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
female infertility Anapc7em1(IMPC)J HOM Early adult 0.00
decreased erythrocyte cell number Anapc7em1(IMPC)J HOM Early adult 6.52×10-11
decreased hematocrit Anapc7em1(IMPC)J HOM Early adult 3.92×10-16
prolonged RR interval Anapc7em1(IMPC)J HOM Early adult 5.12×10-07
impaired glucose tolerance Anapc7em1(IMPC)J HOM   Early adult 3.25×10-05
preweaning lethality, incomplete penetrance Anapc7em1(IMPC)J HOM   Early adult 0.00
decreased bone mineral content Anapc7em1(IMPC)J HOM Early adult 1.91×10-06
decreased mean corpuscular hemoglobin Anapc7em1(IMPC)J HOM Early adult 2.85×10-07
decreased heart rate Anapc7em1(IMPC)J HOM Early adult 2.82×10-07
increased total body fat amount Anapc7em1(IMPC)J HOM Early adult 1.11×10-06
decreased mean corpuscular volume Anapc7em1(IMPC)J HOM Early adult 2.18×10-08
abnormal bone structure Anapc7em1(IMPC)J HOM Early adult 2.01×10-08
abnormal auditory brainstem response Anapc7em1(IMPC)J HOM   Early adult 8.89×10-06

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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.


XRay Images Skull Dorso Ventral Orientation

3 Images

Electrocardiogram (ECG)

