Left ventricular hypertrophy, Aortic valve stenosis, Thickened aortic valve cusp OMIM:619698
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Cardiomyopathy, Skeletal myopathy, Left ventricular hypertrophy, Lower limb muscl... ORPHA:746
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Mitral valve prolapse, Atrial septal defect, Left ventricular hy... ORPHA:230851
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy ORPHA:79330
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy ORPHA:320
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial sept... OMIM:616564
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Pericardial effusion, Hepatosplenomegaly, Lower limb hypertonia, Left... OMIM:619487
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... OMIM:245600
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy ORPHA:90065
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Congenital Disorder Of Glycosylation, Type Iig
Left ventricular hypertrophy, Camptodactyly OMIM:611209
Fabry Disease
Left ventricular hypertrophy, Ventricular septal hypertrophy OMIM:301500
Chromosome 13Q33-Q34 Deletion Syndrome
Left ventricular hypertrophy, Small thenar eminence, Pulmonic stenosis, Camptodactyly OMIM:619148
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy OMIM:619355
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Aortic valve atresia, Double outlet right ventr... ORPHA:2299
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:618321
Autosomal Dominant Progressive External Ophthalmoplegia
Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red muscle fibers, Limb ... ORPHA:254892
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Mucolipidosis Type Ii
Hip contracture, Abnormal mitral valve morphology, Diastasis recti, Splenomegaly, Hepatosplenomeg... ORPHA:576
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Reduced muscle carnitine level, Endocardial... OMIM:212140
Infantile Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:269920
Tangier Disease
Left ventricular hypertrophy, Facial diplegia, Coronary artery stenosis, Hepatosplenomegaly ORPHA:31150
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Aortic Aneurysm, Familial Thoracic 10
Left ventricular hypertrophy, Bicuspid aortic valve OMIM:617168
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Cardiomegaly, Fl... ORPHA:365
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Atrial Septal Defect, Ostium Primum Type
Right ventricular dilatation, Left ventricular hypertrophy, Left atrial enlargement, Right atrial... ORPHA:99106
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Mulibrey Nanism
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly OMIM:253250
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Vici Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect, Left ventricular hypertrophy OMIM:242840
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr... OMIM:300257
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness... ORPHA:268
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis ORPHA:42
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ... ORPHA:324410
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Fabry Disease
Abnormal endocardium morphology, Abnormal aortic valve morphology, Left ventricular hypertrophy, ... ORPHA:324
Hemochromatosis, Type 1
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:235200
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy ORPHA:294023
Bardet-Biedl Syndrome 1
Left ventricular hypertrophy OMIM:209900
Refsum Disease, Classic
Cardiomyopathy, Limb muscle weakness, Cardiomegaly OMIM:266500
Cranioectodermal Dysplasia 2
Hepatomegaly, Splenomegaly, Atrial septal defect, Left ventricular hypertrophy, Patent foramen ovale OMIM:613610
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, Abnormal left ventricle morphology, Ebstein anomaly of the tricuspid v... ORPHA:466791
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced rhabdomyolysis, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:201475
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Mitral valve calcification, Flexion contracture, Left ventricular hypertrophy, Pate... OMIM:619127
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly OMIM:616897
Distal Deletion 12Q
Elbow flexion contracture, Congenital hypertrophy of left ventricle, Patent foramen ovale ORPHA:96149
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Fontaine Progeroid Syndrome
Atrial septal defect, Bicuspid aortic valve, Hypoplasia of the abdominal wall musculature, Abnorm... OMIM:612289
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v... OMIM:617022
Sandhoff Disease
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly, Macroglossia OMIM:268800
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Left ventricular hypertrophy, Hypert... OMIM:220111
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly ORPHA:349
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb... OMIM:602782
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Splenomegaly, Cardiomyopathy ORPHA:465508
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Cardiomegaly OMIM:619259
Aneurysm-Osteoarthritis Syndrome
Left ventricular hypertrophy, Camptodactyly of finger, Pulmonic stenosis, Abnormal heart morphology ORPHA:284984
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased muscle glycogen content, Macroglossia, Firm m... OMIM:232300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion... OMIM:608836
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Bicuspid aortic valve, Mitral valve prolapse, Pulmonic stenosis, Camptod... OMIM:613795
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Cardiomyopathy, Cardiomegaly ORPHA:158687
Sickle Cell Disease
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:603903
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Rhabdomyolysis, Dilated cardiomyopathy OMIM:614921
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita OMIM:608013
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Neurodegeneration And Seizures Due To Copper Transport Defect
Limb hypertonia, Cardiomegaly OMIM:620306
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c... OMIM:618143
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Thenar muscle atrophy, Hypoplasia of the musculature, Cardiomegaly ORPHA:2463
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia OMIM:230000
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly ORPHA:228308
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Cardiomegaly, Abnormal heart morphology, Abnormal cardiac sept... ORPHA:980
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Diastasis recti, Cardiomegaly, Splenomegaly, Macroglossia, Camptodactyly, Arthrogry... OMIM:252500
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia, Abnormal aortic valv... ORPHA:581
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... OMIM:130650
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly OMIM:618278
Bohring-Opitz Syndrome
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... ORPHA:97297
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Abetalipoproteinemia
Hepatomegaly, Distal lower limb muscle weakness, Myopathy, Cardiomegaly ORPHA:14
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Ogden Syndrome
Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomeg... OMIM:300855
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:137675
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy ORPHA:51
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Flexi... OMIM:256040
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S... ORPHA:116
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... OMIM:619991
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot ORPHA:3472
Williams Syndrome
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... ORPHA:904
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... OMIM:182250
Generalized Arterial Calcification Of Infancy
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly 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.

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

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