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Gene: Ankrd13a MGI:1915670

Gene Summary

Name:

ankyrin repeat domain 13a

Synonyms:

1100001D10Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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	Allele	Zyg	Life Stage	P Value
decreased grip strength	Ankrd13a^{Gt(RRH308)Byg}	HOM	Early adult	7.50×10^-05
thrombocytosis	Ankrd13a^{Gt(RRH308)Byg}	HOM	Early adult	1.21×10^-06
hyperactivity	Ankrd13a^{Gt(RRH308)Byg}	HOM	Early adult	5.76×10^-05
decreased circulating bilirubin level	Ankrd13a^{Gt(RRH308)Byg}	HOM	Early adult	4.04×10^-05
vertebral fusion	Ankrd13a^{Gt(RRH308)Byg}	HOM	Early adult	1.94×10^-06
increased hemoglobin content	Ankrd13a^{Gt(RRH308)Byg}	HOM	Early adult	6.45×10^-05

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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.

Legacy Phenotype Associated Images

Ankrd13a^{Gt(RRH308)Byg}
WT, Male, WTSI

Ankrd13a^{Gt(RRH308)Byg}
WT, Female, WTSI

Ankrd13a^{Gt(RRH308)Byg}
forelimb, WT, Female, WTSI

View all 168 images

Ankrd13a^{Gt(RRH308)Byg}
tail skin, HOM, Female, WTSI

Human diseases caused by Ankrd13a 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.