Waveform Image

15 Images


XRay Images Skull Lateral Orientation

3 Images


XRay Images Forepaw

3 Images


XRay Images Whole Body Lateral Orientation

3 Images


XRay Images Whole Body Dorso Ventral

3 Images

Combined SHIRPA and Dysmorphology


1 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
Hearing impairment, 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
Persistent Idiopathic Facial Pain
Somatic sensory dysfunction, Impaired pain sensation, Anxiety, Paresthesia, Depression ORPHA:398147
Chorea, Benign Hereditary
Anxiety, Chorea, Gait disturbance OMIM:118700
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Abnormal bone structure ORPHA:46532
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Hearing impairment OMIM:614896
Atrial Standstill
Atrial standstill, Flexion contracture, Ventricular tachycardia, Arrhythmia, Congestive heart fai... ORPHA:1344
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Huntington Disease-Like 1
Dysmetria, Anxiety, Aggressive behavior, Unsteady gait, Chorea, Depression OMIM:603218
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Short stature, Ataxia OMIM:616113
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Anxiety, Ataxia, Depression, Difficulty walking OMIM:619191
Huntington Disease-Like 2
Anxiety, Bradykinesia, Apathy, Irritability, Chorea, Depression OMIM:606438
Hypocalcemia, Autosomal Dominant 2
Paresthesia, Postnatal growth retardation OMIM:615361
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... OMIM:601419
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
3-Methylglutaconic Aciduria, Type Viii
Neutropenia, Sensorineural hearing impairment, Bradycardia OMIM:617248
Splenomegaly, Neutropenia, Anemia, Hypertension, Tachycardia OMIM:602079
Hemoglobin E Disease
Splenomegaly, Miscarriage, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequ... ORPHA:2133
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... ORPHA:66624
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Shuffling gait, Inertia, Anxiety, Bradykinesia, Inappropriate behav... ORPHA:412066
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Gastrointestinal hemorrhage, Increased hematocrit, Thrombocyt... OMIM:263300
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, EEG abnormality, Flexion contracture, Hypertrophic cardiomyopathy, Bradyc... OMIM:618815
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Sudden cardiac death, Myocardial infarction, Hypertension, Diabetes mellitus, Gluco... OMIM:610947
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Osteoporosi... ORPHA:232
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Flexion contracture, Abnormal autonomic nervous system physiology, Inguinal hernia, Bradycardia, ... OMIM:614498
Lissencephaly, X-Linked, 1
Postnatal growth retardation, Ataxia OMIM:300067
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation, Arrhythmia OMIM:614302
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Prominent antihelix, Joint contracture of the 5th finger, Atrioventricular block, Macrotia, Brady... OMIM:614407
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Microcytic anemia, Hypogonadotropic hypogonadism, Hypertrophic cardiomyopathy, Splenomegaly, Anem... ORPHA:848
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Abnormal autonomic ... ORPHA:101016
Erythrocytosis, Familial, 1
Increased hemoglobin, Increased hematocrit, Splenomegaly, Myocardial infarction, Hypertension, Ce... OMIM:133100
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Hypoglycemia, Congestive heart failure OMIM:619048
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive hearing impairment, Arrhythmia, Cardiomyopathy, Diabetes mellitus, Bradycardia, Prema... OMIM:609286
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Osteopenia, Flexion contracture, Hyperinsulinemia, Insulin resistance, Osteoporosi... OMIM:613327
Basal Ganglia Calcification, Idiopathic, 5
Anxiety, Athetosis, Apathy, Chorea, Depression OMIM:615483
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Bone Marrow Failure Syndrome 6
Osteopenia, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, ... OMIM:618849
Hemochromatosis, Type 4
Arrhythmia, Anemia, Impotence, Cardiomyopathy, Diabetes mellitus, Glucose intolerance, Impaired g... OMIM:606069
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Idiopathic Congenital Hypothyroidism
Bradycardia, Umbilical hernia, Delayed proximal femoral epiphyseal ossification ORPHA:95717
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Necrotizing Enterocolitis
Leukocytosis, Shock, Hypotension, Neutropenia, Bradycardia, Hyperglycemia, Thrombocytopenia, Abno... ORPHA:391673
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:261000
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Dehydrated Hereditary Stomatocytosis
Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular hemoglobin concent... ORPHA:3202
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Papilledema, Bradycardia, Normochromic anemia, Persistent fetal circ... OMIM:618775
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hypoglycemia, Cardiac arrest, Premature ventricular contraction, Ventricul... OMIM:212138
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Optic Atrophy 8
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Mitral regurgitation, Prol... OMIM:616648
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, H... ORPHA:542306
