banner
Genes Phenotypes Help, News, Blog

Gene: Kmt2c MGI:2444959

Log in to follow

Gene Summary

Name:
lysine (K)-specific methyltransferase 2C
Synonyms:
HALR,  E330008K23Rik,  Mll3

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
increased bone mineral content Kmt2cem2(IMPC)Marc HET Early adult 1.90×10-06
preweaning lethality, complete penetrance Kmt2cem2(IMPC)Marc HOM   Early adult 0.00
abnormal bone structure Kmt2cem2(IMPC)Marc HET Early adult 2.11×10-06
enlarged spleen Kmt2cem2(IMPC)Marc HET Early adult 0.00
abnormal retina morphology Kmt2cem2(IMPC)Marc HET   Early adult 9.94×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Kmt2c 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.

The table below shows human diseases associated to Kmt2c by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Kleefstra Syndrome 2
Growth delay, Thick eyebrow OMIM:617768
Kleefstra Syndrome Due To A Point Mutation
Short stature, Abnormal shape of the palpebral fissure ORPHA:261652

The table below shows human diseases predicted to be associated to Kmt2c by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia ORPHA:46532
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Pyknoachondrogenesis
Stillbirth OMIM:265880
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs ORPHA:882
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia ORPHA:1802
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Anemia ORPHA:100024
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Increased bone mineral density, Reticulocytosis, Hepatomegaly, Splenomegaly, O... OMIM:611490
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Thrombocytopenia, Optic atrophy, Osteopetrosis, Anemia OMIM:615085
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Short stature, Unilateral cryptorchidism, Female infertility, Cry... ORPHA:261529
Blepharophimosis, Ptosis, And Epicanthus Inversus
Ptosis, Telecanthus, Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, ... OMIM:110100
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density ORPHA:172
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility, Delayed puberty OMIM:614324
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Duplicated lacrimal punctum, Highly arched eyebrow... ORPHA:572333
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Osteoporosis, Biliary tract abnormality, Cirrhosis, Neonata... ORPHA:79301
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Proteus Syndrome
Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Lymphangioma, Facial hyperostosis,... OMIM:176920
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Short stature, Female infertility OMIM:619518
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Abnormal macular morphology... OMIM:607616
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Myelofibrosis
Myelofibrosis, Splenomegaly, Myeloproliferative disorder OMIM:254450
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Calvarial hype... OMIM:612714
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia OMIM:614979
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Osteoporosis, Ascites, Abnormal macular morphology ORPHA:87876
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel... ORPHA:98848
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hepatomegaly, Splenomegaly, Lipogranulomatosis, Osteolyti... OMIM:228000
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice... OMIM:211600
Joubert Syndrome 33
Cone/cone-rod dystrophy, Splenomegaly OMIM:617767
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr... ORPHA:158029
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Epiphys... OMIM:256550
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosis, Lymphadenopa... OMIM:257200
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... OMIM:301078
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Beta-Thalassemia Intermedia
Osteopenia, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inad... ORPHA:231222
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Acute Panmyelosis With Myelofibrosis
Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... ORPHA:86843
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaundice, Splenomegaly, Rickets, Ac... OMIM:607765
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Increased bone mineral density, Pancytopenia, Craniosynostosis, Thrombocytopenia, S... OMIM:259700
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Essential Thrombocythemia
Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocyt... ORPHA:77259
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Gray Platelet Syndrome
Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules OMIM:139090
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Neutrophilia, Splenomegaly, Periostitis, Osteolysis OMIM:612852
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis, Lipemia retinalis OMIM:207750
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Optic atrophy, Osteopetrosis, Op... OMIM:612301
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hepatosplenomegaly, Pancreatitis, Lipemia retinalis OMIM:238600
Familial Tumoral Calcinosis
Splenomegaly, Hyperostosis, Hepatomegaly ORPHA:53715
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Osteoporosis, Neutrope... OMIM:232220
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Turner Syndrome Due To Structural X Chromosome Anomalies
Epicanthus, Premature ovarian insufficiency, Short stature, Female infertility, Postnatal growth ... ORPHA:99413
Turner Syndrome
Epicanthus, Premature ovarian insufficiency, Short stature, Female infertility, Postnatal growth ... ORPHA:881
Mosaic Monosomy X
Epicanthus, Premature ovarian insufficiency, Short stature, Female infertility, Postnatal growth ... ORPHA:99228
Monosomy X
Epicanthus, Premature ovarian insufficiency, Short stature, Female infertility, Postnatal growth ... ORPHA:99226
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Lipemia retinalis OMIM:615947
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Kleefstra Syndrome 2
Growth delay, Thick eyebrow OMIM:617768
Kleefstra Syndrome Due To A Point Mutation
Short stature, Abnormal shape of the palpebral fissure ORPHA:261652

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 Kmt2c

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 Kmt2c.

No publications found that use IMPC mice or data for Kmt2c.

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
Kmt2ctm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kmt2ctm190385(L1L2_gt1_Del_LacZ) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Kmt2cem2(IMPC)Marc Deletion Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter