Gene Summary

anaphase promoting complex subunit 7
APC7,  prediabetic NOD sera-reactive autoantigen

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
decreased hematocrit Anapc7em1(IMPC)J HOM Early adult 9.27×10-18
decreased locomotor activity Anapc7em1(IMPC)J HOM   Early adult 9.67×10-05
decreased mean corpuscular volume Anapc7em1(IMPC)J HOM Early adult 2.37×10-08
abnormal bone structure Anapc7em1(IMPC)J HOM Early adult 1.62×10-08
impaired glucose tolerance Anapc7em1(IMPC)J HOM   Early adult 1.69×10-05
decreased erythrocyte cell number Anapc7em1(IMPC)J HOM Early adult 7.75×10-13
decreased heart rate Anapc7em1(IMPC)J HOM Early adult 2.82×10-07
prolonged RR interval Anapc7em1(IMPC)J HOM Early adult 2.39×10-09
preweaning lethality, incomplete penetrance Anapc7em1(IMPC)J HOM   Early adult 0.00
female infertility Anapc7em1(IMPC)J HOM Early adult 0.00
increased total body fat amount Anapc7em1(IMPC)J HOM Early adult 1.06×10-06
decreased mean corpuscular hemoglobin Anapc7em1(IMPC)J HOM Early adult 5.27×10-07
decreased bone mineral content Anapc7em1(IMPC)J HOM Early adult 1.88×10-06

Download data as:  TSV  XLS

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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.


XRay Images Skull Dorso Ventral Orientation

3 Images

Combined SHIRPA and Dysmorphology


1 Images

Electroretinography 3

Fundus file

9 Images


XRay Images Skull Lateral Orientation

3 Images

Eye Morphology

Images Ophthalmoscopy

3 Images


XRay Images Whole Body Lateral Orientation

3 Images


XRay Images Whole Body Dorso Ventral

3 Images


XRay Images Forepaw

3 Images

Electrocardiogram (ECG)

Waveform Image

15 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Anapc7 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 Anapc7 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Ferguson-Bonni Neurodevelopmental Syndrome
Premature ovarian insufficiency, Congenital diaphragmatic hernia OMIM:619699