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Autonomic bladder dysfunction, Abnormal EKG, Hypertrophic c... ORPHA:330001
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Palpitations, Absent P ... OMIM:615745
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Sudden Cardiac Failure, Infantile
Bradycardia, Hypertrophic cardiomyopathy, Myocarditis, Congestive heart failure OMIM:617222
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Jervell And Lange-Nielsen Syndrome
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Iron deficiency anemia, Bilateral senso... ORPHA:90647
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Sensorineural hearing impairment, Ankle flexion contracture, Facial palsy, Absen... OMIM:617519
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Glutamine Deficiency, Congenital
Flexion contracture, Low-set ears, Bradycardia, Neonatal death, Camptodactyly OMIM:610015
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Timothy Syndrome
Bradycardia, Prolonged QT interval, Hypoglycemia OMIM:601005
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Hypertension, Stomatocytosis, Reticulocytosis, Episodic hemoly... ORPHA:90044
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Umbilical hernia, Bradycardia, Absent ossification of capital fe... ORPHA:226313
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Abnormal aggressive, impulsive or violent behavior, Aggressive behavior, Short st... ORPHA:3077
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Osteopenia, High-output congestive heart failure, Splenomegaly,... ORPHA:231222
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Familial Thyroid Dyshormonogenesis
Bradycardia, Sensorineural hearing impairment, Umbilical hernia, Delayed proximal femoral epiphys... ORPHA:95716
Sheehan Syndrome
Orthostatic hypotension, Hypoglycemia, Decreased female libido, Amenorrhea, Bradycardia, Sensorin... ORPHA:91355
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Fasting hypoglycemia, Neonatal hypoglycemia, Hyperin... ORPHA:324575
Erythrocytosis, Familial, 2
Increased hemoglobin, Increased hematocrit, Hypotension, Pulmonary arterial hypertension, Cerebra... OMIM:263400
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemia, Hypertrophic cardiomyopathy, Palpi... ORPHA:276580
Attrv122I Amyloidosis
Abnormality of enteric nervous system morphology, Reduced ejection fraction, Arrhythmia, Congesti... ORPHA:85451
Gm2 Gangliosidosis, Ab Variant
Anxiety, Inappropriate behavior, Short stature, Chorea, Postnatal growth retardation, Abnormal fe... ORPHA:309246
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Splenomegaly, Anemia, Pericarditis, Abnormal hemoglobin ORPHA:163596
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Melena, Abnormal erythrocyte morphology,... ORPHA:98870
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Primary Familial Polycythemia
Abnormal hemoglobin, Epistaxis, Polycythemia ORPHA:90042
Acitretin/Etretinate Embryopathy
Cupped ear, Bradycardia, Third degree atrioventricular block, Microtia, Bilateral sensorineural h... ORPHA:40366
Acquired Methemoglobinemia
Arrhythmia, Palpitations, Syncope, Tachycardia, Methemoglobinemia ORPHA:464453
Infant Acute Respiratory Distress Syndrome
Bradycardia, Tachycardia, Hypotension, Cardiac arrest ORPHA:70587
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Combined Oxidative Phosphorylation Defect Type 39
EEG abnormality, Neonatal hypoglycemia, Decreased nerve conduction velocity, Congenital foot cont... ORPHA:565624
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Methylcobalamin Deficiency Type Cble
Pancytopenia, Osteoporosis, Neutropenia, Increased mean corpuscular volume, Hypertension, Macrocy... ORPHA:2169
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Hypertension, Bradyc... ORPHA:3299
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Mitral regurgitation, Macrocytic ... OMIM:612561
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Arrhythmia, Congestive heart failure, Azoospermia, Amenorrhea, Spl... OMIM:235200
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... ORPHA:563
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Hypotension, Neutropenia, Anemia, Bradycardia, Tachycardia, Thrombocy... ORPHA:90051
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Cardiomyopathy, Diabetes mellitus, ... ORPHA:1215
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Shortened PR interval, Congestive heart failure, Hypotension, Cardiomyopat... OMIM:261740
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemia, Hypertrophic cardiomyopathy, Palpi... ORPHA:276575
Aapoaiv Amyloidosis
Sinus bradycardia, Atrial flutter, Left ventricular outflow tract obstruction, Hypertrophic cardi... ORPHA:439232
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia, Thrombocytopenia OMIM:617397
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Sick sinus syn... OMIM:163800
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231226
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Illum Syndrome
Bradycardia, Arthrogryposis multiplex congenita OMIM:208155
Diamond-Blackfan Anemia 7
Osteopenia, Atresia of the external auditory canal, Osteoporosis, Neutropenia, Increased mean cor... OMIM:612562
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Flexion contracture, Corneal scarring, Low-set ears, Bradycardia, Tachycardia OMIM:614653
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Estrogen Resistance
