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Gene: Fhod3 MGI:1925847

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Gene Summary

Name:
formin homology 2 domain containing 3
Synonyms:
A930009H06Rik

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IMPC Data Collections

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
abnormal hindbrain development Fhod3em1(IMPC)Mbp HOM E9.5 0.00
abnormal optic vesicle formation Fhod3em1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube morphology Fhod3em1(IMPC)Mbp HET E9.5 0.00
abnormal midbrain development Fhod3em1(IMPC)Mbp HOM E9.5 0.00
embryonic growth retardation Fhod3em1(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Fhod3em1(IMPC)Mbp HOM   Early adult 0.00
abnormal neural tube closure Fhod3em1(IMPC)Mbp HET E9.5 0.00
increased freezing behavior Fhod3em1(IMPC)Mbp HET Early adult 2.68×10-05
abnormal neural tube closure Fhod3em1(IMPC)Mbp HOM E9.5 0.00
abnormal placenta morphology Fhod3em1(IMPC)Mbp HET E15.5 0.00
abnormal neural tube morphology Fhod3em1(IMPC)Mbp HOM E9.5 0.00
prenatal lethality prior to heart atrial septation Fhod3em1(IMPC)Mbp HOM   E15.5 0.00
abnormal heart morphology Fhod3em1(IMPC)Mbp HOM E9.5 0.00
abnormal forebrain development Fhod3em1(IMPC)Mbp HOM E9.5 0.00

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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.

Gross Morphology Embryo E9.5

Images

22 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E9.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E14.5-E15.5

Images

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Fhod3 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 Fhod3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Familial Hypertrophic, 28
Systolic anterior motion of the mitral valve, Left atrial enlargement, Reduced left ventricular e... OMIM:619402