The table below shows human diseases predicted to be associated to Anapc7 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Obsessive-comp... ORPHA:66624
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Premature Ovarian Failure 2B
Osteoporosis, Female infertility, Premature ovarian insufficiency, Primary amenorrhea OMIM:300604
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Dysphagia, Dysdiadochokinesis ORPHA:228169
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... OMIM:263300
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Osteoporosis, Sudden cardiac death, Hypertension,... OMIM:610947
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Idiopathic Congenital Hypothyroidism
Lethargy, Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Bradycardia ORPHA:95717
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Paresthesia OMIM:615361
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... OMIM:620044
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Glucose intolerance, Joint contracture of the 5th finger, Bradycardia, Tr... OMIM:614407
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb... OMIM:616216
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Neonatal death, Bradycardia OMIM:620265
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Hypogonadism, Arrhythmia, Gait disturbance, Bradycardia, Premature ovarian insuff... OMIM:609286
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Oligomenorrhea, Female infertility, Menorrhagia OMIM:615555
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal hemoglobin, Hypogonadotrop... ORPHA:848
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Hypoglycemia, Cardiomyopathy, Premature ventricular contract... OMIM:212138
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... OMIM:133100
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Bone Marrow Failure Syndrome 6
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope... OMIM:618849
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... OMIM:261000
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hypoglycemia, Bradycardia OMIM:619048
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Bradycardia OMIM:618815
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Hemochromatosis, Type 4
Impotence, Cardiomyopathy, Glucose intolerance, Arrhythmia, Anemia, Diabetes mellitus, Impaired g... OMIM:606069
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Cardiac arrest, Bradycardia OMIM:618235
Necrotizing Enterocolitis
Hypotension, Shock, Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Bradycardia, Letha... ORPHA:391673
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Osteopenia, Hyperinsulinemia, Splenomegaly, Prolonged QT interval, Lipodystro... OMIM:613327
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Palpitations, R... ORPHA:324575
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Priapism, Persistence ... ORPHA:232
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Second degree atrioventricular block, Extramedullary hematopoi... OMIM:617021
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hyperinsulinemia, Hypoketotic hypoglycemia... ORPHA:276580
Timothy Syndrome
Atrioventricular block, Hypoglycemia, Pulmonary arterial hypertension, Ventricular tachycardia, B... OMIM:601005
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Lethargy, Thrombocytopenia, Bradycardia OMIM:617397
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Familial Thyroid Dyshormonogenesis
Lethargy, Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Bradycardia ORPHA:95716
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Persistent fetal circulation, Thrombocytopenia, Bradycardia, Normoch... OMIM:618775
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatospleno... ORPHA:231222
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Glycogen Storage Disease Iv
Cardiomyopathy, Hepatosplenomegaly, Portal hypertension, Bradycardia, Flexion contracture, Arthro... OMIM:232500
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Postnatal growth retardation, Chorea, Sho... ORPHA:309246
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Lethargy, Neutropenia, Osteop... ORPHA:2169
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Hypoglycemia, Bradycardia OMIM:614702
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Umbilical hernia, Absent ossification of capital femoral epiphys... ORPHA:226313
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
Glutamine Deficiency, Congenital
Neonatal death, Flexion contracture, Camptodactyly, Bradycardia OMIM:610015
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia OMIM:613839
Primary Familial Polycythemia
Epistaxis, Polycythemia, Abnormal hemoglobin ORPHA:90042
Erythrocytosis, Familial, 2
Hypotension, Increased hematocrit, Increased red blood cell mass, Increased circulating hemoglobi... OMIM:263400
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Hip contracture, Neonatal death, Achilles tendon contracture, Bradycardi... OMIM:620351
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Acquired Methemoglobinemia
Palpitations, Methemoglobinemia, Arrhythmia, Syncope, Tachycardia ORPHA:464453
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Anemia, Pericarditis ORPHA:163596
Congenital Dyserythropoietic Anemia Type Iii
Melena, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilo... ORPHA:98870
Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemoglobin Barts, Hepa... ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hyperinsulinemia, Hypoketotic hypoglycemia... ORPHA:276575
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Broad-based gait, Increased HbA2 hemoglobin, Increased bone mineral den... OMIM:616943
Sheehan Syndrome
Hypoglycemia, Palpitations, Decreased female libido, Amenorrhea, Oligomenorrhea, Orthostatic hypo... ORPHA:91355
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Mitral regurgitation, Macrocytic anemia, Persistence of hemogl... OMIM:612561
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:620548
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Joint contracture, Bradycardia OMIM:614498
Hemochromatosis, Type 1
Impotence, Cardiomyopathy, Congestive heart failure, Azoospermia, Glucose intolerance, Splenomega... OMIM:235200
Hyperinsulinism Due To Ucp2 Deficiency
Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Palpitations, Reac... ORPHA:276556
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Splenomegaly, Reticulocyto... OMIM:185000
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Lethargy, Hyperinsulinemic hyp... ORPHA:276608
Sepsis In Premature Infants
Hypotension, Leukocytosis, Splenomegaly, Bradycardia, Thrombocytopenia, Neutropenia, Anemia, Tach... ORPHA:90051
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Budd-Chiari syndrome, Lymphopenia, Leukopenia... OMIM:127550
Combined Oxidative Phosphorylation Defect Type 39
Tip-toe gait, Loss of ambulation, Bradycardia, Neonatal hypoglycemia, Congenital foot contractures ORPHA:565624
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Difficulty walking, Palpitations, Sinus bradycardia, Loss o... OMIM:616812
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Bradycardia, Lethargy, Pulmonary arterial hypertension, Megaloblastic anemia, Thromb... OMIM:277400
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... ORPHA:231226
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia ORPHA:40366
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Beta-Thalassemia Major
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... ORPHA:231214
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Bradycardia ORPHA:90673
Tempi Syndrome
Telangiectasia, Increased hematocrit, Intracranial hemorrhage, Polycythemia ORPHA:284227
Illum Syndrome
Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Lethargy, Spastic ataxia, Increased mean corpuscular volume OMIM:277410
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Premature Ovarian Failure 6
Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Secondary ... OMIM:612310
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Inguinal hernia, Bradycardia OMIM:619272
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, He... OMIM:617052
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility OMIM:617442
Lujo Hemorrhagic Fever
Hypotension, Shock, Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia, Bradycardia, Myocard... ORPHA:319213
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Hypotension, Subconjunctival hemorrhage, Hypoglycemia, Sho... ORPHA:99826
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Diamond-Blackfan Anemia 7
Osteopenia, Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Osteoporosis OMIM:612562
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Leukocytosis, Bradycardia, Arrhythmia, Thro... ORPHA:94093
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis ORPHA:621
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Proximal Spinal Muscular Atrophy
Difficulty walking, Inability to walk, Elbow flexion contracture, Multiple joint contractures, Kn... ORPHA:70
Lead Poisoning
Decreased male libido, Cranial hyperostosis, Imbalanced hemoglobin synthesis, Abnormality of the ... ORPHA:330015
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Portal hypertension, Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Ziegler-Huang Syndrome
Hypogonadism, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
D-Glyceric Aciduria
Hypoglycemia, Bradycardia OMIM:220120
Aromatase Deficiency
Insulin resistance, Osteopenia, Delayed epiphyseal ossification, Female infertility, Type II diab... ORPHA:91
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Hemoth... ORPHA:99827
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Dilated cardiomyopathy, Bradycardia OMIM:610768
Eisenmenger Syndrome
Elevated jugular venous pressure, Right ventricular failure, Tricuspid regurgitation, Palpitation... ORPHA:97214
Stiff-Person Syndrome
Anemia, Tachycardia, Diabetes mellitus, Hypertension OMIM:184850
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... ORPHA:71275
Combined Oxidative Phosphorylation Deficiency 39
Type I diabetes mellitus, Congenital contracture, Sinus bradycardia, Joint contracture, Flexion c... OMIM:618397
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Bradycardia ORPHA:90674
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Loss of ambulation, Premature ovarian insufficiency, Female infertility OMIM:619518
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Aplastic anemia, Increased mean corpuscular volume, Pancytopenia, ... ORPHA:811
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Truncal ataxia, Broad-based gait, Limb ataxia, Persistence of hemoglobin F OMIM:617101
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Conjunctival tela... OMIM:619774
Encephalitis Lethargica
Lethargy, Bradycardia ORPHA:83600
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contracture, Hypertension OMIM:614653
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Male ... ORPHA:261529
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro... ORPHA:98849
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Umbilical hernia, Hypogonadotropic hypogonadism, Lethargy, Delayed proximal femoral... ORPHA:226307
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Elevated dia... ORPHA:90041
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
3-Methylglutaconic Aciduria, Type Viii
Neonatal death, Neonatal hypoglycemia, Neutropenia, Bradycardia OMIM:617248
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Flexion contracture, HbH hemoglobin ORPHA:98791
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Restlessness, Agitation ORPHA:100924
Renal Nutcracker Syndrome
Infertility, Dysmenorrhea, Syncope, Dyspareunia, Orthostatic hypotension, Anemia, Tachycardia ORPHA:71273
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Increased mean corpuscular volume, Mitral regurgitation, Thrombocytopenia ORPHA:261250
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Hypertrophic cardiomyopathy, Hyperinsulinemia, Type II diabetes mellitus, Splen... OMIM:269700
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Polycythemia Vera
Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Polycythemia, Budd-Ch... ORPHA:729
Yellow Fever
Neutrophilia, Shock, Reduced left ventricular ejection fraction, Leukocytosis, Supraventricular a... ORPHA:99829
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Enamel hypoplasia, Bradycardia, Anemia, Osteoporosis ORPHA:79404
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Polysplenia, Asplenia, Male infertility ORPHA:244
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, ... ORPHA:90033
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior rib ends, Acute mye... OMIM:260400
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Umbilical hernia, Persistence of hemoglobin F OMIM:619769
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Bohring-Opitz Syndrome
Inability to walk, Bilateral wrist flexion contracture, Congenital contracture, Bradycardia ORPHA:97297
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Umbilical hernia, Bradycardia OMIM:218700
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia OMIM:261990
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Congenital diaphragmatic hernia, Inguinal hernia, Neonatal death, Scarri... OMIM:614437
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Atypical scarring of skin, Secondary amenorrhea, Female infertility, Hyperinsulinemia... ORPHA:99413
Turner Syndrome
Osteopenia, Atypical scarring of skin, Secondary amenorrhea, Female infertility, Hyperinsulinemia... ORPHA:881
Mosaic Monosomy X
Osteopenia, Atypical scarring of skin, Secondary amenorrhea, Female infertility, Hyperinsulinemia... ORPHA:99228
Monosomy X
Osteopenia, Atypical scarring of skin, Secondary amenorrhea, Female infertility, Hyperinsulinemia... ORPHA:99226
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Amenorrhea OMIM:110100
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Carney Triad
Gastrointestinal hemorrhage, Arrhythmia, Anemia, Tachycardia, Hypertension ORPHA:139411
Aortic valve stenosis, Reduced bone mineral density, Mitral regurgitation, Mitral stenosis, Hyper... ORPHA:56
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Flexion contracture, Abnormal hemoglobin ORPHA:847
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia, Umbilical hernia OMIM:301040
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Female infertility, Streak ovary, Decreased fertility, Oligomenorrhea, Premature ovarian insuffic... ORPHA:572333
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Difficulty walking, Sinus bradycardia OMIM:619482
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability OMIM:219090
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Polycythemia, Facial telangiectasia, Cerebral hemorrhage, Anemia, Fi... OMIM:600376
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Growth delay, Abnormal fear-induced behavior, Emotional lability, Aggres... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Postnatal growth retardation, Intrauteri... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Postnatal growth retardation, Intrauteri... ORPHA:353277
Holt-Oram Syndrome
Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy, Atrioventricular dissocia... OMIM:142900
Ferguson-Bonni Neurodevelopmental Syndrome
Premature ovarian insufficiency, Congenital diaphragmatic hernia OMIM:619699


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 Anapc7

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 Anapc7.

No publications found that use IMPC mice or data for Anapc7.

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MGI Allele Allele Type Produced
Anapc7tm45056(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Anapc7em1(IMPC)J Exon Deletion Mice
Anapc7tm45056(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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