Gene Summary

Name:
SET domain containing 1B
Synonyms:
KMT2G

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 total body fat amount Setd1btm1.2(IMPC)Wtsi HET Early adult 1.03×10-13
decreased circulating HDL cholesterol level Setd1btm1.2(IMPC)Wtsi HET Early adult 1.69×10-05
decreased circulating triglyceride level Setd1btm1.2(IMPC)Wtsi HET Early adult 9.10×10-05
increased bone mineral density Setd1btm1.2(IMPC)Wtsi HET Early adult 2.79×10-06
decreased circulating cholesterol level Setd1btm1.2(IMPC)Wtsi HET Early adult 1.17×10-05
increased lean body mass Setd1btm1.2(IMPC)Wtsi HET Early adult 5.60×10-15
decreased circulating amylase level Setd1btm1.2(IMPC)Wtsi HET Early adult 3.35×10-08

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 Setd1b 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 Setd1b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Dominant Non-Syndromic Intellectual Disability
Short stature ORPHA:178469
Intellectual Developmental Disorder With Seizures And Language Delay
OMIM:619000

The table below shows human diseases predicted to be associated to Setd1b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Buschke-Ollendorff Syndrome
Joint stiffness, Connective tissue nevi, Osteopoikilosis, Flexion contracture OMIM:166700
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... OMIM:246700
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Multiple lipomas, Osteopoikilosis ORPHA:1879
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... OMIM:241520
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Isolated Osteopoikilosis
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... ORPHA:166119
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypocholesterolemia OMIM:610539
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Melorheostosis
Failure to thrive, Joint stiffness, Increased bone mineral density, Arthritis, Ectopic ossificati... ORPHA:2485
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Gout, Osteoporosis, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... OMIM:616834
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia OMIM:232700
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Osteoporosis, Steatorrhea OMIM:266510
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... ORPHA:2790
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... OMIM:615558
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis ORPHA:564003
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... ORPHA:566943
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia, Rickets OMIM:607765
Sclerosteosis
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis ORPHA:3152
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... OMIM:605814
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis OMIM:122860
Osteogenesis Imperfecta, Type Xiii
Decreased body weight, Increased bone mineral density, Osteoporosis, Umbilical hernia, Joint hype... OMIM:614856
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... ORPHA:210110
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Generalized lipodystrophy, Hypertriglyceridemi... OMIM:612526
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Potocki-Lupski Syndrome
Failure to thrive, Hypocholesterolemia, Small for gestational age OMIM:610883
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... ORPHA:1306
Paget Disease Of Bone 5, Juvenile-Onset
Failure to thrive, Recurrent fractures, Increased bone mineral density, Hydroxyprolinemia, Osteop... OMIM:239000
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Osteomyelitis, Hypocalcemia, Increased bone mineral density, Craniosynostosis,... OMIM:259700
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Steatorrhea ORPHA:71
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Enamel hypoplasia, Hypocalcem... ORPHA:94089
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Albers-Schönberg Osteopetrosis
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Osteoarthritis, Arthr... ORPHA:53
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... ORPHA:96180
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Limitation of joint mobility, Synostosis of carpal bo... ORPHA:90650
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Flexion contracture, Steatorrhea, Osteopenia, Hypocholesterolemia, Hypoalbumin... OMIM:212065
Autoimmune Hypoparathyroidism
Hypocalcemia, Increased bone mineral density, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemi... ORPHA:36913
Spondyloepiphyseal Dysplasia Tarda
Failure to thrive, Increased bone mineral density, Abnormally ossified vertebrae, Stiff knee, Lim... ORPHA:93284
Diastrophic Dysplasia
Joint stiffness, Camptodactyly of finger, Joint hyperflexibility, Increased bone mineral density ORPHA:628
Dysosteosclerosis
Abnormal dental enamel morphology, Recurrent fractures, Increased bone mineral density, Coarse me... ORPHA:1782
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... ORPHA:86816
Majeed Syndrome
Failure to thrive, Osteomyelitis, Increased bone mineral density, Flexion contracture, Cachexia, ... ORPHA:77297
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Abetalipoproteinemia
Failure to thrive, Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Steator... ORPHA:14
Alg12-Cdg
Failure to thrive, Abnormal bone ossification, Abnormal adipose tissue morphology, Camptodactyly,... ORPHA:79324