Human diseases associated with Ankrd13a (0 diseases)
Human diseases predicted to be associated with Ankrd13a (224 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ankrd13a by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Congenital Amegakaryocytic Thrombocytopenia	Abnormal form of the vertebral bodies, Abnormal hemoglobin, Decreased skull ossification, Short n...	ORPHA:3319
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee flexion cont...	OMIM:604416
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A...	ORPHA:86841
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Juvenile Arthritis	Leukocytosis, Thrombocytosis	OMIM:618795
Intellectual Developmental Disorder, Autosomal Dominant 33	Scoliosis, Hyperactivity, Delayed skeletal maturation	OMIM:616311
Microcephaly With Cervical Spine Fusion Anomalies	Spinal instability, Vertebral fusion	OMIM:251250
Schizophrenia 15	Hyperactivity	OMIM:613950
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae...	ORPHA:2064
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Immunodeficiency 27A	Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Salmonella osteomyelitis, Anorexi...	OMIM:209950
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre...	OMIM:603902
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr...	OMIM:610017
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio...	OMIM:277300
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Polyarticular arthritis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 37	Bruxism, Aggressive behavior, Hyperactivity	OMIM:615493
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Bruxism, Aggressive behavior, Hyperactivity	ORPHA:356996
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Lumbar hyperlordosis, Butterfly vertebrae, Aggressive behavior, Attentio...	ORPHA:313892
Primary Myelofibrosis	Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg...	ORPHA:824
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Scoliosis, Flexio...	OMIM:618469
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho...	ORPHA:3318
Klippel-Feil Syndrome 3, Autosomal Dominant	Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis	OMIM:613702
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv...	ORPHA:100973
Spondylocostal Dysostosis 5	Butterfly vertebrae, Low back pain, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis	OMIM:122600
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Popliteal pterygium, Arthrogryposis multiplex congenita, Cervical spinal canal stenosis, Carpal s...	OMIM:178110
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae	ORPHA:1436
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Vertebral segmentation defect	OMIM:618845
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Elbow contracture, Dysphagia, Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoli...	OMIM:606612
Brachydactyly, Type B1	Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Thoracolumbar ...	OMIM:113000
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Heme Oxygenase 1 Deficiency	Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytosis	OMIM:614034
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Immunodeficiency 92	Osteomyelitis, Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switche...	OMIM:619652
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu...	ORPHA:66637
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Short neck, Abnormal sacrum...	ORPHA:2345
Autoerythrocyte Sensitization Syndrome	Self-injurious behavior, Impaired platelet adhesion, Abnormal erythrocyte morphology, Obsessive-c...	ORPHA:324636
Keratoconus Posticus Circumscriptus	Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion	OMIM:244600
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Aggressive behavior, Hyperactivity	OMIM:619031
Christian Syndrome	Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Thoracic hemivertebrae	OMIM:309620
Intellectual Developmental Disorder, X-Linked 111	Phonic tics, Kyphoscoliosis, Aggressive behavior, Hyperactivity, Compulsive behaviors	OMIM:301107
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na...	ORPHA:93315
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Klippel-Feil Syndrome 2, Autosomal Recessive	Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae	OMIM:214300
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Joint stiffness, Thrombocytosis, Anemia	OMIM:615934
Lamb-Shaffer Syndrome	Abnormal temper tantrums, Thoracic kyphosis, Motor stereotypy, Hyperactivity, Scoliosis, Fused ce...	ORPHA:530983
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:301008
Kbg Syndrome	Persistent open anterior fontanelle, Delayed skeletal maturation, Short neck, Vertebral fusion, S...	ORPHA:2332
Aarskog-Scott Syndrome	Genu recurvatum, Camptodactyly of finger, Joint hypermobility, Abnormality of the cervical spine,...	ORPHA:915
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Short neck, Hyperlordosis, Kyphosis, Fused cervical vertebrae	ORPHA:2522
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Short neck,...	OMIM:613686
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Anemia, Iron deficiency anemia, Thrombocytosis	OMIM:226300
