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Gene: Myo1c MGI:106612

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
myosin IC
Synonyms:
C80397,  mm1beta,  myr2,  myosin-Ibeta

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.

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.

Phenotype associated images not available

Human diseases caused by Myo1c 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.

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

The table below shows human diseases predicted to be associated to Myo1c by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia OMIM:205950
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Increased mean corpuscular volume, ... OMIM:618849
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification ORPHA:3319
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume OMIM:620044
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... OMIM:616689
Sickle Cell Anemia
Osteomyelitis, Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic ... ORPHA:232
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia OMIM:206100
Oslam Syndrome
Increased mean corpuscular volume, Radioulnar synostosis, Abnormality of neutrophils ORPHA:2760
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... OMIM:300946
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Refrac... OMIM:231095
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... ORPHA:3203
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Elliptocytosis 3
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis OMIM:617948
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Osteopetrosis, Autosomal Recessive 4
Anemia, Recurrent fractures, Increased bone mineral density, Reticulocytosis, Thrombocytopenia, O... OMIM:611490
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... ORPHA:3202
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Majeed Syndrome
Flexion contracture, Osteomyelitis, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean cor... OMIM:609628
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular... ORPHA:98870
Intermediate Osteopetrosis
Increased susceptibility to fractures, Anemia, Osteomyelitis, Recurrent fractures, Generalized os... ORPHA:210110
Diamond-Blackfan Anemia 6
Tracheomalacia, Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume OMIM:612561
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia OMIM:613839
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:846
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Heinz bodies OMIM:614164
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Osteopetrosis, Splenomegaly OMIM:615085
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... OMIM:616860
Schnitzler Syndrome
Anemia, Increased bone mineral density, Arthritis, Leukocytosis, Splenomegaly ORPHA:37748
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Rickets, Decreased mean corpuscular volume OMIM:611590
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hypochromia, Splenomegaly OMIM:615234
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Erythrocytosis, Familial, 5
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617907
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Isolated Osteopoikilosis
Tarsal sclerosis, Abnormal bone ossification, Increased bone mineral density, Sclerosis of foot b... ORPHA:166119
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Methylcobalamin Deficiency Type Cble
Pancytopenia, Macrocytic anemia, Increased mean corpuscular volume, Neutropenia, Osteoporosis ORPHA:2169
Erythrocytosis, Familial, 4
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:611783
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Increased mean corpuscular volume, Neutropenia, Osteoporosis OMIM:612562
Osteopetrosis, Autosomal Recessive 2
Anemia, Osteomyelitis, Recurrent fractures, Pancytopenia, Decreased osteoclast count, Hepatosplen... OMIM:259710
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis ORPHA:3416
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Flynn-Aird Syndrome
Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste... OMIM:136300
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Beta-Thalassemia
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Reduced bone mine... ORPHA:848
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an... OMIM:127550
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Beta-Thalassemia Intermedia
Increased susceptibility to fractures, Splenomegaly, Increased HbA2 hemoglobin, Erythroid hyperpl... ORPHA:231222
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Osteopetrosis, Autosomal Recessive 1
Anemia, Osteomyelitis, Calvarial osteosclerosis, Osteopetrosis, Increased bone mineral density, P... OMIM:259700
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis OMIM:241520
Osteochondrosis Of The Metatarsal Bone
Arthritis, Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones ORPHA:564003
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Anisopoikilocytosis, Myelofibrosis, Thrombocytopenia, Splenomegaly OMIM:617441
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Arthritis, Joint stiffness, Knee osteoa... ORPHA:566943
