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 embryo development | Ankmy2em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
| prenatal lethality prior to heart atrial septation | Ankmy2em1(IMPC)Bay | HOM | E15.5 | 0.00 | ||
| abnormal forebrain development | Ankmy2em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
| abnormal heart morphology | Ankmy2em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
| abnormal neural tube closure | Ankmy2em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
| abnormal embryo size | 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 neural tube morphology | Ankmy2em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
| abnormal placenta development | Ankmy2em1(IMPC)Bay | HET | E12.5 | 0.00 | ||
| abnormal placenta size | Ankmy2em1(IMPC)Bay | HET | E12.5 | 0.00 | ||
| preweaning lethality, complete penetrance | Ankmy2em1(IMPC)Bay | HOM | Early adult | 0.00 | ||
| embryonic growth retardation | Ankmy2em1(IMPC)Bay | HET | E12.5 | 0.00 | ||
| abnormal embryo turning | Ankmy2em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
| abnormal embryo size | Ankmy2em1(IMPC)Bay | HET | E12.5 | 0.00 | ||
| abnormal vitelline vasculature morphology | Ankmy2em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
| pallor | Ankmy2em1(IMPC)Bay | HET | E12.5 | 0.00 | ||
| abnormal somite shape | Ankmy2em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
| abnormal pharyngeal arch morphology | Ankmy2em1(IMPC)Bay | HOM | E9.5 | 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 | Spinal dysraphism, Spina bifida | 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, Facial erythema, Pallor | OMIM:603165 | |
| Benign Paroxysmal Torticollis Of Infancy | Pallor | ORPHA:71518 | |
| Isolated Anencephaly/Exencephaly | Anencephaly | ORPHA:1048 | |
| Acute Peripheral Arterial Occlusion | Pallor | ORPHA:90064 | |
| Craniofacial Microsomia 2 | Dermal sinus tract | OMIM:620444 | |
| X-Linked Mandibulofacial Dysostosis | Webbed neck, Pulmonic stenosis, Branchial anomaly, Abnormal mitral valve morphology | ORPHA:1131 | |
| Branchiogenic-Deafness Syndrome | Branchial fistula, Branchial cyst | OMIM:609166 | |
| Verheij Syndrome | Branchial cyst, Intrauterine growth retardation, Ventricular septal defect, Truncus arteriosus, S... | OMIM:615583 | |
| Leber Congenital Amaurosis 14 | Pallor | OMIM:613341 | |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome | Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect | ORPHA:2476 | |
| Fryns Microphthalmia Syndrome | Neural tube defect | OMIM:600776 | |
| Acute Myelomonocytic Leukemia | Pallor | ORPHA:517 | |
| Branchiootic Syndrome 3 | Branchial cyst | OMIM:608389 | |
| Optic Atrophy 1 | Pallor | OMIM:165500 | |
| Optic Atrophy 7 With Or Without Auditory Neuropathy | Pallor | OMIM:612989 | |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 | Growth delay, Pallor | OMIM:613561 | |
| Neural Tube Defects, Susceptibility To | Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus | OMIM:182940 | |
| Hemoglobin D Disease | Pallor | ORPHA:90039 | |
| X-Linked Sideroblastic Anemia | Pallor | ORPHA:75563 | |
| Anemia, Congenital Dyserythropoietic, Type Ib | Short stature, Growth delay, 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 | Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... | ORPHA:1908 | |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome | Branchial cyst | ORPHA:435938 | |
| Branchiogenic Deafness Syndrome | Branchial fistula, Branchial cyst | ORPHA:50815 | |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome | Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth retardation, Increa... | ORPHA:453499 | |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome | Pallor | ORPHA:276608 | |
| Congenital Heart Block | Intrauterine growth retardation, Pallor | ORPHA:60041 | |
| Holoprosencephaly | Spinal dysraphism, Tetralogy of Fallot, Branchial anomaly, Encephalocele, Abnormal pulmonary valv... | ORPHA:2162 | |
| Spontaneous Periodic Hypothermia | Pallor | ORPHA:29822 | |
| Blepharocheilodontic Syndrome 1 | Neural tube defect | OMIM:119580 | |
| Evans Syndrome | Pallor, Petechiae | ORPHA:1959 | |
| Retinitis Pigmentosa 51 | Pallor | OMIM:613464 | |
| Irida Syndrome | Pallor | ORPHA:209981 | |
| Isolated Posterior Meningocele | Limitation of neck motion, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocel... | ORPHA:268810 | |
| Aprosencephaly Syndrome | Aprosencephaly, Anencephaly | OMIM:207770 | |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia | Short stature, Pallor | OMIM:611590 | |
| Craniorachischisis | Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly | ORPHA:63260 | |
| 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 | |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency | Pallor | ORPHA:276575 | |
| Distal 22Q11.2 Microduplication Syndrome | Webbed neck, Branchial fistula, Ventricular septal defect, Low posterior hairline, Tricuspid valv... | ORPHA:261337 | |
| Bor Syndrome | Branchial cyst | ORPHA:107 | |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency | Pallor | ORPHA:276580 | |
| Alg3-Cdg | Cardiomyopathy, Neural tube defect | ORPHA:79321 | |
| Hyperinsulinism Due To Hnf1A Deficiency | Pallor | ORPHA:324575 | |
| Beta-Thalassemia | Pallor, Skin ulcer | ORPHA:848 | |
| Branchiootorenal Syndrome 1 | Branchial fistula, Branchial cyst | OMIM:113650 | |
| Joubert Syndrome 15 | Exencephaly | OMIM:614464 | |
| Leishmaniasis | Pallor, Skin ulcer | ORPHA:507 | |
| Fanconi Anemia, Complementation Group I | Short stature, Intrauterine growth retardation, Pallor | OMIM:609053 | |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 | Growth delay, Pallor | OMIM:615234 | |
| Primary Myelofibrosis | Purpura, Petechiae, Pallor, Ecchymosis | ORPHA:824 | |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 | Delayed puberty, Pallor, Growth delay | OMIM:600462 | |
| Myopathic Ehlers-Danlos Syndrome | Pallor | ORPHA:536516 | |
| Hb Bart'S Hydrops Fetalis | Pallor | ORPHA:163596 | |
| Dravet Syndrome | Pallor | ORPHA:33069 | |
| Myelofibrosis | Purpura, Pallor | OMIM:254450 | |
| Anemia, Sideroblastic, 1 | Anemic pallor | OMIM:300751 | |
| Kcnq2-Related Epileptic Encephalopathy | Facial erythema, Pallor | 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 | Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... | ORPHA:453504 | |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion | Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... | ORPHA:352665 | |
| Oligomeganephronia | Secundum atrial septal defect, Branchial cyst | ORPHA:2260 | |
| Distal 22Q11.2 Microdeletion Syndrome | Branchial fistula, Intrauterine growth retardation, Ventricular septal defect, Truncus arteriosus... | ORPHA:261330 | |
| Non-Functioning Paraganglioma | Pallor | ORPHA:94080 | |
| Cold Agglutinin Disease | Pallor | ORPHA:56425 | |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency | Pallor | OMIM:613839 | |
| Elliptocytosis 1 | Pallor | OMIM:611804 | |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 | Aortic valve stenosis, Hypoplastic left heart, Spinal dysraphism, Mitral stenosis, Atrial septal ... | 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 | |
| Cone-Rod Dystrophy 8 | Pallor | OMIM:605549 | |
| Treacher-Collins Syndrome | Patent ductus arteriosus, Branchial fistula, Encephalocele | ORPHA:861 | |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia | Short stature, Intrauterine growth retardation, Pallor | OMIM:301310 | |
| Tay-Sachs Disease | Pallor | OMIM:272800 | |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency | Pallor | ORPHA:13 | |
| Myopathy, Mitochondrial, And Ataxia | Short stature, Growth delay, Pallor | OMIM:617675 | |
| Idiopathic Pulmonary Hemosiderosis | Pallor | ORPHA:99931 | |
| Rheumatic Fever | Erythema, Pallor | ORPHA:3099 | |
| American Trypanosomiasis | Pallor | ORPHA:3386 | |
| 8Q24.3 Microdeletion Syndrome | Branchial cyst, Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth ret... | ORPHA:508488 | |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency | Pallor | ORPHA:263455 | |
| Autoimmune Hemolytic Anemia, Warm Type | Pallor | ORPHA:90033 | |
| Hereditary Spherocytosis | Growth delay, Skin ulcer, Pallor | ORPHA:822 | |
| Iniencephaly | Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Cystic hygroma, ... | ORPHA:63259 | |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts | Growth delay, Pallor | ORPHA:300298 | |
| Senior-Loken Syndrome 8 | Pallor | OMIM:616307 | |
| Plummer-Vinson Syndrome | Pallor | ORPHA:54028 | |
| Childhood Absence Epilepsy | Pallor | ORPHA:64280 | |
| Dominant Beta-Thalassemia | Delayed puberty, Skin ulcer, Pallor, Growth delay | ORPHA:231226 | |
| Letterer-Siwe Disease | Pallor | OMIM:246400 | |
| Sacral Defect With Anterior Meningocele | Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract | OMIM:600145 | |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome | Natal tooth, Branchial cyst, Intrauterine growth retardation, Patent foramen ovale, Atrial septal... | OMIM:620186 | |
| Hereditary Folate Malabsorption | Pallor | ORPHA:90045 | |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli | Anemic pallor, Growth delay | ORPHA:329971 | |