Diamond-Blackfan Anemia 1	Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Increased mean corpuscular volume, Per...	OMIM:105650
Kniest Dysplasia	Delayed epiphyseal ossification, Platyspondyly, Hypoplasia of the odontoid process, Vertebral wed...	ORPHA:485
Beta-Ketothiolase Deficiency	Anorexia, Leukocytosis, Oral aversion, Thrombocytosis, Agitation	ORPHA:134
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Elbow dislocation, Hypoplastic vertebral bodies, Hemiverte...	ORPHA:2916
Otopalatodigital Syndrome Type 1	Synostosis of carpal bones, Limitation of joint mobility, Elbow dislocation, Increased bone miner...	ORPHA:90650
Verheij Syndrome	Joint hypermobility, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis, Hip dislocation	OMIM:615583
Beta-Thalassemia	Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Reduced bone mine...	ORPHA:848
Poems Syndrome	Polycythemia, Sclerosis of foot bone, Sclerosis of hand bone, Sclerotic vertebral endplates, Scle...	ORPHA:2905
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Increased susceptibility to fractures, Multiple pterygia, Vertebral fusion, Ab...	OMIM:312150
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoliosis, Kyphosis	OMIM:607155
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Impaired lympho...	OMIM:243150
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Ring Chromosome 21 Syndrome	Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae	ORPHA:1445
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Celiac Disease, Susceptibility To, 1	Rickets, Macrocytic anemia, Iron deficiency anemia, Thrombocytosis, Osteoporosis	OMIM:212750
Alpha-Thalassemia	Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen...	ORPHA:846
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Increased susceptibility to fractures, Multiple pterygia, Vertebral fusion, Ab...	OMIM:253290
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:616649
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Bone Marrow Failure Syndrome 6	Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope...	OMIM:618849
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:612653
3-Hydroxy-3-Methylglutaric Aciduria	Anorexia, Leukopenia, Leukocytosis, Thrombocytosis, Anemia	ORPHA:20
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocytosis, Splenomegaly, Arthritis,...	OMIM:615688
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic an...	OMIM:235700
Elliptocytosis 2	Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Caudal Regression Syndrome	Aplasia/Hypoplasia of the sacrum, Joint stiffness, Hypoplastic vertebral bodies, Scoliosis, Impul...	ORPHA:3027
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Abnormal vertebral segmentation and fusion	OMIM:118100
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Short neck, Thoracolumbar scoliosis, Flexi...	OMIM:616549
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Iron deficiency anemia...	OMIM:301074
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Flexion contracture, Kyphosis, Thrombocytosis	OMIM:212065
Alkaptonuria	Limited hip movement, Intervertebral disk degeneration, Arthropathy, Low back pain, Limited shoul...	OMIM:203500
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis	ORPHA:729
Frontometaphyseal Dysplasia 1	Ankle flexion contracture, Partial fusion of tarsals, Interphalangeal joint contracture of finger...	OMIM:305620
Idiopathic Hypereosinophilic Syndrome	Ankle swelling, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Joint swelling, E...	ORPHA:3260
Developmental Delay, Language Impairment, And Ocular Abnormalities	Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Contract...	OMIM:620141
Koolen-De Vries Syndrome	Hip dislocation, Overfriendliness, Vertebral segmentation defect, Joint hypermobility, Vertebral ...	ORPHA:96169
Spondylocarpotarsal Synostosis Syndrome	Block vertebrae, Hypoplasia of the odontoid process, Delayed skeletal maturation, Carpal synostos...	OMIM:272460
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Koolen-De Vries Syndrome	Kyphosis, Spondylolisthesis, Joint hypermobility, Impulsivity, Hyperactivity, Vertebral fusion, S...	OMIM:610443
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Familial Thrombocytosis	Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis	ORPHA:71493
Brucellosis	Hip osteoarthritis, Septic arthritis, Sacroiliac arthritis, Osteomyelitis, Hypersplenism, Leukope...	ORPHA:1304
Intellectual Developmental Disorder, Autosomal Dominant 52	Lumbar hyperlordosis, Obsessive-compulsive trait, Lumbar scoliosis, Cervical C2/C3 vertebral fusi...	OMIM:617796
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Self-injurious behavior, Persistence of hemoglobin F, Recurrent hand flapping, Anterior concavity...	OMIM:617101
Wildervanck Syndrome	Short neck, Fused cervical vertebrae	ORPHA:3456
Spherocytosis, Type 1	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:182900
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Knee dislocation, Shoulder dislocation, Generalized joint hypermobility, Cervical C2/...	OMIM:618000
