The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.
| Phenotype | System | Allele | Zyg | Sex | Life Stage | P Value |
|---|---|---|---|---|---|---|
| abnormal placenta size | Ankmy2em1(IMPC)Bay | HET | E12.5 | 0.00 | ||
| abnormal neural tube closure | Ankmy2em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
| abnormal placenta development | Ankmy2em1(IMPC)Bay | HET | E12.5 | 0.00 | ||
| abnormal embryo turning | Ankmy2em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
| preweaning lethality, complete penetrance | Ankmy2em1(IMPC)Bay | HOM | Early adult | 0.00 | ||
| abnormal embryo size | Ankmy2em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
| abnormal vitelline vasculature morphology | Ankmy2em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
| abnormal embryo size | Ankmy2em1(IMPC)Bay | HET | E12.5 | 0.00 | ||
| abnormal embryo development | Ankmy2em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
| abnormal pharyngeal arch morphology | Ankmy2em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
| abnormal neural tube morphology | Ankmy2em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
| abnormal somite shape | Ankmy2em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
| prenatal lethality prior to heart atrial septation | Ankmy2em1(IMPC)Bay | HOM | E15.5 | 0.00 | ||
| abnormal heart morphology | Ankmy2em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
| abnormal hindbrain development | Ankmy2em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
| abnormal midbrain development | Ankmy2em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
| abnormal forebrain development | Ankmy2em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
| pallor | Ankmy2em1(IMPC)Bay | HET | E12.5 | 0.00 | ||
| embryonic growth retardation | Ankmy2em1(IMPC)Bay | HET | E12.5 | 0.00 |
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 Ankmy2 by phenotypic similarity.
| Disease | Similarity of phenotypes |
Matching phenotypes | Source |
|---|---|---|---|
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 | Neural tube defect | OMIM:615041 | |
| Neural Tube Defects, Folate-Sensitive | Spinal dysraphism | OMIM:601634 | |
| Lambert Syndrome | Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect | ORPHA:1296 | |
| Spina Bifida-Hypospadias Syndrome | Spina bifida, Spinal dysraphism | ORPHA:3176 | |
| Myelopathy, Htlv-1-Associated | Myelopathy | OMIM:159580 | |
| Anencephaly 1 | Anencephaly, Spina bifida | OMIM:206500 | |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome | Pallor | ORPHA:46532 | |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld | Pallor | ORPHA:79283 | |
| Cone-Rod Dystrophy 11 | Pallor | OMIM:610381 | |
| Peripheral Cone Dystrophy | Pallor | OMIM:609021 | |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome | Short stature, Pallor | ORPHA:2786 | |
| Breath-Holding Spells | Pallor | OMIM:607578 | |
| Dermatitis, Atopic | Dry skin, Pallor, Facial erythema | OMIM:603165 | |
| Benign Paroxysmal Torticollis Of Infancy | Pallor | ORPHA:71518 | |
| Optic Atrophy 1 | Pallor | OMIM:165500 | |
| Fryns Microphthalmia Syndrome | Neural tube defect | OMIM:600776 | |
| Isolated Anencephaly/Exencephaly | Anencephaly | ORPHA:1048 | |
| Acute Peripheral Arterial Occlusion | Pallor | ORPHA:90064 | |
| X-Linked Mandibulofacial Dysostosis | Abnormal mitral valve morphology, Branchial anomaly, Pulmonic stenosis, Webbed neck | ORPHA:1131 | |
| Verheij Syndrome | Branchial cyst, Ventricular septal defect, Short neck, Intrauterine growth retardation, Truncus a... | OMIM:615583 | |
| Branchiogenic-Deafness Syndrome | Branchial cyst, Branchial fistula | OMIM:609166 | |
| Leber Congenital Amaurosis 14 | Pallor | OMIM:613341 | |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome | Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida | ORPHA:2476 | |
| Acute Myelomonocytic Leukemia | Pallor | ORPHA:517 | |
| Branchiootic Syndrome 3 | Branchial cyst | OMIM:608389 | |
| Aplasia Cutis Congenita | Spinal dysraphism | ORPHA:1114 | |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 | Growth delay, Pallor | OMIM:613561 | |
