Gene Summary

Name:
SET domain containing 1A
Synonyms:
KMT2F

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
decreased circulating HDL cholesterol level Setd1atm1a(EUCOMM)Wtsi HET Early adult 3.22×10-08
decreased total body fat amount Setd1atm1a(EUCOMM)Wtsi HET Early adult 8.13×10-10
increased circulating fructosamine level Setd1atm1a(EUCOMM)Wtsi HET   Early adult 1.15×10-05
decreased leukocyte cell number Setd1atm1a(EUCOMM)Wtsi HET Early adult 4.97×10-13
increased circulating creatinine level Setd1atm1a(EUCOMM)Wtsi HET Early adult 2.43×10-33
decreased circulating LDL cholesterol level Setd1atm1a(EUCOMM)Wtsi HET Early adult 8.49×10-07
increased blood urea nitrogen level Setd1atm1a(EUCOMM)Wtsi HET Early adult 1.08×10-17
increased bone mineral density Setd1atm1a(EUCOMM)Wtsi HET Early adult 6.02×10-07
decreased circulating cholesterol level Setd1atm1a(EUCOMM)Wtsi HET Early adult 3.39×10-08

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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.

Histopathology

Images

4 Images

Legacy Phenotype Associated Images

View all 110 images

Human diseases caused by Setd1a 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 Setd1a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Aggressive behavior OMIM:619056
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
OMIM:618832

The table below shows human diseases predicted to be associated to Setd1a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Buschke-Ollendorff Syndrome
Connective tissue nevi, Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine... OMIM:620366
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Melorheostosis With Osteopoikilosis
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc... OMIM:246700
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... ORPHA:210110
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... OMIM:615558
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, Anemia OMIM:617056
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... OMIM:613845
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Hypocholesterolemia OMIM:266510
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Melorheostosis
Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Hyperostosis, Arthrit... ORPHA:2485
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Hypocholesterolemia OMIM:607765
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elbow flexion contracture, Decreased LDL cholestero... OMIM:618156
Idiopathic Non-Lupus Full-House Nephropathy
Arthritis, Elevated circulating creatinine concentration, Synovitis ORPHA:567544
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thrombocytopenia, ... OMIM:259700
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... OMIM:179800
Analbuminemia
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... OMIM:616000
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... ORPHA:53
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Elevated circulating creatinine concentration OMIM:616733
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Aminoaciduria, Rickets OMIM:615605
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... OMIM:231095
Schnitzler Syndrome
Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia ORPHA:37748
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... OMIM:274150
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Hydroxy... OMIM:239000
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... OMIM:611490
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Recurrent fractures, Craniosynostosis, Abnormal dental enamel morphology, Increase... ORPHA:251004
C3 Glomerulopathy
Lipodystrophy, Elevated circulating creatinine concentration ORPHA:329918
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Chylomicron Retention Disease
Acanthocytosis, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Depressi... ORPHA:33543
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Hereditary Central Diabetes Insipidus
Irritability, Polydipsia ORPHA:30925
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Camptodactyly, Thrombocyt... OMIM:608104
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Orthostatic Hypotension 1
Hypomagnesemia, Joint hypermobility, Increased blood urea nitrogen OMIM:223360
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
46,Xy Sex Reversal 4
Distal symphalangism, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Depression, Irritability, Addictive alcohol use, ... ORPHA:399
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu... OMIM:259720
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... OMIM:259710
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... ORPHA:96180
Autoimmune Hypoparathyroidism
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi... ORPHA:36913
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... ORPHA:77259
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Hypoalbuminemia, ... OMIM:212065
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia ORPHA:90060
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko... ORPHA:77297
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen ORPHA:230
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Red... OMIM:614856
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Increased bo... ORPHA:94089
Alg12-Cdg
Hyponatremia, Thrombocytopenia, Hypoalbuminemia, B lymphocytopenia, Abnormal adipose tissue morph... ORPHA:79324
Diastrophic Dysplasia
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness ORPHA:628
Central Diabetes Insipidus
Polydipsia, Anorexia, Depression ORPHA:178029
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Reticulocytosis, Acanthocytosis, Decreased L... ORPHA:14
Cockayne Syndrome Type 1
Foot joint contracture, Scarring, Increased blood urea nitrogen, Enamel hypoplasia, Anemia ORPHA:90321
Bacterial Toxic-Shock Syndrome
Fasciitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Abscess, Elevated c... ORPHA:36234
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Inguinal hernia, Elevated circulating creatinine concentration OMIM:614376
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia, Gout ORPHA:79233
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification ORPHA:163649
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:49041
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia ORPHA:31150
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... OMIM:608836
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia OMIM:612840
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal dental enamel morphology, Rec... ORPHA:1782
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia OMIM:615085
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo... OMIM:618885
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Enamel hypomineralization, Periapical tooth abscess, Dental ename... ORPHA:3352
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Osteopetrosis, Throm... ORPHA:3240
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Multiple Myeloma
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperprot... ORPHA:29073
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... ORPHA:79126
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic... OMIM:127000
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Secondary Intestinal Lymphangiectasia
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,... ORPHA:90363
Werner Syndrome
Increased bone mineral density, Lipoatrophy, Lipodystrophy, Joint stiffness, Osteoporosis, Chondr... ORPHA:902
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... ORPHA:89936
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Anemia, Elevated circulating creatinine concentration, Hyperuricemia, Gout OMIM:174000
Pycnodysostosis
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... ORPHA:763
Camurati-Engelmann Disease
Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Cortic... OMIM:131300
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H... OMIM:618476
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Desmosterolosis
Generalized osteosclerosis, Abnormal circulating cholesterol concentration, Arthrogryposis multip... OMIM:602398
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... ORPHA:2780
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Ele... ORPHA:355
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Dubowitz Syndrome
Acute lymphoblastic leukemia, Inguinal hernia, Aplastic anemia, Hypocholesterolemia OMIM:223370
Poems Syndrome
Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Sclerosis of skull base, Thrombocy... ORPHA:2905
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Absenc... ORPHA:33364
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,... ORPHA:79444
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Marchiafava-Bignami Disease
Depression, Addictive alcohol use, Abnormal emotion, Aggressive behavior ORPHA:221074
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Pseudohypoparathyroidism Type 1A
Calcinosis, Increased bone mineral density, Reduced bone mineral density, Hyperostosis frontalis ... ORPHA:79443
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia, Elevated circulating creatinine concentration ORPHA:247691
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration, Anemia OMIM:266900
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia OMIM:241410
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Inguinal hernia, ... ORPHA:800
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Raine Syndrome
