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
increased blood urea nitrogen level Setd1atm1a(EUCOMM)Wtsi HET Early adult 2.26×10-17
decreased leukocyte cell number Setd1atm1a(EUCOMM)Wtsi HET Early adult 4.84×10-13
increased circulating fructosamine level Setd1atm1a(EUCOMM)Wtsi HET Early adult 3.61×10-05
decreased circulating HDL cholesterol level Setd1atm1a(EUCOMM)Wtsi HET Early adult 1.82×10-08
increased bone mineral content Setd1atm1a(EUCOMM)Wtsi HET Early adult 3.83×10-08
increased bone mineral density Setd1atm1a(EUCOMM)Wtsi HET Early adult 6.42×10-12
increased lean body mass Setd1atm1a(EUCOMM)Wtsi HET Early adult 4.39×10-14
decreased circulating cholesterol level Setd1atm1a(EUCOMM)Wtsi HET Early adult 3.19×10-08
decreased circulating LDL cholesterol level Setd1atm1a(EUCOMM)Wtsi HET Early adult 2.42×10-07
increased circulating creatinine level Setd1atm1a(EUCOMM)Wtsi HET Early adult 1.00×10-19
decreased total body fat amount Setd1atm1a(EUCOMM)Wtsi HET Early adult 6.84×10-11

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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

2 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
Joint hypermobility, Craniosynostosis, Obesity OMIM:619056
Epilepsy, Early-Onset, 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
Buschke-Ollendorff Syndrome
Flexion contracture, Connective tissue nevi, Joint stiffness, Osteopoikilosis OMIM:166700
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral den... OMIM:241520
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Melorheostosis
Atypical scarring of skin, Ectopic ossification in muscle tissue, Increased bone mineral density,... ORPHA:2485
Peroxisome Biogenesis Disorder 3B
Osteoporosis, Failure to thrive, Steatorrhea, Hypocholesterolemia OMIM:266510
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Sickle Cell Anemia
Osteoporosis, Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chron... ORPHA:232
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Failure to thrive, Hypocholesterolemia OMIM:616834
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Hypercholesterolemia, Gout, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia, Failure to thrive, Splenomegaly OMIM:607765
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Azotemia, Familial
Azotemia OMIM:109160
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Failure to thrive in infancy, Hypocholest... OMIM:618156
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Macular scar, Ankylosis, Hydroxyprolinemia, Hydroxyprolinuria, Recurrent fractures,... OMIM:239000
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pancytopenia, Thro... OMIM:259700
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Flexion contracture, Small for gestational age OMIM:616733
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Preeclampsia
Thrombocytopenia, Elevated circulating creatinine concentration, Small for gestational age ORPHA:275555
Dysplastic Cortical Hyperostosis
Splenomegaly, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration, Synovitis, Arthritis ORPHA:567544
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612926
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevated circu... OMIM:235400
Analbuminemia
Osteoporosis, Hypercholesterolemia, Elevated circulating transferrin concentration, Lipodystrophy... OMIM:616000
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Thrombocytopenia, Elevated circulating C-reactive protein concentr... ORPHA:231111
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Albers-Schönberg Osteopetrosis
Hypocalcemia, Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Anemia, ... ORPHA:53
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Anemia, Splenomegaly, Arthritis ORPHA:37748
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Craniosynostosis, Episodic hemolytic anemia, Increased blood u... ORPHA:251004
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Refractory anemia, Leukopenia, H... OMIM:231095
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Decreased body weight, Umbilical hernia, Increased bone minera... OMIM:614856
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis OMIM:607665
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevated circu... OMIM:274150
C3 Glomerulopathy
Elevated circulating creatinine concentration, Lipodystrophy ORPHA:329918
Chylomicron Retention Disease
Acanthocytosis, Failure to thrive, Steatorrhea, Hypocholesterolemia ORPHA:71
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:256840
Buschke-Ollendorff Syndrome
Craniosynostosis, Atypical scarring of skin, Flexion contracture, Connective tissue nevi, General... ORPHA:1306
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Hypocalcemia, Increased bone density with cystic changes, Hypocalcemic tetany,... ORPHA:94089
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Potocki-Lupski Syndrome
Small for gestational age, Failure to thrive, Hypocholesterolemia OMIM:610883
Relapsing Fever
Increased total bilirubin, Leukocytosis, Elevated circulating creatinine concentration, Thrombocy... ORPHA:91547
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Hypocholester... OMIM:212065