| Beta-Thalassemia Intermedia | Pallor, Skin ulcer | ORPHA:231222 | |
| Sepsis In Premature Infants | Purpura, Petechiae, Pallor | ORPHA:90051 | |
| Fructose-1,6-Bisphosphatase Deficiency | Pallor | ORPHA:348 | |
| Beta-Thalassemia Major | Delayed puberty, Skin ulcer, Pallor, Growth delay | ORPHA:231214 | |
| Sporadic Pheochromocytoma/Secreting Paraganglioma | Pallor | ORPHA:276621 | |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema | Pallor | OMIM:194380 | |
| Beta-Ketothiolase Deficiency | Pallor | ORPHA:134 | |
| Waldenström Macroglobulinemia | Purpura, Pallor | ORPHA:33226 | |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency | Pallor | OMIM:246450 | |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency | Pallor | ORPHA:331206 | |
| Imerslund-Gräsbeck Syndrome | Pallor | ORPHA:35858 | |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency | Pallor | OMIM:300908 | |
| Craniofacial Microsomia 1 | Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly, Ventricular septal defect, Hydro... | OMIM:164210 | |
| Aregenerative Anemia | Pallor | ORPHA:101096 | |
| Adenohypophysitis | Pallor | ORPHA:95512 | |
| Non-Functioning Pituitary Adenoma | Pallor | ORPHA:91349 | |
| Prolactinoma | Delayed puberty, Pallor | ORPHA:2965 | |
| Panhypophysitis | Pallor | ORPHA:95513 | |
| 3-Hydroxy-3-Methylglutaric Aciduria | Pallor | ORPHA:20 | |
| Incontinentia Pigmenti | Short stature, Erythema, Pallor | OMIM:308300 | |
| Sheehan Syndrome | Dry skin, Pallor | ORPHA:91355 | |
| Refractory Anemia With Excess Blasts | Anemic pallor | ORPHA:86839 | |
| Fanconi Anemia, Complementation Group C | Short stature, Intrauterine growth retardation, Anemic pallor | OMIM:227645 | |
| Hereditary Pheochromocytoma-Paraganglioma | Pallor | ORPHA:29072 | |
| Pituitary Apoplexy | Pallor | ORPHA:95613 | |
| Fumarase Deficiency | Pallor | OMIM:606812 | |
| Systemic Mastocytosis With Associated Hematologic Neoplasm | Pallor | ORPHA:98849 | |
| Diamond-Blackfan Anemia 1 | Short stature, Spina bifida occulta, Intrauterine growth retardation, Pallor | OMIM:105650 | |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type | Pallor | OMIM:277400 | |
| Alternating Hemiplegia Of Childhood | Pallor | ORPHA:2131 | |
| Branchiooculofacial Syndrome | Low posterior hairline, Intrauterine growth retardation, Branchial anomaly, Short neck | OMIM:113620 | |
| Fanconi Anemia, Complementation Group E | Short stature, Anemic pallor | OMIM:600901 | |
| Pearson Marrow-Pancreas Syndrome | Erythema, Pallor | OMIM:557000 | |
| Esophageal Atresia | Growth delay, Pallor | ORPHA:1199 | |
| Fanconi Anemia, Complementation Group A | Short stature, Anemic pallor | OMIM:227650 | |
| Witteveen-Kolk Syndrome | Intrauterine growth retardation, Branchial fistula | OMIM:613406 | |
| Neuroblastoma | Anemic pallor | ORPHA:635 | |
| Degcags Syndrome | Intrauterine growth retardation, Pallor | OMIM:619488 | |
| Histiocytoid Cardiomyopathy | Pallor | ORPHA:137675 | |
| Idiopathic Hypereosinophilic Syndrome | Pallor | ORPHA:3260 | |
| Diamond-Blackfan Anemia | Short stature, Growth delay, Pallor | ORPHA:124 | |
| Tsh-Secreting Pituitary Adenoma | Delayed puberty, Pallor | ORPHA:91347 | |
| Semilobar Holoprosencephaly | Abnormal heart morphology, Hydrocephalus, Neural tube defect | ORPHA:220386 | |
| Alobar Holoprosencephaly | Abnormal heart morphology, Hydrocephalus, Neural tube defect | ORPHA:93925 | |
| Midline Interhemispheric Variant Of Holoprosencephaly | Abnormal heart morphology, Hydrocephalus, Neural tube defect | ORPHA:93926 | |
| Lobar Holoprosencephaly | Abnormal heart morphology, Hydrocephalus, Neural tube defect | ORPHA:93924 | |
| Aprosencephaly And Cerebellar Dysgenesis | Aprosencephaly | OMIM:601374 | |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome | Encephalocele, Exencephaly | ORPHA:2211 | |
| Autosomal Recessive Malignant Osteopetrosis | Growth delay, Pallor | ORPHA:667 | |
| Fanconi Anemia, Complementation Group D2 | Short stature, Anemic pallor | 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, Umbilical hernia, Abnormal heart morphology, Short neck, Neural tube d... | 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 2 publications which use IMPC produced mice or data.
| Title | Journal | IMPC Allele | PubMed ID |
|---|---|---|---|
| Context-dependent ciliary regulation of hedgehog pathway repression in tissue morphogenesis. | PLoS genetics (November 2023) | Ankmy2tm1b(EUCOMM)Hmgu | PMC10662714 |
| 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 |
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