| Optic Atrophy 7 With Or Without Auditory Neuropathy | Pallor | OMIM:612989 | |
| Neural Tube Defects, Susceptibility To | Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly | OMIM:182940 | |
| X-Linked Sideroblastic Anemia | Pallor | ORPHA:75563 | |
| Hemoglobin D Disease | Pallor | ORPHA:90039 | |
| Anemia, Congenital Dyserythropoietic, Type Ib | Growth delay, Short stature, Pallor | OMIM:615631 | |
| Primary Lateral Sclerosis, Juvenile | Pallor | OMIM:606353 | |
| Branchiootic Syndrome 1 | Branchial fistula | OMIM:602588 | |
| Familial Focal Epilepsy With Variable Foci | Pallor | ORPHA:98820 | |
| Cyclic Vomiting Syndrome | Growth delay, Pallor | OMIM:500007 | |
| Thiamine-Responsive Megaloblastic Anemia Syndrome | Short stature, Pallor | ORPHA:49827 | |
| Aminopterin/Methotrexate Embryofetopathy | Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... | ORPHA:1908 | |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome | Branchial cyst | ORPHA:435938 | |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome | Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... | ORPHA:453499 | |
| Branchiogenic Deafness Syndrome | Branchial cyst, Branchial fistula | ORPHA:50815 | |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome | Pallor | ORPHA:276608 | |
| Congenital Heart Block | Intrauterine growth retardation, Pallor | ORPHA:60041 | |
| Holoprosencephaly | Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... | ORPHA:2162 | |
| Spontaneous Periodic Hypothermia | Pallor | ORPHA:29822 | |
| Blepharocheilodontic Syndrome 1 | Neural tube defect | OMIM:119580 | |
| Myelofibrosis | Pallor, Purpura | OMIM:254450 | |
| Retinitis Pigmentosa 51 | Pallor | OMIM:613464 | |
| Isolated Posterior Meningocele | Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... | ORPHA:268810 | |
| Evans Syndrome | Pallor, Petechiae | ORPHA:1959 | |
| Irida Syndrome | Pallor | ORPHA:209981 | |
| Aprosencephaly Syndrome | Aprosencephaly, Anencephaly | OMIM:207770 | |
| Craniorachischisis | Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism | ORPHA:63260 | |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia | Short stature, Pallor | OMIM:611590 | |
| Pyruvate Kinase Deficiency Of Red Cells | Intrauterine growth retardation, Pallor | OMIM:266200 | |
| Hyperinsulinism Due To Ucp2 Deficiency | Pallor | ORPHA:276556 | |
| Branchiootic Syndrome | Branchial fistula | ORPHA:52429 | |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 | Growth delay, Pallor | OMIM:615234 | |
| 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 | |
| Alg3-Cdg | Neural tube defect, Cardiomyopathy | ORPHA:79321 | |
| Bor Syndrome | Branchial cyst | ORPHA:107 | |
| Branchiootorenal Syndrome 1 | Branchial cyst, Branchial fistula | OMIM:113650 | |
| Beta-Thalassemia | Pallor, Skin ulcer | ORPHA:848 | |
| Distal 22Q11.2 Microduplication Syndrome | Branchial fistula, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Low poster... | ORPHA:261337 | |
| Joubert Syndrome 15 | Exencephaly | OMIM:614464 | |
| Fanconi Anemia, Complementation Group I | Intrauterine growth retardation, Short stature, Pallor | OMIM:609053 | |
| Leishmaniasis | Pallor, Skin ulcer | ORPHA:507 | |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 | Growth delay, Pallor, Delayed puberty | OMIM:600462 | |
| Hb Bart'S Hydrops Fetalis | Pallor | ORPHA:163596 | |
| Anemia, Sideroblastic, 1 | Anemic pallor | OMIM:300751 | |
| Myopathic Ehlers-Danlos Syndrome | Pallor | ORPHA:536516 | |
| Dravet Syndrome | Pallor | ORPHA:33069 | |
| Primary Myelofibrosis | Ecchymosis, Pallor, Petechiae, Purpura | ORPHA:824 | |
| Kcnq2-Related Epileptic Encephalopathy | Pallor, Facial erythema | ORPHA:439218 | |
| Drug-Induced Autoimmune Hemolytic Anemia | Pallor | ORPHA:90037 | |
| Retinitis Pigmentosa 75 | Pallor | OMIM:617023 | |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation | Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... | ORPHA:453504 | |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion | Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... | ORPHA:352665 | |
