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Gene: Zc3h7a MGI:2445044

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Gene Summary

Name:
zinc finger CCCH type containing 7 A
Synonyms:
A430104C18Rik,  Zc3h7

Order Alleles

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 auditory brainstem response Zc3h7aem1(IMPC)J HOM   Early adult 7.56×10-05
decreased thigmotaxis Zc3h7aem1(IMPC)J HOM Early adult 7.88×10-06
hyperactivity Zc3h7aem1(IMPC)J HOM Early adult 9.40×10-05
decreased mean corpuscular hemoglobin Zc3h7aem1(IMPC)J HOM Early adult 2.17×10-07
decreased circulating total protein level Zc3h7aem1(IMPC)J HOM Late adult 4.28×10-05
decreased vertical activity Zc3h7aem1(IMPC)J HOM Late adult 7.47×10-05
decreased mean corpuscular hemoglobin Zc3h7aem1(IMPC)J HOM Late adult 1.57×10-07

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

Images Slit Lamp

1 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

19 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

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Human diseases caused by Zc3h7a 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 Zc3h7a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Schizophrenia 15
Hyperactivity OMIM:613950
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Low-set ears ORPHA:436151
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... OMIM:301008
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia OMIM:619970
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Immunodeficiency 43
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... OMIM:241600
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr... OMIM:603553
Dengue Fever
Lethargy, Thrombocytopenia, Hypoproteinemia, Leukopenia ORPHA:99828
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Hypsarrhythmia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Hyperlysinemia, Type I
Hyperactivity, Anemia OMIM:238700
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Hyperprolinemia, Type I
EEG abnormality, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Ravine Syndrome
Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia OMIM:226300
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Hartnup Disorder
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hypercholest... ORPHA:247585
Primary Intestinal Lymphangiectasia
Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia... ORPHA:90362
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment, Aggressive behavior OMIM:248510
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Hearing impairment, Aggressive behavior ORPHA:208441
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Landau-Kleffner Syndrome
Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive... ORPHA:98818
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... OMIM:617519
Chédiak-Higashi Syndrome
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Ataxia, Inabilit... ORPHA:167
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Lennox-Gastaut Syndrome
EEG abnormality, Hyperactivity, EEG with focal sharp slow waves, Aggressive behavior ORPHA:2382
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... OMIM:600501
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Thrombo... ORPHA:158048
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Hypoproteinemia, ... OMIM:615895
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... OMIM:619827
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggressive behavior,... ORPHA:3077
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Johanson-Blizzard Syndrome
Hypoproteinemia, Anemia ORPHA:2315
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, EEG abnormality, Low-set ears, Bruxism, Abnormal repetiti... OMIM:618718
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Low-set ears, Macrotia, Abnormal re... OMIM:609425
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... OMIM:261600
Intellectual Developmental Disorder, Autosomal Recessive 74
EEG with polyspike wave complexes, Hyperactivity OMIM:617169
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Hypoproteinemia, Hypocalcemia OMIM:235255
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Persistence of hemoglobin F, Microtia, Increased mean corpuscular volume, Atre... OMIM:300946
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Hypoproteinemia, Hypocalcemia, Hepatosplenomegaly ORPHA:1655
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... ORPHA:52368
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... ORPHA:206443
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Irritability, Thrombocytopenia ORPHA:848
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... OMIM:301013
Rasmussen Subacute Encephalitis
Hyperactivity, Increased theta frequency activity in EEG, EEG with focal epileptiform discharges,... ORPHA:1929
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... ORPHA:90041
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, EEG abnormality, Dysphagia ORPHA:500180
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
EEG abnormality, Hyperactivity, Polyphagia, Inappropriate laughter ORPHA:411515
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, EEG with generalized polyspikes, EEG with generalized epilept... ORPHA:163681
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Cupped ear, Persistence of hemoglobin F, Self-injurious behavior, Low-set ears, Overfolded helix,... OMIM:617101
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Hyperactivity, Aggressive behavior, Irritability, Macrotia, Abnormal repetitive mann... ORPHA:391307
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia ORPHA:29073
Neurodevelopmental Disorder With Or Without Autism Or Seizures
EEG with burst suppression, Hyperactivity, Hypsarrhythmia OMIM:619239
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Irritability, Optic atrophy OMIM:616881
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, EEG with spike-wave complexes, Aggressive behavior, EEG with photoparoxysmal respo... ORPHA:168491
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Agit... ORPHA:100924
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity disorder, Ab... OMIM:610042
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular areflexia, Thrombo... ORPHA:3240
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Macrotia, Depression, Irritability, Self-injurious behavior, ... ORPHA:449291
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia ORPHA:621
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Pierson Syndrome
Hypoproteinemia OMIM:609049
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sensorineural hearing im... ORPHA:760
Charcot-Marie-Tooth Disease Type 1F
Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu... ORPHA:101085
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Thrombocytopenia, Cupped ea... OMIM:617052
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, HbH hemoglobin, Microcytic... ORPHA:98791
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Aggressive behavior, Decreased nerve cond... ORPHA:909
Lead Poisoning
Anorexia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Depression, Attention defi... ORPHA:330015
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Juvenile Polyposis Syndrome
Hypoproteinemia, Anemia ORPHA:2929
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Anemia, Macrotia, Abnormality of peripheral n... ORPHA:90321
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Aganglionic megacolon, Abnormal hemoglobin, Sensorineural hearing impairment, Optic atrophy, Depr... ORPHA:847
Histidinemia
Hyperactivity ORPHA:2157
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Abnormal autonomic nervous system physiology, Emotional lability, Postural hypoten... OMIM:256800
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Mend Syndrome
Abnormal auditory evoked potentials, Hyperactivity, Low-set ears, Aggressive behavior ORPHA:401973
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... ORPHA:79330
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Sensorineural hearing impairment, HbH hemoglobin, Low-set ears ORPHA:423479
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Sensorineural hearing impairment, Reduced alpha/beta synthesis ratio, H... OMIM:301040
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Diamond-Blackfan Anemia
Acute myeloid leukemia, Thrombocytosis, Pure red cell aplasia, Erythroid hypoplasia, Reticulocyto... ORPHA:124
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Leptospirosis
Hyperproteinemia, Thrombocytopenia ORPHA:509
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Cockayne Syndrome A
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:216400
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650

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 Zc3h7a

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 Zc3h7a.

No publications found that use IMPC mice or data for Zc3h7a.

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
Zc3h7atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Zc3h7atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Zc3h7aem1(IMPC)J Exon Deletion Mice

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