Increased bone mineral density, Subperiosteal bone formation, Hypophosphatemia, Arthrogryposis mu... OMIM:259775
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density, Abnormal dental enamel mo... ORPHA:1798
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... OMIM:224300
Desmosterolosis
Splenomegaly, Increased bone mineral density, Osteopetrosis ORPHA:35107
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear-induced behavior, Agitation, Restlessness, Depression ORPHA:100924
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis ORPHA:2323
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... ORPHA:99826
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Aminoacid... ORPHA:411634
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog... ORPHA:2658
Papillorenal Syndrome
Joint laxity, Elevated circulating creatinine concentration OMIM:120330
Oligomeganephronia
Elevated circulating creatinine concentration, Congenital diaphragmatic hernia ORPHA:2260
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Lipoatrophy, Limita... ORPHA:79474
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis, Xanthelasma, Anemia ORPHA:35687
Gaucher Disease Type 3
Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ... ORPHA:77261
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Irritability, Polydipsia OMIM:125800
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Irritability, Polydipsia OMIM:304800
Otopalatodigital Syndrome Type 2
Omphalocele, Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal s... ORPHA:90652
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Hyperoxaluria OMIM:259900
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Osteopetrosis OMIM:618541
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... OMIM:259730
12Q14 Microdeletion Syndrome
Abnormality of the spleen, Osteopoikilosis ORPHA:94063
Familial Cold Urticaria
Polydipsia ORPHA:47045
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Smith-Lemli-Opitz Syndrome
Splenomegaly, Epiphyseal stippling, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol co... OMIM:270400
Pediatric-Onset Graves Disease
Hyperactivity, Irritability, Emotional lability, Polydipsia, Polyphagia ORPHA:525731
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Hypocalcemic seizures, Osteopetrosis, Anemia OMIM:612301
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype... ORPHA:340
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentration, Thrombocyt... ORPHA:2785
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Brain-Lung-Thyroid Syndrome
Hyperactivity, Abnormal drinking behavior, Compulsive behaviors, Abnormal eating behavior ORPHA:209905
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, Osteopetrosis,... ORPHA:667
Secondary Non-Traumatic Avascular Necrosis
Addictive alcohol use ORPHA:399180
Pauci-Immune Glomerulonephritis
Granulomatosis, Elevated circulating creatinine concentration ORPHA:93126
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia, Gout OMIM:137920
Methanol Poisoning
Addictive alcohol use ORPHA:31825
Yellow Fever
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... ORPHA:99829
Teratoma, Pineal
Polydipsia OMIM:273120
Ochoa Syndrome
Polydipsia ORPHA:2704
Primary Hyperoxaluria
Generalized osteosclerosis, Hyperoxaluria, Recurrent fractures ORPHA:416
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Enamel hypoplasia, Increased sus... OMIM:119600
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Abnormal circulating lipid concentratio... ORPHA:904
Goodpasture Syndrome
Anemia, Increased blood urea nitrogen OMIM:233450
Cystinosis
Polydipsia, Abnormal repetitive mannerisms ORPHA:213
Whipple Disease
Polydipsia, Anorexia, Depression ORPHA:3452
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:91500
East Syndrome
Polydipsia, Salt craving ORPHA:199343
Acute Lung Injury
Addictive alcohol use ORPHA:178320
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concen... OMIM:619534
Familial Hyperaldosteronism Type Iii
Polydipsia ORPHA:251274
Bardet-Biedl Syndrome 17
Polydipsia OMIM:615994
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating creatinine concentration, Decreased retinol-binding protein le... ORPHA:449395
Herpes Simplex Virus Encephalitis
Addictive alcohol use ORPHA:1930
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Nephronophthisis 4
Polydipsia OMIM:606966
Nephrogenic Diabetes Insipidus
Polydipsia, Anorexia ORPHA:223
Acute Promyelocytic Leukemia
Addictive alcohol use, Anorexia ORPHA:520
Staphylococcal Necrotizing Pneumonia
Addictive alcohol use ORPHA:36238
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia ORPHA:369929
Acquired Aneurysmal Subarachnoid Hemorrhage
Addictive alcohol use ORPHA:90065
Primary Unilateral Adrenal Hyperplasia
Polydipsia ORPHA:231580
Septo-Optic Dysplasia Spectrum
Polydipsia ORPHA:3157
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... OMIM:269500
Nephronophthisis 3
Polydipsia OMIM:604387
Nephronophthisis 1
Polydipsia OMIM:256100
Apparent Mineralocorticoid Excess
Polydipsia ORPHA:320
Ethylene Glycol Poisoning
Addictive alcohol use, Euphoria ORPHA:31826
Nephronophthisis 11
Polydipsia OMIM:613550
Senior-Boichis Syndrome
Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:84081
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polydipsia, Salt craving OMIM:612780
Renal Hypoplasia
Polydipsia ORPHA:93101
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones, Splenop... OMIM:269150
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors, Emotional labilit... ORPHA:293987
Hyperparathyroidism, Neonatal Severe
Polydipsia OMIM:239200
Cirrhotic Cardiomyopathy
Addictive alcohol use ORPHA:57777
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Panhypophysitis
Polydipsia ORPHA:95513
Gitelman Syndrome
Polydipsia, Salt craving OMIM:263800
Helix Syndrome
Polydipsia OMIM:617671
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353281
Porphyria Cutanea Tarda
Addictive alcohol use ORPHA:101330
Toxic Epidermal Necrolysis
Polydipsia, Dysphagia ORPHA:537
Rabson-Mendenhall Syndrome
Polydipsia ORPHA:769
Hypomagnesemia 3, Renal
Polydipsia OMIM:248250
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353277
Infantile Nephropathic Cystinosis
Polydipsia ORPHA:411629
Wolfram Syndrome
Polydipsia ORPHA:3463
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Dysphagia ORPHA:99880
Parathyroid Carcinoma
Polydipsia, Dysphagia ORPHA:143
Distal Renal Tubular Acidosis
Polydipsia ORPHA:18
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia ORPHA:93111
Arima Syndrome
Polydipsia OMIM:243910
Cystinosis, Nephropathic
Polydipsia, Dysphagia, Oral-pharyngeal dysphagia OMIM:219800
Gitelman Syndrome
Polydipsia, Salt craving ORPHA:358
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia OMIM:602522
Autosomal Recessive Polycystic Kidney Disease
Polydipsia ORPHA:731
Proximal Renal Tubular Acidosis
Polydipsia ORPHA:47159
Bartter Syndrome, Type 2, Antenatal
Polydipsia OMIM:241200
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Aggressive behavior OMIM:619056
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
OMIM:618832

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.

Phenotype Allele Zygosity Sex Life Stage
Lymph node - neoplasm Setd1atm1a(EUCOMM)Wtsi HET Early adult
Lymph node - hyperplasia Setd1atm1a(EUCOMM)Wtsi HET Early adult
Lymph node - MPATH diagnostic term lymphoid neoplasms Setd1atm1a(EUCOMM)Wtsi HET Early adult

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 Setd1a.

There are 11 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Developmental disruption to the cortical transcriptome and synaptosome in a model of SETD1A loss-of-function. Human molecular genetics (September 2022) Setd1atm1a(EUCOMM)Wtsi PMC9476630
An in vitro model of neuronal ensembles. Nature communications (June 2022) Setd1atm1a(EUCOMM)Wtsi PMC9184643
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Setd1atm1.2(IMPC)Wtsi Setd1atm1b(EUCOMM)Wtsi PMC7263671
Recapitulation and Reversal of Schizophrenia-Related Phenotypes in Setd1a-Deficient Mice. Neuron (October 2019) Setd1atm1c(EUCOMM)Wtsi Setd1atm1a(EUCOMM)Wtsi 31606247
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)