The table below shows human diseases predicted to be associated to Fhod3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Major Depressive Disorder
Depression OMIM:608516
Major Affective Disorder 1
Depression, Mania OMIM:125480
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper... OMIM:613424
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Obsessive-Compulsive Disorder
Depression, Skin-picking, Collectionism, Compulsive behaviors OMIM:164230
Left Ventricular Noncompaction 1
Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact... OMIM:604169
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Congenital Heart Block
Peripheral edema, Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval,... ORPHA:60041
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S... ORPHA:300751
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal h... OMIM:115197
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardio... OMIM:614702
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Hydrops Fetalis
Polyhydramnios, Capillary leak, Lymphedema, Pleural effusion, Ascites, Generalized edema, Pericar... ORPHA:1041
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonary... ORPHA:2414
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Tricuspid regurgitation, Hypert... OMIM:616501
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Cardiomegaly, Anasarca, T-wave inver... OMIM:261740
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ... OMIM:601214
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Sh... OMIM:252011
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card... OMIM:617228
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Tric... ORPHA:555874
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Int... OMIM:618775
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Polyhydramnios, Ventricular bigeminy, Patent foramen ovale... OMIM:620519
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Craniofaciofrontodigital Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aor... ORPHA:363705
Cardiomyopathy, Familial Hypertrophic, 28
Systolic anterior motion of the mitral valve, Left atrial enlargement, Reduced left ventricular e... OMIM:619402
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Bundle branch block, Arrhythmia ORPHA:1479
Cantu Syndrome
Bicuspid aortic valve, Lymphedema, Umbilical hernia, Pericardial effusion, Congenital hypertrophy... OMIM:239850
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... OMIM:617300
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Nonimmune hydrops fet... OMIM:619313
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Prolonged QT interval, Patent foramen ovale, Ventricular fibrillation, Peri... ORPHA:26793
Biemond Syndrome Type 2
Hydrocephalus, Coloboma, Delayed puberty, Short stature ORPHA:141333
Loeffler Endocarditis
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa... ORPHA:75566
Meckel Syndrome, Type 8
Pericardial effusion, Occipital encephalocele, Encephalocele OMIM:613885
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Congenital Enterovirus Infection
Myocarditis, Hydrops fetalis, Polyhydramnios, Cardiomyopathy, Hypotension, Pleural effusion, Peri... ORPHA:292
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Patent foramen ovale, Tricuspid regurgitation, Neonatal de... OMIM:619167
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Pericarditis, Pericardial effusion ORPHA:231111
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Abnormal heart valve morphology, Pleural effusion, Ascites, Angioedema, ... ORPHA:36412
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy OMIM:620089
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Limb hypertonia, Multiple muscular ventricular septal defects, Short stature, Per... OMIM:620070
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pulmonary edema, Pedal edema, Pleural effusion, Pericardial e... ORPHA:199241
Aicardi-Goutieres Syndrome 9
Increased blood pressure, Hypertension, Ascites, Portal hypertension, Pericarditis, Pericardial e... OMIM:619487
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Bicuspid aortic valve, Cardiomegaly, Right vent... ORPHA:2041
Alpha-Thalassemia
Congestive heart failure, Hydrops fetalis, Pleural effusion, Generalized edema, Pericardial effusion ORPHA:846
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Atrial septal defect, Hydrops fetalis, Ascites OMIM:608776
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Acute Interstitial Pneumonia
Peripheral edema, Pericardial effusion, Hypertension, Pleural effusion ORPHA:79126
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Mesocardia, Partial anomalous pulmonary venous return, Dextrocar... OMIM:618280
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Pediatric Systemic Lupus Erythematosus
Myositis, Pleural effusion, Ascites, Pericardial effusion, Raynaud phenomenon, Edema ORPHA:93552
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Coloboma, Ventricular septal defect, Holoprosencephaly OMIM:601357
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Spina bifida occulta, Lymphedema, Pleural effusion, Camptodactyly, ... OMIM:235510
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... ORPHA:3077
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Congestive heart failure, Patent ductus arteriosus, Atrial fibri... ORPHA:1880
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Short stature, Ho... ORPHA:1908
Primary Intestinal Lymphangiectasia
Pleural effusion, Ascites, Generalized edema, Pericardial effusion, Growth delay, Edema ORPHA:90362
Joubert Syndrome 15
Coloboma, Exencephaly OMIM:614464
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Gaucher Disease Type 3
Delayed puberty, Hydrops fetalis, Abnormal heart valve morphology, Pulmonary arterial hypertensio... ORPHA:77261
Q Fever
Myocarditis, Abnormal left ventricular function, Vasculitis, Abnormal heart valve morphology, Ple... ORPHA:781
Alkuraya-Kucinskas Syndrome
Pleural effusion, Camptodactyly, Pericardial effusion, Edema, Arthrogryposis multiplex congenita OMIM:617822
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Congestive heart failure, Pulmonary edema, Pericardial effusion, Dilated cardiomyopathy, Sudden c... ORPHA:73224
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Pericarditis, Pericardial effusion, Nonimmune hydrops fetalis, Flexion contractur... OMIM:212065
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pleural effusion, Ascites, Pericardial effusion, Hematochezia, Anasarca OMIM:618183
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr... ORPHA:216694
Aicardi-Goutieres Syndrome 7
Hematemesis, Limb hypertonia, Vasculitis, Hypertension, Hypertrophic cardiomyopathy, Pericardial ... OMIM:615846
Poems Syndrome
Pleural effusion, Ascites, Pulmonary arterial hypertension, Pericardial effusion, Edema ORPHA:2905
Aprosencephaly Syndrome
Anencephaly, Aprosencephaly OMIM:207770
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pleural effusion, Pericardial effusion, Epistaxis, Subconjunctival hemorrhage ORPHA:464329
Myhre Syndrome
Skeletal muscle hypertrophy, Hypertension, Birth length less than 3rd percentile, Camptodactyly, ... OMIM:139210
Alg9-Cdg
Atrial septal defect, Hydrops fetalis, Rhizomelia, Torticollis, Abnormal left ventricular outflow... ORPHA:79328
Cardiac Diverticulum
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Mitral valve... ORPHA:1686
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Ascites, Epistaxis, Diffuse alveolar hemorrhage, Myocardi... ORPHA:99827
Aymé-Gripp Syndrome
Postnatal growth retardation, Congenital diaphragmatic hernia, Camptodactyly, Short stature, Peri... ORPHA:1272
Gitelman Syndrome
Delayed puberty, Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ST segmen... ORPHA:358
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension... ORPHA:91347
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Mitral valve prolapse, Umbilical hernia ORPHA:536532
Hennekam Syndrome
Hydrops fetalis, Chylothorax, Lymphedema, Ascites, Pericardial effusion, Camptodactyly of finger,... ORPHA:2136
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele ORPHA:268810
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Chédiak-Higashi Syndrome
Edema, Pericardial effusion, Pleural effusion, Epistaxis ORPHA:167
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Delayed puberty, Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction ... OMIM:300967
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylopericardium, Chylothorax, Lymphedema, Ascites ORPHA:538
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri... OMIM:234700
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Hydrops fetalis, Polyhydramnios, Hypertension, Weak pulse,... ORPHA:51608
Porphyria Due To Ala Dehydratase Deficiency
Depression, Agitation, Abnormal fear-induced behavior, Restlessness ORPHA:100924
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pleural effusion, Pulmonary arterial hypertension OMIM:181000
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior ORPHA:309246
Iniencephaly
Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spina bifida, Holoprosen... ORPHA:63259
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Semilobar Holoprosencephaly
Cyclopia, Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology ORPHA:220386
Alobar Holoprosencephaly
Cyclopia, Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Cyclopia, Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology ORPHA:93926
Lobar Holoprosencephaly
Cyclopia, Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology ORPHA:93924
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Pmm2-Cdg
Angina pectoris, Lymphedema, Hypertrophic cardiomyopathy, Pericarditis, Pericardial effusion, Int... ORPHA:79318
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Angina pectoris, Hypertension, Mitral regurgita... ORPHA:391665
Schinzel-Giedion Syndrome
Abnormal heart morphology, Neural tube defect, Umbilical hernia ORPHA:798
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353277

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 Fhod3

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 Fhod3.

No publications found that use IMPC mice or data for Fhod3.

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MGI Allele Allele Type Produced
Fhod3em1(IMPC)Mbp Exon Deletion Mice, Tissue

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