Osteopenia, Primary amenorrhea, Hyperinsulinemia, Glucose intolerance, Impaired glucose tolerance OMIM:615363
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Increased hematocrit, Polycythemia ORPHA:284227
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Reactive hypoglycemia... ORPHA:276556
Neuroleptic Malignant Syndrome
Leukocytosis, Arrhythmia, Thrombocytosis, Pulmonary embolism, Hypotension, Abnormal autonomic ner... ORPHA:94093
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Mitochondrial Complex I Deficiency, Nuclear Type 37
Inguinal hernia, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Thrombocytopenia, Hypochromic microcyt... ORPHA:3240
Rh Deficiency Syndrome
Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Miscarriage, Spherocytosis, Hemolytic anemia... ORPHA:71275
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Hypoketotic hypoglycemia, Tachycar... ORPHA:276608
Glossopharyngeal Neuralgia
Bradycardia, Jaw claudication, Cranial nerve compression, Syncope, Abnormal glossopharyngeal nerv... ORPHA:221098
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Lujo Hemorrhagic Fever
Subconjunctival hemorrhage, Leukocytosis, Leukopenia, Shock, Hypotension, Myocarditis, Lymphopeni... ORPHA:319213
Premature Ovarian Failure 6
Primary amenorrhea, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency, St... OMIM:612310
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
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
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Subconjunctival hemorrhage, Bundle branch block, Hypertension, Hematemesis, Subdura... ORPHA:99827
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventric... OMIM:614954
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Normocytic anemia, Leukemia, Impaired neutrophil chemotaxis, Transient ... ORPHA:811
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Subconjunctival hemorrhage, Hypoglycemia, Leukopenia, Hypovolemia... ORPHA:99826
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Craniosynostosis, Sensorineur... OMIM:201050
Aromatase Deficiency
Osteopenia, Insulin resistance, Primary amenorrhea, Osteoporosis, Male infertility, Type II diabe... ORPHA:91
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Premature atrial contractions, Mobitz I atrioventricular blo... ORPHA:216694
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio, Sensorineural hearing impairment OMIM:609057
Arthrogryposis, Distal, Type 2A
Elbow flexion contracture, Hernia, Knee flexion contracture, Inguinal hernia, Abnormal auditory e... OMIM:193700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Sinus bradycardia, Syncope, Atrioventricular block OMIM:616812
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia, Umbilical hernia, Delayed proximal femoral epiphyseal ossification ORPHA:90673
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemolytic anemia ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemolytic anemia ORPHA:529799
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Optic nerve hypoplasia, Increased mean corpuscular volume, Protruding ear... ORPHA:261250
Proximal Spinal Muscular Atrophy
Flexion contracture, Multiple joint contractures, Knee flexion contracture, Bradycardia, Elbow fl... ORPHA:70
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure ORPHA:90037
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Enamel hypoplasia, Anemia, Hypertension, Macrotia,... ORPHA:90321
Lead Poisoning
Cranial hyperostosis, Infertility, Abnormality of the autonomic nervous system, Abnormal sperm mo... ORPHA:330015
Renal Nutcracker Syndrome
Infertility, Orthostatic hypotension, Dysmenorrhea, Abnormal autonomic nervous system physiology,... ORPHA:71273
Myotonic Dystrophy 2
Hypogonadism, Oligospermia, Diabetes mellitus, Palpitations, Tachycardia, Insulin insensitivity OMIM:602668
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Flexion contracture, HbH hemoglobin, Low-set, posteriorly rotated ears, Aplasi... ORPHA:98791
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Poems Syndrome
Lipodystrophy, Sclerosis of foot bone, Thrombocytosis, Sclerosis of hand bone, Erectile dysfuncti... ORPHA:2905
Ring Chromosome Y Syndrome
Azoospermia, Abnormal spermatogenesis, Male hypogonadism, Male infertility, Female infertility, S... ORPHA:261529
Eisenmenger Syndrome
Left-to-right shunt, Increased pulmonary vascular resistance, Right bundle branch block, Iron def... ORPHA:97214
Primary Ciliary Dyskinesia
Conductive hearing impairment, Abnormal sperm motility, Male infertility, Asplenia, Female infert... ORPHA:244
Relapsing Fever
Leukopenia, Leukocytosis, Neutrophilia, Hypotension, Anemia, Tachycardia, Thrombocytopenia, Epist... ORPHA:91547
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Cockayne Syndrome A
Irregular menstruation, Atypical scarring of skin, Arrhythmia, Enamel hypoplasia, Ivory epiphyses... OMIM:216400
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Prelingual sensorineural hearing impairment, Sens... ORPHA:52368
Pericardial Effusion, Chronic
Constrictive pericarditis, Polycythemia OMIM:260900
Stiff-Person Syndrome
Anemia, Hypertension, Diabetes mellitus, Tachycardia OMIM:184850
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Sensorineural hearing impairment, Premature ovarian insufficiency OMIM:619518
Blackfan-Diamond Anemia
Leukopenia, Low-set ears, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Microtia,... ORPHA:124
Yellow Fever
