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Gene: Kmt2c MGI:2444959

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

Download data as:  TSV  XLS

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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
Thick eyebrow, Growth delay OMIM:617768
Kleefstra Syndrome Due To A Point Mutation
Abnormal shape of the palpebral fissure, Short stature 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
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 4
Female infertility, Oocyte arrest at metaphase I OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
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, Female infertility, Delayed puberty, Primary amenorrhea OMIM:300604
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Hepatomegaly, Abnormal bone structure, Splenomegaly 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 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
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility OMIM:617996
Progesterone Resistance
Female infertility OMIM:264080
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal spermatogenesis, Abnormal meiosis ORPHA:488191
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea OMIM:615555
Pyknoachondrogenesis
Stillbirth OMIM:265880
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Asherman Syndrome
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... ORPHA:137686
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly, Rickets of the lower limbs ORPHA:882
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment OMIM:617572
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... OMIM:312700
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Oligomenorrhea OMIM:617442
Familial Drusen
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... ORPHA:75376
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea, St... OMIM:612310
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Mu-Heavy Chain Disease
Anemia, Splenomegaly, Abnormal B cell count, Osteolysis, Lymphadenopathy, Hepatomegaly, Osteoporosis ORPHA:100024
Polyendocrine-Polyneuropathy Syndrome
Short stature, Hypogonadism, Postnatal growth retardation OMIM:616113
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly 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
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Anisopoikilocytosis, Myelofibrosis, Thrombocytopenia, Splenomegaly OMIM:617441
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly, Hepatomegaly ORPHA:2204
Osteopetrosis, Autosomal Recessive 4
Anemia, Optic atrophy, Optic disc pallor, Increased bone mineral density, Reticulocytosis, Hepato... OMIM:611490
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Osteopetrosis, Autosomal Recessive 8
Anemia, Optic atrophy, Hepatomegaly, Thrombocytopenia, Osteopetrosis, Splenomegaly OMIM:615085
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Blepharophimosis, Premature ovarian insufficiency, Ptosis, Epicanthus inv... OMIM:110100
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
S-shaped palpebral fissures, Thick eyebrow, Telecanthus, Punctal stenosis, Ectopic lacrimal punct... ORPHA:572333
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Hepatomegaly, Splenomegaly, Reduced bone mineral density ORPHA:172
Ovarian Dysgenesis 3
Delayed puberty, Female infertility, Primary amenorrhea OMIM:614324
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Osteoporosis,... ORPHA:79301
Ring Chromosome Y Syndrome
Abnormal spermatogenesis, Short stature, Azoospermia, Male hypogonadism, Female infertility, Male... ORPHA:261529
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Osteopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:610539
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration, Splenomegaly OMIM:602271
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, Retinopathy, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F... ORPHA:251380
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Proteus Syndrome
Thin bony cortex, Facial hyperostosis, Lymphangioma, Calvarial hyperostosis, Splenomegaly, Mandib... OMIM:176920
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility, Short stature OMIM:619518
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Abnormal macular morphology, Bone-marrow foam cells, Hepatomegaly... OMIM:607616
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... OMIM:612840
Myelofibrosis
Splenomegaly, Myelofibrosis, Myeloproliferative disorder OMIM:254450
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Jaundice, Osteopenia, Hepatomegaly, Calvarial hyperostosis, An... OMIM:612714
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia OMIM:614979
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Anemia, Osteopenia, Hepatomegaly OMIM:618107
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia ORPHA:228312
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... ORPHA:1414
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Indolent Systemic Mastocytosis
Mastocytosis, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomega... ORPHA:98848
Schnitzler Syndrome
Anemia, Increased bone mineral density, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly ORPHA:37748
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:614480
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis OMIM:269600
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly OMIM:618963
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:616622
Farber Lipogranulomatosis
Osteolytic defects of the phalanges of the hand, Osteolysis involving bones of the feet, Lipogran... OMIM:228000
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly OMIM:610293
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly OMIM:224100
Alpha-Thalassemia
Anemia, Splenomegaly, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Cholelithia... ORPHA:846
Joubert Syndrome 33
Splenomegaly, Cone/cone-rod dystrophy OMIM:617767
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Retinopathy, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia,... ORPHA:158029
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Rickets, Osteopenia, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ... OMIM:211600
Beta-Thalassemia
Anemia, Hepatitis, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Abnormal hemoglobin, Splenomeg... ORPHA:848
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... OMIM:614470