| Oligomeganephronia | Branchial cyst, Secundum atrial septal defect | ORPHA:2260 | |
| Non-Functioning Paraganglioma | Pallor | ORPHA:94080 | |
| Elliptocytosis 1 | Pallor | OMIM:611804 | |
| Distal 22Q11.2 Microdeletion Syndrome | Branchial fistula, Ventricular septal defect, Atrial septal defect, Intrauterine growth retardati... | ORPHA:261330 | |
| Cold Agglutinin Disease | Pallor | ORPHA:56425 | |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency | Pallor | OMIM:613839 | |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 | Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect, Mitral st... | OMIM:617660 | |
| Mixed-Type Autoimmune Hemolytic Anemia | Pallor | ORPHA:90036 | |
| Congenital Dyserythropoietic Anemia Type Iii | Short stature, Pallor | ORPHA:98870 | |
| Deafness-Lymphedema-Leukemia Syndrome | Pallor | ORPHA:3226 | |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation | Branchial anomaly | ORPHA:466950 | |
| Acquired Idiopathic Sideroblastic Anemia | Pallor | ORPHA:75564 | |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency | Pallor | OMIM:246450 | |
| Cone-Rod Dystrophy 8 | Pallor | OMIM:605549 | |
| Treacher-Collins Syndrome | Encephalocele, Branchial fistula, Patent ductus arteriosus | ORPHA:861 | |
| Tay-Sachs Disease | Pallor | OMIM:272800 | |
| Myopathy, Mitochondrial, And Ataxia | Growth delay, Short stature, Pallor | OMIM:617675 | |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency | Pallor | ORPHA:13 | |
| Rheumatic Fever | Erythema, Pallor | ORPHA:3099 | |
| Idiopathic Pulmonary Hemosiderosis | Pallor | ORPHA:99931 | |
| 8Q24.3 Microdeletion Syndrome | Branchial cyst, Ventricular septal defect, Short neck, Atrioventricular canal defect, Complete at... | ORPHA:508488 | |
| American Trypanosomiasis | Pallor | ORPHA:3386 | |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency | Pallor | ORPHA:263455 | |
| Autoimmune Hemolytic Anemia, Warm Type | Pallor | ORPHA:90033 | |
| Hereditary Spherocytosis | Growth delay, Pallor, Skin ulcer | ORPHA:822 | |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts | Growth delay, Pallor | ORPHA:300298 | |
| Iniencephaly | Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... | ORPHA:63259 | |
| Senior-Loken Syndrome 8 | Pallor | OMIM:616307 | |
| Plummer-Vinson Syndrome | Pallor | ORPHA:54028 | |
| Sacral Defect With Anterior Meningocele | Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract | OMIM:600145 | |
| Childhood Absence Epilepsy | Pallor | ORPHA:64280 | |
| Letterer-Siwe Disease | Pallor | OMIM:246400 | |
| Dominant Beta-Thalassemia | Growth delay, Pallor, Skin ulcer, Delayed puberty | ORPHA:231226 | |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome | Branchial cyst, Natal tooth, Atrial septal defect, Intrauterine growth retardation, Patent forame... | OMIM:620186 | |
| Hereditary Folate Malabsorption | Pallor | ORPHA:90045 | |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli | Growth delay, Anemic pallor | ORPHA:329971 | |
| Beta-Thalassemia Intermedia | Pallor, Skin ulcer | ORPHA:231222 | |
| Sepsis In Premature Infants | Pallor, Petechiae, Purpura | ORPHA:90051 | |
| Fructose-1,6-Bisphosphatase Deficiency | Pallor | ORPHA:348 | |
| Sporadic Pheochromocytoma/Secreting Paraganglioma | Pallor | ORPHA:276621 | |
| Beta-Thalassemia Major | Growth delay, Pallor, Skin ulcer, Delayed puberty | ORPHA:231214 | |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema | Pallor | OMIM:194380 | |
| Beta-Ketothiolase Deficiency | Pallor | ORPHA:134 | |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency | Pallor | ORPHA:331206 | |
| Waldenström Macroglobulinemia | Pallor, Purpura | ORPHA:33226 | |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency | Pallor | OMIM:300908 | |
| Imerslund-Gräsbeck Syndrome | Pallor | ORPHA:35858 | |
| Craniofacial Microsomia 1 | Occipital encephalocele, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Bran... | OMIM:164210 | |
| Aregenerative Anemia | Pallor | ORPHA:101096 | |
| Prolactinoma | Pallor, Delayed puberty | ORPHA:2965 | |
| Non-Functioning Pituitary Adenoma | Pallor | ORPHA:91349 | |
