Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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.
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 predicted to be associated to Arap3 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
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 | |
Attention Deficit-Hyperactivity Disorder 8 | Attention deficit hyperactivity disorder | OMIM:619957 | |
Schizophrenia 15 | Hyperactivity | OMIM:613950 | |
Gilles De La Tourette Syndrome | Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... | OMIM:137580 | |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) | Hyperactivity | DECIPHER:20 | |
Autism, Susceptibility To, 20 | Attention deficit hyperactivity disorder, Compulsive behaviors | OMIM:618830 | |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) | Hyperactivity | DECIPHER:19 | |
Intellectual Developmental Disorder, Autosomal Recessive 3 | Hyperactivity | OMIM:608443 | |
Intellectual Developmental Disorder, Autosomal Recessive 37 | Hyperactivity, Bruxism, Aggressive behavior | OMIM:615493 | |
Intellectual Developmental Disorder, Autosomal Dominant 33 | Hyperactivity, Chorioretinal degeneration | OMIM:616311 | |
Intellectual Developmental Disorder, Autosomal Recessive 54 | Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder | OMIM:617028 | |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome | Hyperactivity, Bruxism, Aggressive behavior | ORPHA:356996 | |
Brunner Syndrome | Kinetic tremor, Impulsivity, Aggressive behavior, Self-injurious behavior, Low frustration tolerance | OMIM:300615 | |
Smith-Magenis syndrome | Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation | DECIPHER:8 | |
Intellectual Developmental Disorder, Autosomal Dominant 69 | Attention deficit hyperactivity disorder, Intention tremor | OMIM:617863 | |
Intellectual Developmental Disorder, Autosomal Recessive 2 | Self-injurious behavior, Attention deficit hyperactivity disorder | OMIM:607417 | |
Intellectual Developmental Disorder, X-Linked 72 | Hyperactivity, Abnormal repetitive mannerisms | OMIM:300271 | |
Arteriovenous Malformations Of The Brain | Cerebral arteriovenous malformation | OMIM:108010 | |
Acute Zonal Occult Outer Retinopathy | Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... | ORPHA:284454 | |
Pandas | Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... | ORPHA:66624 | |
Intellectual Developmental Disorder, X-Linked 109 | Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... | OMIM:309548 | |
Fraxe Intellectual Disability | Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... | ORPHA:100973 | |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies | Self-injurious behavior, Hyperactivity, Aggressive behavior | OMIM:619031 | |
Intellectual Developmental Disorder, X-Linked 77 | Hyperactivity | OMIM:300454 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type | Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder | OMIM:301008 | |
Cherubism | Macular scar, Marcus Gunn pupil, Optic neuropathy | OMIM:118400 | |
Hartnup Disorder | Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder | OMIM:234500 | |
Intellectual Developmental Disorder, X-Linked 111 | Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia | OMIM:301107 | |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome | Hyperactivity | ORPHA:436151 | |
Intellectual Developmental Disorder, X-Linked 101 | Hyperactivity, Optic atrophy | OMIM:300928 | |
Developmental And Epileptic Encephalopathy 104 | Self-injurious behavior, Hyperactivity, Agitation | OMIM:619970 | |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities | Tremor, Hyperactivity, Limb dystonia, Aggressive behavior | OMIM:620270 | |
Glycine Encephalopathy 1 | Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability | OMIM:605899 | |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities | Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive mannerisms | OMIM:619470 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type | Hyperactivity, Inflexible adherence to routines | OMIM:301076 | |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome | Pallor | ORPHA:46532 | |
Developmental And Epileptic Encephalopathy 43 | Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder | OMIM:617113 | |