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Classic Hodgkin Lymphoma
Osteolysis, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly ORPHA:391
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Neuraminidase Deficiency
Epiphyseal stippling, Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lym... OMIM:256550
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Cherry red spot of the macula, Prolonged neonatal jaundice, Osteoporosis,... OMIM:257200
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Myelofibrosis, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis,... OMIM:301078
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Osteolysis, Lymphadenopathy, Autoimmune hemolytic anemia, He... ORPHA:100026
Beta-Thalassemia Intermedia
Cholelithiasis, Splenomegaly, Cirrhosis, Abnormality of the liver, Increased HbA2 hemoglobin, Jau... ORPHA:231222
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... OMIM:619849
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... ORPHA:75564
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Myelofibrosis... ORPHA:86843
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Splenomegaly OMIM:214900
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Acholic stools, Intrahepatic cholestasis, Rickets, Giant cell hepatitis, Hep... OMIM:607765
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Jaundice, Portal fibrosis, Hepatomegaly, Iron deficiency anemia, Portal hyperte... OMIM:616278
Osteopetrosis, Autosomal Recessive 1
Anemia, Calvarial osteosclerosis, Optic atrophy, Increased bone mineral density, Pancytopenia, He... OMIM:259700
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... OMIM:616689
Nephronophthisis 19
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... OMIM:616217
Deafness-Lymphedema-Leukemia Syndrome
Abnormal optic nerve morphology, Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocell... ORPHA:3226
Essential Thrombocythemia
Abnormal platelet morphology, Splenomegaly, Myelofibrosis, Acute leukemia ORPHA:3318
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Nonspherocytic hemolyt... OMIM:235700
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly OMIM:185000
Sickle Cell Disease
Cholelithiasis, Splenomegaly, Retinopathy, Hemolytic anemia, Target cells, Jaundice, Splenic infa... OMIM:603903
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:79292
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bile duct pr... OMIM:602347
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Thrombocytopenia, Hepatomega... OMIM:619463
Gaucher Disease Type 1
Leukopenia, Cirrhosis, Anemia, Increased bone mineral density, Hypersplenism, Pancytopenia, Bilia... ORPHA:77259
Spherocytosis, Type 4
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:612653
Overhydrated Hereditary Stomatocytosis
Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... ORPHA:3203
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Myelofibrosis, Abnormal number of alpha granules OMIM:139090
Spherocytosis, Type 1
Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis OMIM:182900
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Aromatase Deficiency
Female infertility, Male infertility, Growth delay, Hypergonadotropic hypogonadism, Primary ameno... ORPHA:91
Spherocytosis, Type 2
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... ORPHA:64743
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegaly, Elevated hepatic iron co... OMIM:615234
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic stools, Portal fibrosis, ... OMIM:617394
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Osteolysis, Periostitis, Osteopenia, Hepatomegaly, Splenomegaly OMIM:612852
Elliptocytosis 1
Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia OMIM:611804
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Erythroid hyperplasia, Reticulocytosis, Cholecystitis, Chronic hemolytic anemia, Decrea... OMIM:266200
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly, Lipemia retinalis OMIM:207750
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... OMIM:613470
Osteopetrosis, Autosomal Recessive 7
Anemia, Optic nerve compression, Optic atrophy, Abnormal trabecular bone morphology, Hepatomegaly... OMIM:612301
Gaucher Disease, Type I
Anemia, Hypersplenism, Macular atrophy, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:230800
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... OMIM:194380
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... OMIM:602450
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... OMIM:224120
Hyperlipoproteinemia, Type I
Splenomegaly, Lipemia retinalis, Jaundice, Hepatosplenomegaly, Pancreatitis OMIM:238600
Familial Tumoral Calcinosis
Hyperostosis, Splenomegaly, Hepatomegaly ORPHA:53715
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... ORPHA:3202
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... OMIM:603554
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anis... OMIM:300908
Glycogen Storage Disease Ib
Lipemia retinalis, Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Osteoporosis, Pancrea... OMIM:232220
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Enlarged kidney, Poly... OMIM:208540
Turner Syndrome Due To Structural X Chromosome Anomalies
Neck pterygia, Short stature, Secondary amenorrhea, Epicanthus, Premature ovarian insufficiency, ... ORPHA:99413
Turner Syndrome
Neck pterygia, Short stature, Secondary amenorrhea, Epicanthus, Premature ovarian insufficiency, ... ORPHA:881
Mosaic Monosomy X
Neck pterygia, Short stature, Secondary amenorrhea, Epicanthus, Premature ovarian insufficiency, ... ORPHA:99228
Monosomy X
Neck pterygia, Short stature, Secondary amenorrhea, Epicanthus, Premature ovarian insufficiency, ... ORPHA:99226
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Splenomegaly, Lipemia retinalis, Hepatomegaly, Pancreatitis OMIM:615947
Hereditary Elliptocytosis
Stomatocytosis, Splenomegaly, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaun... ORPHA:288
Kleefstra Syndrome 2
Thick eyebrow, Growth delay OMIM:617768
Kleefstra Syndrome Due To A Point Mutation
Abnormal shape of the palpebral fissure, Short stature 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.

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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

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