Leukocytosis, Reduced ejection fraction, Shock, Neutrophilia, Capillary leak, Internal hemorrhage... ORPHA:99829
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Hypoglycemia, Delayed proximal femoral epiphyseal ossification, Se... ORPHA:226307
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Umbilical hernia, Delayed proximal femoral epiphyseal ossification ORPHA:90674
Duodenal Neuroendocrine Tumor
Arrhythmia, Increased hematocrit, Cardiogenic shock, Tricuspid stenosis, Hypotension, Pulmonic st... ORPHA:100076
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Gaisböck Syndrome
Hypovolemia, Increased hematocrit, Elevated diastolic blood pressure, Increased mean corpuscular ... ORPHA:90041
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Cockayne Syndrome B
Atypical scarring of skin, Arrhythmia, Ivory epiphyses of the phalanges of the hand, Sensorineura... OMIM:133540
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Autoimmune hemolytic anemia, Splenomegaly, Tachycardia, Chronic lymphat... ORPHA:90033
Erythrocytosis, Familial, 8
Normocytic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Polycythemia, Normochromic anemia OMIM:222800
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Orthostatic h... ORPHA:99027
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Enamel hypoplasia, Osteoporosis, Anemia, Bradycardia ORPHA:79404
Encephalitis Lethargica
Bradycardia ORPHA:83600
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Irregular ossification at anterior rib ends, Neutropenia, A... OMIM:260400
Coronary Arterial Fistula
Continuous heart murmur, Elevated jugular venous pressure, Systolic heart murmur, Arrhythmia, Abn... ORPHA:2041
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia ORPHA:90036
Adult Krabbe Disease
Erectile dysfunction, EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Tropical Endomyocardial Fibrosis
Abnormal ST segment, Right bundle branch block, Left bundle branch block, Atrial fibrillation, Pu... ORPHA:75565
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnormal hea... ORPHA:206436
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
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
Bohring-Opitz Syndrome
Bilateral wrist flexion contracture, Low-set, posteriorly rotated ears, Bradycardia, Optic atroph... ORPHA:97297
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hepatosplenomegaly, Portal hypertension, Sensorineural hearing impairment, Aganglionic megacolon,... OMIM:609136
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Low-set ears, Sensorineural hearing impairment, Microtia, HbH hemoglobin, Posteriorly rotated ear... OMIM:301040
Hepatosplenomegaly, Sensorineural hearing impairment, Absent brainstem auditory responses, Thromb... ORPHA:79330
Blepharophimosis, Ptosis, And Epicanthus Inversus
Cupped ear, Irregular menstruation, Amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:110100
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Low-set ears, Congenital diaphragmatic hernia, Inguinal hernia, Bradycardia OMIM:614437
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Flexion contracture, Sensorineural hearing impairment, Aganglionic megacolon, Anemia, Abnormal he... ORPHA:847
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, Microtia, HbH hemoglobin OMIM:141750
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Optic nerve hypoplasia, Decreased nerve conduction velocity, Ab... ORPHA:101085
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Atypical scarring of skin, Low-set ears, Hyperinsulinemia, Primary amenorrhea, Osteop... ORPHA:99413
Turner Syndrome
Osteopenia, Atypical scarring of skin, Low-set ears, Hyperinsulinemia, Primary amenorrhea, Osteop... ORPHA:881
Mosaic Monosomy X
Osteopenia, Atypical scarring of skin, Low-set ears, Hyperinsulinemia, Primary amenorrhea, Osteop... ORPHA:99228
Monosomy X
Osteopenia, Atypical scarring of skin, Low-set ears, Hyperinsulinemia, Primary amenorrhea, Osteop... ORPHA:99226
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Elevated jugular venous pressure, Systolic heart murm... ORPHA:1329
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Carney Triad
Gastrointestinal hemorrhage, Arrhythmia, Anemia, Hypertension, Tachycardia ORPHA:139411
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Osteopenia, Optic neuropathy, Osteoporosis, Decre... ORPHA:909
Histiocytoid Cardiomyopathy
Hypoglycemia, Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart fa... ORPHA:137675
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia, Umbilical hernia OMIM:218700
Trisomy 10P
Flexion contracture of thumb, Low-set ears, EEG with burst suppression, Abnormal auditory evoked ... ORPHA:171929
Scorpion Envenomation
Glycosuria, Increased circulating troponin I concentration, Priapism, Premature ventricular contr... ORPHA:466677
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Low-set ears, Secondary amenorrhea, Female infertility, Premature ovarian in... ORPHA:572333
Mend Syndrome
Abnormal auditory evoked potentials, Aortic valve stenosis, Low-set ears ORPHA:401973
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nail bed telangiectasia, Anemia, Gastrointestinal telangiectasia, Hypertension, Hematemesis, Nasa... OMIM:600376
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Ferguson-Bonni Neurodevelopmental Syndrome
Hearing impairment, 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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