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Flexion contracture, ... ORPHA:77297
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... OMIM:166600
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Abnormal erythrocyte morphology, Decreased body weight, Hypocholesterolemia... ORPHA:96180
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Thrombocytopenia, Splenomegaly, Failure to thrive, Anemia OMIM:615085
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Recurrent fractures, Osteopetrosis, Pancytopenia, Cranial hyperosto... OMIM:259710
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Generalized osteosclerosis OMIM:215045
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Inguinal hernia OMIM:614376
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Increased bone mineral density, Hyperphosphatemia, Hypocalcemi... ORPHA:36913
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Diffuse Alveolar Hemorrhage
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Thrombocytopenia, Anemia ORPHA:90060
Abetalipoproteinemia
Hypotriglyceridemia, Reticulocytosis, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia, Decre... ORPHA:14
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Abnormal vertebral segmentation and fus... ORPHA:90650
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout, Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Gaucher Disease Type 1
Osteolysis, Increased bone mineral density, Pancytopenia, Thrombocytopenia, Splenomegaly, Patholo... ORPHA:77259
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Isolated Osteopoikilosis
Generalized osteosclerosis ORPHA:166119
Diastrophic Dwarfism
Camptodactyly of finger, Joint hyperflexibility, Joint stiffness, Increased bone mineral density ORPHA:628
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Osteoarthritis of the distal interphalangeal join... ORPHA:93284
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Osteopetrosis, Thrombocytopenia, Reduced bone mineral density, Anemia, Splen... ORPHA:2785
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Osteopetrosis, Pancytopenia, Thro... OMIM:259720
Hereditary Renal Hypouricemia
Hypouricemia, Hyperuricosuria, Increased blood urea nitrogen ORPHA:94088
Cockayne Syndrome Type 1
Enamel hypoplasia, Increased blood urea nitrogen, Scarring, Contractures involving the joints of ... ORPHA:90321
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Tooth abscess, R... ORPHA:289176
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia ORPHA:230
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Recurrent fractures, Osteopetrosis, Thrombocytopenia, Anemia, Splenomegaly, Hepa... OMIM:611490
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Cellulitis, Elevated circulating creatinine concentration, Increased circulating me... ORPHA:36234
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Failure to th... OMIM:605814
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Dysosteosclerosis
Abnormal dental enamel morphology, Craniofacial hyperostosis, Recurrent fractures, Increased bone... ORPHA:1782
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Rheumatoid arthriti... ORPHA:49041
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Transient hypophosphatemia, Increased bone mineral density, Small for gestational a... OMIM:127000
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Weight loss, Pathologic fracture... ORPHA:29073
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:612840
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed patellar ossification, Abnormal bone ossification, Increased bone mineral density ORPHA:163649
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Tricho-Dento-Osseous Syndrome
Periapical tooth abscess, Dental enamel pits, Enamel hypomineralization, Increased bone mineral d... ORPHA:3352
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Tangier Disease
Hypocholesterolemia, Thrombocytopenia, Hypertriglyceridemia, Anemia, Hepatosplenomegaly ORPHA:31150
X-Linked Hypophosphatemia
Hypophosphatemia, Craniosynostosis, Cellulitis, Rickets, Tooth abscess, Generalized osteosclerosi... ORPHA:89936
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Camurati-Engelmann Disease
Slender build, Cortical thickening of long bone diaphyses, Increased bone mineral density, Anemia... OMIM:131300
Poems Syndrome
Sclerosis of hand bone, Thrombocytosis, Polycythemia, Lipodystrophy, Weight loss, Sclerosis of fo... ORPHA:2905
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:79126
Gaucher Disease
Osteolysis, Arthrogryposis multiplex congenita, Recurrent fractures, Increased bone mineral densi... ORPHA:355
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Hypocalcemia, Hypocalcemic tetany, Increased bone mineral density, Calcinosis,... ORPHA:79444
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Gout, Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Osteopathia Striata-Cranial Sclerosis Syndrome
Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, Increased bone mineral ... ORPHA:2780
Werner Syndrome
Osteoporosis, Slender build, Chondrocalcinosis, Lipodystrophy, Lipoatrophy, Increased bone minera... ORPHA:902
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Thin bony cortex, Increased bone mineral density ORPHA:85184