Cogan Syndrome	Anemia, Leukocytosis, Thrombocytosis	ORPHA:1467
Neuroleptic Malignant Syndrome	Leukocytosis, Thrombocytopenia, Thrombocytosis, Dysphagia, Agitation	ORPHA:94093
Larsen Syndrome	Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Elbow dislocation, Tracheomalac...	OMIM:150250
Lateral Meningocele Syndrome	Sclerosis of skull base, Biconcave vertebral bodies, Joint hypermobility, Wormian bones, Short ne...	OMIM:130720
Interstitial Lung And Liver Disease	Anemia, Thrombocytosis	OMIM:615486
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Progressive cervical ve...	OMIM:135100
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Splenomegaly, Joint swelling, Neutrophilia, Osteolysis, Fused cervical...	OMIM:612852
Trichohepatoenteric Syndrome 1	Avascular necrosis of the capital femoral epiphysis, Thrombocytosis, Splenomegaly, Increased mean...	OMIM:222470
Thrombocytopenia-Absent Radius Syndrome	Hip dislocation, Aplasia/Hypoplasia of the patella, Thrombocytopenia, Patellar dislocation, Scoli...	ORPHA:3320
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Dysplastic patella, Patellar aplasia, Short neck, Thoracolumbar scoliosis,...	OMIM:265000
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Delayed skeletal maturation, Increased HbA2 hemoglobin, Increased bone ...	OMIM:616943
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Self-mutilation, Joint hypermobility, Attention deficit hyperactivity disorder, Beaking of verteb...	OMIM:213980
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Block vertebrae, Supernumerary vertebrae, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis	OMIM:271520
Ziegler-Huang Syndrome	Neutropenia, Delayed skeletal maturation, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia, Kyphoscoliosis, Aggressive behavior, Motor stereotypy, Hyperactivity, Scoliosis	ORPHA:391307
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr...	ORPHA:231222
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Leukocytosis, Thrombocytosis	OMIM:618213
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Limitation of joint mobility, Interphalangeal joint contracture of finger, Joint...	OMIM:151200
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Cervical C2/C3 vertebral fusion, Camptodactyly, Joint hypermobility	OMIM:617333
Stapes Ankylosis With Broad Thumbs And Toes	Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae	OMIM:184460
Syndromic Diarrhea	Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Increased mean platelet volume	ORPHA:84064
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Spina bifida occulta, Attention deficit hyperactivity disorder, Butterfly vertebrae, Fused cervic...	OMIM:619227
Mosaic Trisomy 20	Spinal canal stenosis, Vertebral segmentation defect, Limited pronation/supination of forearm, Ve...	ORPHA:1724
Mucopolysaccharidosis, Type Iiic	Joint stiffness, Splenomegaly, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Beaking of vertebra...	OMIM:252930
Kbg Syndrome	Delayed skeletal maturation, Attention deficit hyperactivity disorder, Short neck, Vertebral fusi...	OMIM:148050
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, Short neck, Flexion contracture, HbH hemoglobin	ORPHA:98791
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Tracheomalacia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Robinow Syndrome, Autosomal Recessive 1	Hypoplastic sacrum, Delayed skeletal maturation, Delayed cranial suture closure, Thoracic hemiver...	OMIM:268310
Fanconi Anemia, Complementation Group I	Short neck, Neutropenia, Fused cervical vertebrae	OMIM:609053
Gorlin Syndrome	Abnormal vertebral morphology, Vertebral wedging, Hemivertebrae, Vertebral fusion, Scoliosis	ORPHA:377
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Increased mean corpuscular volume, Persistence of he...	OMIM:617052
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Camptodactyly of finger, Carpal synostosis, Increa...	ORPHA:90652
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Cervical C2/C3 vertebral fusion	ORPHA:370010
Basal Cell Nevus Syndrome 1	Vertebral wedging, Kyphoscoliosis, Hemivertebrae, Irregular ossification of hand bones, Vertebral...	OMIM:109400
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Accelerated skeletal maturation, Osteoporosis, Scoliosis, Kyphosis	OMIM:617190
Shwachman-Diamond Syndrome 1	Delayed skeletal maturation, Persistence of hemoglobin F, Pancytopenia, Irregular ossification at...	OMIM:260400
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Arnold-Chiari Malformation Type I	Stiff neck, Cervical C2/C3 vertebral fusion, Anteriorly placed odontoid process, Scoliosis, Dysph...	ORPHA:268882
Frontometaphyseal Dysplasia	Joint contracture of the hand, Interphalangeal joint contracture of finger, Camptodactyly of fing...	ORPHA:1826
Kawasaki Disease	Leukocytosis, Arthritis, Thrombocytosis	ORPHA:2331
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231226
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231214
Doors Syndrome	Lumbar scoliosis, Sagittal craniosynostosis, Hemivertebrae, Thrombocytosis, Spina bifida occulta	ORPHA:79500