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Macrocytic anemia, Reticulocytopenia, Normochromic a... OMIM:615550
Leukocyte Adhesion Deficiency, Type Iii
Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Splenomegaly OMIM:612840
Albers-Schönberg Osteopetrosis
Anemia, Osteomyelitis, Recurrent fractures, Arthritis, Generalized osteosclerosis, Mandibular ost... ORPHA:53
Melorheostosis
Arthritis, Increased bone mineral density, Joint stiffness, Hyperostosis, Ectopic ossification in... ORPHA:2485
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis OMIM:616959
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal mean corpuscular volume, Leukocytosis, Thrombocytopenia, Anemia ... ORPHA:86839
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Dec... ORPHA:300298
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Osteomyelitis, Neutropenia, Anemia, Impa... ORPHA:811
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Gaucher Disease Type 1
Leukopenia, Anemia, Increased bone mineral density, Hypersplenism, Pancytopenia, Osteolysis, Oste... ORPHA:77259
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis OMIM:607634
Osteopetrosis, Autosomal Recessive 3
Anemia, Osteopetrosis, Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Cr... OMIM:259730
Majeed Syndrome
Increased susceptibility to fractures, Flexion contracture, Osteomyelitis, Increased bone mineral... ORPHA:77297
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures OMIM:166740
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia OMIM:612527
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis OMIM:122860
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... ORPHA:124
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Mandibular osteomyelitis, Os... OMIM:166600
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... OMIM:612690
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia OMIM:301083
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Dominant Beta-Thalassemia
Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos... ORPHA:231226
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, Clavicular sclerosis, ... OMIM:144750
Pyropoikilocytosis, Hereditary
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis OMIM:266140
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Camurati-Engelmann Disease
Anemia, Increased bone mineral density, Cortical thickening of long bone diaphyses, Diaphyseal sc... OMIM:131300
Distal Osteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis OMIM:126250
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Beta-Thalassemia Major
Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c... ORPHA:231214
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Leukopenia, Macrocytic anemia, Reticulocytopenia OMIM:612528
Osteopetrosis, Autosomal Recessive 5
Anemia, Increased bone mineral density, Pancytopenia, Hepatosplenomegaly, Decreased osteoclast co... OMIM:259720
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... OMIM:300835
Buschke-Ollendorff Syndrome
Flexion contracture, Recurrent fractures, Arthritis, Osteopoikilosis, Generalized osteosclerosis,... ORPHA:1306
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia, Osteopetrosis ORPHA:3240
Elliptocytosis 2
Elliptocytosis, Hemolytic anemia, Reticulocytosis OMIM:130600
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Abnorma... ORPHA:90650
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Increased bone mineral density, Anemia OMIM:127000
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Castleman Disease
Decreased mean corpuscular volume, Anemia, Thrombocytopenia, Myelofibrosis ORPHA:160
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Gaucher Disease Type 3
Increased susceptibility to fractures, Anemia, Increased bone mineral density, Pancytopenia, Oste... ORPHA:77261
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, Anisocytos... OMIM:618278
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Flexion contracture, Microcytic anemia ORPHA:98791
Diastrophic Dysplasia
Camptodactyly of finger, Increased bone mineral density, Joint stiffness, Joint hyperflexibility ORPHA:628
Paget Disease Of Bone 3
Osteolysis, Patchy osteosclerosis, Fractures of the long bones OMIM:167250
Poems Syndrome
Sclerosis of foot bone, Polycythemia, Thrombocytosis, Sclerosis of hand bone, Sclerosis of skull ... ORPHA:2905
Osteogenesis Imperfecta, Type Xiii
Recurrent fractures, Increased bone mineral density, Joint hypermobility, Limitation of knee mobi... OMIM:614856
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis... ORPHA:85188
Spondyloepiphyseal Dysplasia Tarda
Limited elbow movement, Hip osteoarthritis, Increased bone mineral density, Synovitis, Osteoarthr... ORPHA:93284
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification ORPHA:163649
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Dysosteosclerosis
Increased bone mineral density, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, ... ORPHA:1782
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Joint hypermobility OMIM:617101
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Irregular ossification at anterior rib ends, Pancytopenia, Persis... OMIM:260400
Erdheim-Chester Disease