Morm Syndrome | Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior | ORPHA:75858 | |
Methylmalonic Acidemia With Homocystinuria, Type Cbld | Pallor | ORPHA:79283 | |
Peripheral Cone Dystrophy | Pallor | OMIM:609021 | |
Cone-Rod Dystrophy 11 | Pallor | OMIM:610381 | |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome | Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav... | ORPHA:3077 | |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency | Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Dystonia | OMIM:612716 | |
Intellectual Developmental Disorder, X-Linked 104 | Tremor, Hyperactivity, Optic atrophy, Aggressive behavior | OMIM:300983 | |
Hyperprolinemia, Type I | Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior | OMIM:239500 | |
Intellectual Developmental Disorder, Autosomal Dominant 67 | Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder | OMIM:619927 | |
Hyperlysinemia, Type I | Hyperactivity | OMIM:238700 | |
Mannosidosis, Beta A, Lysosomal | Hyperactivity, Aggressive behavior | OMIM:248510 | |
Guanidinoacetate Methyltransferase Deficiency | Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia | ORPHA:382 | |
Dermatitis, Atopic | Dry skin, Pallor, Facial erythema | OMIM:603165 | |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria | Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior | ORPHA:208441 | |
Optic Atrophy 1 | Pallor | OMIM:165500 | |
Breath-Holding Spells | Pallor | OMIM:607578 | |
Acute Peripheral Arterial Occlusion | Pallor | ORPHA:90064 | |
Benign Paroxysmal Torticollis Of Infancy | Pallor | ORPHA:71518 | |
Phenylketonuria | Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... | OMIM:261600 | |
Encephalopathy, Progressive, With Or Without Lipodystrophy | Tremor, Hyperactivity, Dystonia | OMIM:615924 | |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia | Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysm... | OMIM:618718 | |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome | Pallor | ORPHA:2786 | |
8p23.1 deletion syndrome | Hyperactivity | DECIPHER:39 | |
Leber Congenital Amaurosis 14 | Pallor | OMIM:613341 | |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly | Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... | OMIM:619827 | |
Acute Myelomonocytic Leukemia | Pallor | ORPHA:517 | |
Optic Atrophy 7 With Or Without Auditory Neuropathy | Pallor | OMIM:612989 | |
Female Restricted Epilepsy With Intellectual Disability | Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors | ORPHA:101039 | |
Hemoglobin D Disease | Pallor | ORPHA:90039 | |
Intellectual Developmental Disorder, Autosomal Recessive 39 | Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior | OMIM:615541 | |
Primary Lateral Sclerosis, Juvenile | Pallor | OMIM:606353 | |
Congenital Heart Block | Intrauterine growth retardation, Patent ductus arteriosus, Pallor | ORPHA:60041 | |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:617182 | |
X-Linked Sideroblastic Anemia | Pallor | ORPHA:75563 | |
Familial Focal Epilepsy With Variable Foci | Pallor | ORPHA:98820 | |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 | Pallor | OMIM:613561 | |
Intellectual Developmental Disorder, Autosomal Recessive 38 | Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior | OMIM:615516 | |
Gm2 Gangliosidosis, Ab Variant | Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Dystonia, C... | ORPHA:309246 | |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome | Pallor | ORPHA:276608 | |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures | Choreoathetosis, Self-injurious behavior, Hyperactivity, Aggressive behavior | OMIM:620023 | |
Spontaneous Periodic Hypothermia | Pallor | ORPHA:29822 | |
Developmental Delay, Language Impairment, And Ocular Abnormalities | Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... | OMIM:620141 | |
Cyclic Vomiting Syndrome | Pallor | OMIM:500007 | |
Retinitis Pigmentosa 51 | Pallor | OMIM:613464 | |
Thiamine-Responsive Megaloblastic Anemia Syndrome | Pallor | ORPHA:49827 | |
Intellectual Developmental Disorder, X-Linked 107 | Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior | OMIM:301013 | |
Hyperinsulinism Due To Ucp2 Deficiency | Pallor | ORPHA:276556 | |