Microphthalmia, Syndromic 3	Vertebral fusion, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia	OMIM:206900
Leukocyte Adhesion Deficiency	Coronal craniosynostosis, Abnormality of neutrophil physiology, Polycythemia, Impaired platelet a...	ORPHA:2968
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypermobility of interphalangeal joints, Thoracic hemivertebrae, Thoracic kyphosis, Generalized j...	ORPHA:508498
Myhre Syndrome	Platyspondyly, Limitation of joint mobility, Joint stiffness, Enlarged vertebral pedicles, Short ...	OMIM:139210
Simpson-Golabi-Behmel Syndrome	Congenital hip dislocation, Polysplenia, Camptodactyly of finger, Splenomegaly, Vertebral segment...	ORPHA:373
Sifrim-Hitz-Weiss Syndrome	Wormian bones, Flat acetabular roof, Fused cervical vertebrae	OMIM:617159
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Kyphoscoliosis, Motor stereotypy, Hypochromic microcytic anemia, Hemivertebrae, R...	OMIM:301040
Lead Poisoning	Imbalanced hemoglobin synthesis, Delayed skeletal maturation, Anorexia, Attention deficit hyperac...	ORPHA:330015
Duane Retraction Syndrome	Abnormal form of the vertebral bodies, Short neck, Camptodactyly, Spina bifida occulta, Abnormal ...	ORPHA:233
Atelosteogenesis, Type I	Elbow dislocation, Knee dislocation, Thoracic platyspondyly, Short neck, Vertebral hypoplasia, Co...	OMIM:108720
Wolf-Hirschhorn Syndrome	Accessory spleen, Kyphosis, Abnormal form of the vertebral bodies, Delayed skeletal maturation, R...	OMIM:194190
Thrombocytopenia-Absent Radius Syndrome	Carpal synostosis, Hepatosplenomegaly, Leukocytosis, Patellar aplasia, Carpal bone hypoplasia, Eo...	OMIM:274000
Faciodigitogenital Syndrome, Autosomal Recessive	Camptodactyly, Vertebral fusion, Hyperextensible hand joints	OMIM:227330
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Self-injurious behavior, Joint stiffness, Abnormal hemoglobin, Anemia, Flexion contracture	ORPHA:847
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Coronal craniosynostosis, Synostosi...	OMIM:101200
Acro-Renal-Ocular Syndrome	Vertebral fusion, Vertebral segmentation defect	ORPHA:959
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Leukemia, Pure red cell a...	ORPHA:99867
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Thakker-Donnai Syndrome	Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae	ORPHA:1780
Aicardi Syndrome	Block vertebrae, Scoliosis, Butterfly vertebrae, Hemivertebrae	OMIM:304050
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Duane-Radial Ray Syndrome	Spina bifida occulta, Shoulder dislocation, Scoliosis, Fused cervical vertebrae	OMIM:607323
Aicardi Syndrome	Block vertebrae, Scoliosis, Butterfly vertebrae	ORPHA:50
Chops Syndrome	Cervical C2/C3 vertebral fusion, Tracheomalacia, Splenomegaly	OMIM:616368
Apert Syndrome	Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect	ORPHA:87
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Elbow contracture, Hip contracture, Camptodactyly, Dislocated radial ...	OMIM:617137
Robinow Syndrome	Hemivertebrae, Scoliosis, Kyphoscoliosis, Fused thoracic vertebrae	ORPHA:97360
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Polysplenia, Asplenia	OMIM:306955
Alkaptonuria	Joint dislocation, Joint stiffness, Reduced bone mineral density, Increased susceptibility to fra...	ORPHA:56
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Chromosome 16P13.3 Duplication Syndrome	Cervical C5/C6 vertebrae fusion, Attention deficit hyperactivity disorder, Short neck, Camptodact...	OMIM:613458
Cardiospondylocarpofacial Syndrome	Delayed skeletal maturation, Fusion of middle ear ossicles, Carpal synostosis, Herniation of inte...	OMIM:157800
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coronal craniosynostosis, Contracture of the distal interphalangeal joint of the fingers, B lymph...	ORPHA:83617
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Tracheomalacia, Cervical C2/C3 vertebral fusion, Wormian bones, Hi...	ORPHA:444077
Histidinemia	Hyperactivity	ORPHA:2157
Generalized Arterial Calcification Of Infancy	Osteomalacia, Abnormal hip joint morphology, Hypophosphatemic rickets, Abnormal calcification of ...	ORPHA:51608
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion	OMIM:211380
Craniofacial Microsomia 1	Block vertebrae, Genu valgum, Hemivertebrae, Scoliosis, Vertebral hypoplasia	OMIM:164210
Holt-Oram Syndrome	Elbow dislocation, Limited elbow extension, Thoracic scoliosis, Cervical C2/C3 vertebral fusion, ...	OMIM:142900

Histopathology

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 Ankrd13a

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 Ankrd13a.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ankrd13a^{Gt(RRH308)Byg}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Ankrd13a^{Gt(RRH308)Byg}	PMC6459510

Order Mouse and ES Cells

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
Ankrd13a^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ankrd13a^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Ankrd13a^{tm356928(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ankrd13a^{tm37273(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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