Increased bone mineral density, Anemia, Osteomyelitis, Osteolysis ORPHA:35687
Pycnodysostosis
Increased susceptibility to fractures, Coronal craniosynostosis, Increased bone mineral density, ... ORPHA:763
Gaucher Disease
Splenomegaly, Anemia, Osteomyelitis, Recurrent fractures, Increased bone mineral density, Pancyto... ORPHA:355
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Anemia, Osteopetrosis, Splenomegaly OMIM:612301
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Splenomegaly OMIM:618541
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Anemia, Multiple joint contractures, Increas... ORPHA:33364
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Increased bone mineral density, Ankylosis, Osteopenia, Osteoporosis OMIM:239000
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Increased bone mineral density, Osteopenia ORPHA:85184
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Osteopetrosis, Facial hyperostosis, Coarse metaphyseal trabecular... ORPHA:2780
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... OMIM:601376
Abcd Syndrome
Polycythemia OMIM:600501
Thymoma
Leukemia, Rheumatoid arthritis, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell a... ORPHA:99867
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Desmosterolosis
Increased bone mineral density, Osteopetrosis, Splenomegaly ORPHA:35107
Dysosteosclerosis
Increased susceptibility to fractures, Sclerotic scapulae, Clavicular sclerosis, Osteopenia, Scle... OMIM:224300
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
12Q14 Microdeletion Syndrome
Abnormality of the spleen, Osteopoikilosis ORPHA:94063
Eisenmenger Syndrome
Hypochromic microcytic anemia, Increased mean corpuscular volume, Iron deficiency anemia ORPHA:97214
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Werner Syndrome
Increased bone mineral density, Joint stiffness, Osteoporosis ORPHA:902
Autosomal Recessive Hypophosphatemic Rickets
Osteomalacia, Abnormal trabecular bone morphology, Increased bone mineral density, Rickets of the... ORPHA:289176
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification OMIM:618476
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis ORPHA:94089
Lead Poisoning
Imbalanced hemoglobin synthesis, Cranial hyperostosis, Abnormal T cell morphology, Anemia ORPHA:330015
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Joint stiffness, Flexion contracture, Abnormal hemoglobin, Anemia ORPHA:847
Autosomal Recessive Malignant Osteopetrosis
Anemia, Recurrent fractures, Osteopetrosis, Craniosynostosis, Splenomegaly, Reduced bone mineral ... ORPHA:667
Osteopetrosis With Renal Tubular Acidosis
Leukopenia, Anemia, Recurrent fractures, Elliptocytosis, Pancytopenia, Thrombocytopenia, Osteopet... ORPHA:2785
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Elbow ankylosis, Abnormal cortical bone morphology, Limitation of... ORPHA:2658
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Increased bone mineral density, Synostosis of carpal bones, Carpal synos... ORPHA:90652
Schwartz-Jampel Syndrome
Wrist flexion contracture, Hip contracture, Increased bone mineral density, Joint stiffness, Shou... ORPHA:800
X-Linked Hypophosphatemia
Vertebral hyperostosis, Enthesitis, Arthritis, Limitation of joint mobility, Generalized osteoscl... ORPHA:89936
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Raine Syndrome
Increased bone mineral density, Subperiosteal bone formation, Arthrogryposis multiplex congenita OMIM:259775
Pseudohypoparathyroidism Type 1A
Hyperostosis frontalis interna, Increased bone mineral density, Ectopic ossification, Reduced bon... ORPHA:79443
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:301040
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Ectopic ossification ORPHA:79444
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Desmosterolosis
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand OMIM:602398
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Atypical Werner Syndrome
Osteolytic defects of the phalanges of the hand, Increased bone mineral density, Limitation of jo... ORPHA:79474
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Increased bone mineral density, Increased susceptibility to frac... OMIM:119600
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Williams Syndrome
Increased bone mineral density, Radioulnar synostosis, Joint laxity, Synostosis of joints, Joint ... ORPHA:904
Primary Hyperoxaluria
Recurrent fractures, Generalized osteosclerosis ORPHA:416
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... OMIM:269500
Schinzel-Giedion Midface Retraction Syndrome
Thickened cortex of long bones, Sclerosis of skull base, Increased density of long bones, Splenop... OMIM:269150

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 Myo1c

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 Myo1c.

No publications found that use IMPC mice or data for Myo1c.

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MGI Allele Allele Type Produced
Myo1ctm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Myo1ctm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Myo1ctm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) ES Cells

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