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Hypocalcemia, Hypocalcemic tetany, Increased bone mineral density, Calcinosis,... ORPHA:79443
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Patchy osteosclerosis OMIM:241410
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Osteopetrosis OMIM:618476
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creatinine... ORPHA:90038
Desmosterolosis
Arthrogryposis multiplex congenita, Generalized osteosclerosis, Joint contracture of the hand, Fa... OMIM:602398
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Trichothiodystrophy
Enamel hypoplasia, Craniosynostosis, Increased mean corpuscular hemoglobin concentration, Absence... ORPHA:33364
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Schwartz-Jampel Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Flexion contracture of toe, Umbilical hernia, I... ORPHA:800
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Congenital Disorder Of Glycosylation, Type Iit
Iron deficiency anemia, Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholestero... OMIM:618885
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Raine Syndrome
Hypophosphatemia, Arthrogryposis multiplex congenita, Enamel hypoplasia, Increased bone mineral d... OMIM:259775
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Normochromic anemia, Normocytic anemia ORPHA:247691
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Dysosteosclerosis
Sclerosis of hand bone, Clavicular sclerosis, Increased susceptibility to fractures, Sclerotic sc... OMIM:224300
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Massively thickened long bone cortices, Increased bone mineral... ORPHA:1798
Sanjad-Sakati Syndrome
Hypocalcemia, Abnormal dental enamel morphology, Hyperphosphatemia, Patchy osteosclerosis ORPHA:2323
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Omphalocele, Carpal synos... ORPHA:90652
Desmosterolosis
Splenomegaly, Osteopetrosis, Failure to thrive, Increased bone mineral density ORPHA:35107
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Absent ossification of calvaria, Absent ossific... OMIM:601376
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Erdheim-Chester Disease
Xanthelasma, Osteolysis, Weight loss, Increased bone mineral density, Anemia, Osteomyelitis ORPHA:35687
Gaucher Disease Type 3
Osteolysis, Increased bone mineral density, Pancytopenia, Thrombocytopenia, Increased susceptibil... ORPHA:77261
Lenz-Majewski Hyperostotic Dwarfism
Abnormal dental enamel morphology, Joint hyperflexibility, Elbow ankylosis, Osteopetrosis, Abnorm... ORPHA:2658
Oligomeganephronia
Elevated circulating creatinine concentration, Small for gestational age, Congenital diaphragmati... ORPHA:2260
12Q14 Microdeletion Syndrome
Abnormality of the spleen, Failure to thrive, Osteopoikilosis ORPHA:94063
Hyperoxaluria, Primary, Type I
Pathologic fracture, Hyperoxaluria, Increased bone mineral density OMIM:259900
Atypical Werner Syndrome
Osteoporosis, Sclerosis of hand bone, Chondrocalcinosis, Lipoatrophy, Decreased body weight, Incr... ORPHA:79474
Smith-Lemli-Opitz Syndrome
Epiphyseal stippling, Elevated 7-dehydrocholesterol, Failure to thrive, Hypocholesterolemia OMIM:270400
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Osteopetrosis, Cranial hyperostosis, Anemia, Hepatosplenomegaly, Di... OMIM:259730
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis, Anemia, Splenomegaly, Hypocalcemic seizures OMIM:612301
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Primary Hyperoxaluria
Failure to thrive, Recurrent fractures, Hyperoxaluria, Generalized osteosclerosis ORPHA:416
Renal Cysts And Diabetes Syndrome
Gout, Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Craniosynostosis, Recurrent fractures, Osteopetrosis, Reduced bon... ORPHA:667
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Weight lo... ORPHA:449395
Cleidocranial Dysplasia
Enamel hypoplasia, Delayed pubic bone ossification, Increased susceptibility to fractures, Increa... OMIM:119600
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Goodpasture Syndrome
Weight loss, Increased blood urea nitrogen, Anemia OMIM:233450
Williams Syndrome
Osteoporosis, Abnormal dental enamel morphology, Radioulnar synostosis, Joint laxity, Synostosis ... ORPHA:904
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Reduced hematocrit, Aminoaciduria, Weight loss, No... ORPHA:91500
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... OMIM:269500
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Splenopancreatic fusion, Failure to thrive, Sclerosis of skull b... OMIM:269150
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Joint hypermobility, Craniosynostosis, Obesity OMIM:619056
Epilepsy, Early-Onset, 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 - MPATH diagnostic term lymphoid neoplasms Setd1atm1a(EUCOMM)Wtsi HET Early adult
Lymph node - neoplasm Setd1atm1a(EUCOMM)Wtsi HET Early adult
Lymph node - hyperplasia 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 9 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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) Setd1atm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Setd1atm1a(EUCOMM)Wtsi