Evans Syndrome | Pallor, Petechiae | ORPHA:1959 | |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency | Pallor | ORPHA:276575 | |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency | Pallor | ORPHA:276580 | |
Hyperinsulinism Due To Hnf1A Deficiency | Pallor | ORPHA:324575 | |
Myelofibrosis | Pallor, Purpura | OMIM:254450 | |
Anemia, Congenital Dyserythropoietic, Type Ib | Pallor | OMIM:615631 | |
Irida Syndrome | Pallor | ORPHA:209981 | |
Beta-Thalassemia | Pallor, Skin ulcer | ORPHA:848 | |
Leishmaniasis | Pallor, Skin ulcer | ORPHA:507 | |
Myopathic Ehlers-Danlos Syndrome | Pallor | ORPHA:536516 | |
Dravet Syndrome | Pallor | ORPHA:33069 | |
Graves Disease, Susceptibility To, 1 | Irritability, Hyperactivity, Polyphagia | OMIM:275000 | |
Primary Myelofibrosis | Ecchymosis, Pallor, Petechiae, Purpura | ORPHA:824 | |
Hb Bart'S Hydrops Fetalis | Pallor | ORPHA:163596 | |
Kcnq2-Related Epileptic Encephalopathy | Pallor, Facial erythema | ORPHA:439218 | |
Non-Functioning Paraganglioma | Pallor | ORPHA:94080 | |
Symptomatic Form Of Fragile X Syndrome In Female Carriers | Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injurious behavior, Abnormal t... | ORPHA:449291 | |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia | Pallor | OMIM:611590 | |
Drug-Induced Autoimmune Hemolytic Anemia | Pallor | ORPHA:90037 | |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency | Pallor | OMIM:613839 | |
Anemia, Sideroblastic, 1 | Anemic pallor | OMIM:300751 | |
Cold Agglutinin Disease | Pallor | ORPHA:56425 | |
Retinitis Pigmentosa 75 | Pallor | OMIM:617023 | |
Histidinemia | Hyperactivity | ORPHA:2157 | |
Deafness-Lymphedema-Leukemia Syndrome | Pallor | ORPHA:3226 | |
Fanconi Anemia, Complementation Group I | Intrauterine growth retardation, Pallor | OMIM:609053 | |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 | Pallor | OMIM:600462 | |
Mixed-Type Autoimmune Hemolytic Anemia | Pallor | ORPHA:90036 | |
Acquired Idiopathic Sideroblastic Anemia | Pallor | ORPHA:75564 | |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency | Pallor | OMIM:246450 | |
Anemia, Hypochromic Microcytic, With Iron Overload 2 | Pallor | OMIM:615234 | |
Pyruvate Kinase Deficiency Of Red Cells | Intrauterine growth retardation, Pallor | OMIM:266200 | |
Elliptocytosis 1 | Pallor | OMIM:611804 | |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency | Pallor | ORPHA:13 | |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome | Hyperactivity, Aggressive behavior | ORPHA:85327 | |
Rheumatic Fever | Erythema, Pallor | ORPHA:3099 | |
Parkes Weber Syndrome | Myelopathy, Skin ulcer, Scaling skin, Cerebral arteriovenous malformation | ORPHA:90307 | |
Cone-Rod Dystrophy 8 | Pallor | OMIM:605549 | |
Idiopathic Pulmonary Hemosiderosis | Pallor | ORPHA:99931 | |
Tay-Sachs Disease | Pallor | OMIM:272800 | |
Congenital Hyperinsulinism Due To Hnf4A Deficiency | Pallor | ORPHA:263455 | |
American Trypanosomiasis | Pallor | ORPHA:3386 | |
Autoimmune Hemolytic Anemia, Warm Type | Pallor | ORPHA:90033 | |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 | Hyperactivity, Self-biting | OMIM:618314 | |
Neurodegeneration With Brain Iron Accumulation 2B | Hyperactivity, Dystonia, Impulsivity, Optic atrophy, Dysphagia, Emotional lability, Intention tremor | OMIM:610217 | |
Senior-Loken Syndrome 8 | Pallor | OMIM:616307 | |
Plummer-Vinson Syndrome | Pallor | ORPHA:54028 | |
Childhood Absence Epilepsy | Pallor | ORPHA:64280 | |
Letterer-Siwe Disease | Pallor | OMIM:246400 | |
Congenital Dyserythropoietic Anemia Type Iii | Pallor | ORPHA:98870 | |
Familial Gestational Hyperthyroidism | Hyperactivity, Agitation, Hand tremor | ORPHA:99819 | |
Beta-Thalassemia Intermedia | Pallor, Skin ulcer | ORPHA:231222 | |
Hereditary Folate Malabsorption | Pallor | ORPHA:90045 | |
Myopathy, Mitochondrial, And Ataxia | Pallor | OMIM:617675 | |
Sepsis In Premature Infants | Pallor, Petechiae, Purpura | ORPHA:90051 | |
Fructose-1,6-Bisphosphatase Deficiency | Pallor | ORPHA:348 | |
Sporadic Pheochromocytoma/Secreting Paraganglioma | Pallor | ORPHA:276621 | |
Hereditary Spherocytosis | Pallor, Skin ulcer | ORPHA:822 | |