| Retinitis Pigmentosa And Erythrocytic Microcytosis | Pallor | OMIM:616959 | |
| Adenohypophysitis | Pallor | ORPHA:95512 | |
| Incontinentia Pigmenti | Erythema, Short stature, Pallor | OMIM:308300 | |
| Panhypophysitis | Pallor | ORPHA:95513 | |
| 3-Hydroxy-3-Methylglutaric Aciduria | Pallor | ORPHA:20 | |
| Sheehan Syndrome | Dry skin, Pallor | ORPHA:91355 | |
| Pituitary Apoplexy | Pallor | ORPHA:95613 | |
| Fanconi Anemia, Complementation Group C | Intrauterine growth retardation, Anemic pallor, Short stature | OMIM:227645 | |
| Hereditary Pheochromocytoma-Paraganglioma | Pallor | ORPHA:29072 | |
| Refractory Anemia With Excess Blasts | Anemic pallor | ORPHA:86839 | |
| Systemic Mastocytosis With Associated Hematologic Neoplasm | Pallor | ORPHA:98849 | |
| Diamond-Blackfan Anemia 1 | Intrauterine growth retardation, Spina bifida occulta, Short stature, Pallor | OMIM:105650 | |
| Fumarase Deficiency | Pallor | OMIM:606812 | |
| Branchiooculofacial Syndrome | Intrauterine growth retardation, Branchial anomaly, Low posterior hairline, Short neck | OMIM:113620 | |
| Alternating Hemiplegia Of Childhood | Pallor | ORPHA:2131 | |
| Fanconi Anemia, Complementation Group E | Anemic pallor, Short stature | OMIM:600901 | |
| Pearson Marrow-Pancreas Syndrome | Erythema, Pallor | OMIM:557000 | |
| Esophageal Atresia | Growth delay, Pallor | ORPHA:1199 | |
| Fanconi Anemia, Complementation Group A | Anemic pallor, Short stature | OMIM:227650 | |
| Witteveen-Kolk Syndrome | Branchial fistula, Intrauterine growth retardation | OMIM:613406 | |
| Degcags Syndrome | Intrauterine growth retardation, Pallor | OMIM:619488 | |
| Histiocytoid Cardiomyopathy | Pallor | ORPHA:137675 | |
| Tsh-Secreting Pituitary Adenoma | Pallor, Delayed puberty | ORPHA:91347 | |
| Idiopathic Hypereosinophilic Syndrome | Pallor | ORPHA:3260 | |
| Diamond-Blackfan Anemia | Growth delay, Short stature, Pallor | ORPHA:124 | |
| Semilobar Holoprosencephaly | Neural tube defect, Hydrocephalus, Abnormal heart morphology | ORPHA:220386 | |
| Alobar Holoprosencephaly | Neural tube defect, Hydrocephalus, Abnormal heart morphology | ORPHA:93925 | |
| Midline Interhemispheric Variant Of Holoprosencephaly | Neural tube defect, Hydrocephalus, Abnormal heart morphology | ORPHA:93926 | |
| Lobar Holoprosencephaly | Neural tube defect, Hydrocephalus, Abnormal heart morphology | ORPHA:93924 | |
| Autosomal Recessive Malignant Osteopetrosis | Growth delay, Pallor | ORPHA:667 | |
| Aprosencephaly And Cerebellar Dysgenesis | Aprosencephaly | OMIM:601374 | |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome | Encephalocele, Exencephaly | ORPHA:2211 | |
| Fanconi Anemia, Complementation Group D2 | Anemic pallor, Short stature | OMIM:227646 | |
| Infection-Related Hemolytic Uremic Syndrome | Pallor | ORPHA:544482 | |
| Multiple Endocrine Neoplasia Type 2 | Pallor | ORPHA:653 | |
| Schinzel-Giedion Syndrome | Delayed eruption of teeth, Short neck, Abnormal heart morphology, Neural tube defect, Umbilical h... | ORPHA:798 | |
| Von Hippel-Lindau Disease | Pallor | ORPHA:892 | |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 | Pallor | OMIM:253280 | |
| Goodpasture Syndrome | Pallor | OMIM:233450 | |
| Congenital Total Pulmonary Venous Return Anomaly | Pallor | ORPHA:99125 |
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 Ankmy2.
There are 1 publication which use IMPC produced mice or data.
| Title | Journal | IMPC Allele | PubMed ID |
|---|---|---|---|
| Ankmy2 Prevents Smoothened-Independent Hyperactivation of the Hedgehog Pathway via Cilia-Regulated Adenylyl Cyclase Signaling. | Developmental cell (July 2020) | Ankmy2tm1a(EUCOMM)Hmgu Ankmy2tm1b(EUCOMM)Hmgu | 32702291 |
All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.
| MGI Allele | Allele Type | Produced |
|---|---|---|
| Ankmy2tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
| Ankmy2tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
| Ankmy2em1(IMPC)Bay | Exon Deletion | Mice |
Get highlights of the most important data releases, news and events, delivered straight to your email inbox
Subscribe to newsletter