Neurodegeneration With Brain Iron Accumulation 1 | Hyperactivity, Dystonia, Retinal degeneration, Tremor, Optic atrophy, Phonic tics, Depression, Ch... | OMIM:234200 | |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor | Hyperactivity, Agitation, Hand tremor | ORPHA:424 | |
Beta-Ketothiolase Deficiency | Pallor | ORPHA:134 | |
Dominant Beta-Thalassemia | Pallor, Skin ulcer | ORPHA:231226 | |
Waldenström Macroglobulinemia | Pallor, Purpura | ORPHA:33226 | |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency | Pallor | ORPHA:331206 | |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts | Pallor | ORPHA:300298 | |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema | Pallor | OMIM:194380 | |
Imerslund-Gräsbeck Syndrome | Pallor | ORPHA:35858 | |
Non-Functioning Pituitary Adenoma | Pallor | ORPHA:91349 | |
Aregenerative Anemia | Pallor | ORPHA:101096 | |
Adenohypophysitis | Pallor | ORPHA:95512 | |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency | Pallor | OMIM:300908 | |
Panhypophysitis | Pallor | ORPHA:95513 | |
3-Hydroxy-3-Methylglutaric Aciduria | Pallor | ORPHA:20 | |
Retinitis Pigmentosa And Erythrocytic Microcytosis | Pallor | OMIM:616959 | |
Sheehan Syndrome | Dry skin, Pallor | ORPHA:91355 | |
Pituitary Apoplexy | Pallor | ORPHA:95613 | |
Beta-Thalassemia Major | Pallor, Skin ulcer | ORPHA:231214 | |
Hereditary Pheochromocytoma-Paraganglioma | Pallor | ORPHA:29072 | |
Systemic Mastocytosis With Associated Hematologic Neoplasm | Pallor | ORPHA:98849 | |
Prolactinoma | Pallor | ORPHA:2965 | |
Refractory Anemia With Excess Blasts | Anemic pallor | ORPHA:86839 | |
Fumarase Deficiency | Pallor | OMIM:606812 | |
Capillary Malformation-Arteriovenous Malformation | Cerebral arteriovenous malformation | ORPHA:137667 | |
Incontinentia Pigmenti | Erythema, Pallor | OMIM:308300 | |
Alternating Hemiplegia Of Childhood | Pallor | ORPHA:2131 | |
Diamond-Blackfan Anemia 1 | Intrauterine growth retardation, Spina bifida occulta, Pallor | OMIM:105650 | |
Fanconi Anemia, Complementation Group D2 | Patent ductus arteriosus, Anemic pallor | OMIM:227646 | |
Degcags Syndrome | Intrauterine growth retardation, Patent ductus arteriosus, Pallor | OMIM:619488 | |
Pearson Marrow-Pancreas Syndrome | Erythema, Pallor | OMIM:557000 | |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli | Anemic pallor | ORPHA:329971 | |
Fanconi Anemia, Complementation Group C | Intrauterine growth retardation, Anemic pallor | OMIM:227645 | |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome | Cerebral arteriovenous malformation | OMIM:175050 | |
Esophageal Atresia | Pallor | ORPHA:1199 | |
Histiocytoid Cardiomyopathy | Pallor | ORPHA:137675 | |
Idiopathic Hypereosinophilic Syndrome | Pallor | ORPHA:3260 | |
Trichorhinophalangeal Syndrome, Type Ii | Redundant skin in infancy, Dry skin, Cerebral arteriovenous malformation, Cutis laxa | OMIM:150230 | |
Fanconi Anemia, Complementation Group E | Anemic pallor | OMIM:600901 | |
Fanconi Anemia, Complementation Group A | Anemic pallor | OMIM:227650 | |
Tsh-Secreting Pituitary Adenoma | Pallor | ORPHA:91347 | |
Phace Syndrome | Cerebral arteriovenous malformation | ORPHA:42775 | |
Infection-Related Hemolytic Uremic Syndrome | Pallor | ORPHA:544482 | |
Multiple Endocrine Neoplasia Type 2 | Pallor | ORPHA:653 | |
Diamond-Blackfan Anemia | Pallor | ORPHA:124 | |
Autosomal Recessive Malignant Osteopetrosis | Pallor | ORPHA:667 | |
Von Hippel-Lindau Disease | Pallor | ORPHA:892 | |
Telangiectasia, Hereditary Hemorrhagic, Type 4 | Cerebral arteriovenous malformation | OMIM:610655 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 | Pallor | OMIM:253280 | |
Juvenile Polyposis Syndrome | Cerebral arteriovenous malformation | ORPHA:2929 | |
Telangiectasia, Hereditary Hemorrhagic, Type 2 | Cerebral arteriovenous malformation | OMIM:600376 | |
Congenital Total Pulmonary Venous Return Anomaly | Patent ductus arteriosus, Pallor | ORPHA:99125 | |
Telangiectasia, Hereditary Hemorrhagic, Type 1 | Cerebral arteriovenous malformation | OMIM:187300 | |
Goodpasture Syndrome | Pallor | OMIM:233450 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Arap3tm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
Arap3em1(IMPC)J | Exon Deletion | Mice |
Arap3tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
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