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Metaphyseal Dysplasia, Braun-Tinschert Type
Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan... ORPHA:85188
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification ORPHA:163649
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... ORPHA:289176
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Werner Syndrome
Slender build, Joint stiffness, Lipoatrophy, Increased bone mineral density, Chondrocalcinosis, O... ORPHA:902
Camurati-Engelmann Disease
Slender build, Reduced subcutaneous adipose tissue, Sclerosis of skull base, Cortical thickening ... OMIM:131300
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Failure to thrive OMIM:615085
Tricho-Dento-Osseous Syndrome
Enamel hypomineralization, Increased bone mineral density, Dental enamel pits ORPHA:3352
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Increased bone mineral density, Small for gestational age, Hyperphosphatemia, Trans... OMIM:127000
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Osteopetrosis... OMIM:259710
Pycnodysostosis
Increased bone mineral density, Coronal craniosynostosis, Enamel hypoplasia, Generalized osteoscl... ORPHA:763
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
X-Linked Hypophosphatemia
Hypophosphatemia, Cellulitis, Craniosynostosis, Reduced bone mineral density, Arthritis, Vertebra... ORPHA:89936
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Facial hyper... ORPHA:2780
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Increased bone mineral density, Decreased osteoclast count, Ost... OMIM:259720
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Secondary hyperaldosteronism, Decreased prealbumin... ORPHA:90363
Poems Syndrome
Sclerosis of skull base, Sclerosis of foot bone, Lipodystrophy, Weight loss, Sclerosis of hand bone ORPHA:2905
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Desmosterolosis
Failure to thrive, Joint contracture of the hand, Generalized osteosclerosis, Abnormal circulatin... OMIM:602398
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... OMIM:601376
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Increased bone mineral density, Ectopic ossification, Enamel hypoplasia, Hypocalcem... ORPHA:79444
Dysosteosclerosis
Sclerosis of skull base, Osteopenia, Clavicular sclerosis, Sclerotic scapulae, Increased suscepti... OMIM:224300
Gaucher Disease Type 1
Increased bone mineral density, Osteopenia, Osteoarthritis, Pathologic fracture, Osteolysis ORPHA:77259
Schwartz-Jampel Syndrome
Hip contracture, Joint stiffness, Decreased body weight, Increased bone mineral density, Inguinal... ORPHA:800
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Increased bone mineral density, Reduced bone mineral density, Ectopic ossification,... ORPHA:79443
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Hypocalcemia OMIM:618476
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density, Abnormal dental enamel mo... ORPHA:1798
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity, Hypercholesterolemia OMIM:615812
Desmosterolosis
Osteopetrosis, Failure to thrive, Increased bone mineral density ORPHA:35107
Atypical Werner Syndrome
Failure to thrive, Decreased body weight, Lipoatrophy, Increased bone mineral density, Reduced bo... ORPHA:79474
Otopalatodigital Syndrome Type 2
Failure to thrive, Carpal synostosis, Increased bone mineral density, Abnormal vertebral segmenta... ORPHA:90652
Raine Syndrome
Hypophosphatemia, Increased bone mineral density, Enamel hypoplasia, Arthrogryposis multiplex con... OMIM:259775
Trichothiodystrophy
Multiple joint contractures, Increased bone mineral density, Craniosynostosis, Osteopenia, Enamel... ORPHA:33364
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Recurrent fractures OMIM:611490
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Inguinal hernia, Increased bone mineral density, Osteopetrosis, Joint hyperflexi... ORPHA:2658
Dubowitz Syndrome
Hypocholesterolemia, Inguinal hernia OMIM:223370
Gaucher Disease
Joint stiffness, Recurrent fractures, Osteomyelitis, Elevated circulating C-reactive protein conc... ORPHA:355
Erdheim-Chester Disease
Osteomyelitis, Increased bone mineral density, Osteolysis, Xanthelasma, Weight loss ORPHA:35687
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hypocalcemia, Hyperphosphatemia, Abnormal dental enamel morphology ORPHA:2323
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
12Q14 Microdeletion Syndrome
Failure to thrive, Osteopoikilosis ORPHA:94063
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Hyperoxaluria, Pathologic fracture OMIM:259900
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Smith-Lemli-Opitz Syndrome
Failure to thrive, Elevated 7-dehydrocholesterol, Hypocholesterolemia, Hypoalbuminemia, Epiphysea... OMIM:270400
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Diaphyseal sclerosis, Cranial hyperostosis OMIM:259730
Primary Hyperoxaluria
Recurrent fractures, Failure to thrive, Generalized osteosclerosis, Hyperoxaluria ORPHA:416
Gaucher Disease Type 3
Osteolysis, Increased bone mineral density, Increased susceptibility to fractures ORPHA:77261
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology, Hypocalcemic seizures OMIM:612301
Cleidocranial Dysplasia 1
Enamel hypoplasia, Delayed pubic bone ossification, Increased bone mineral density, Increased sus... OMIM:119600
Williams Syndrome
Joint stiffness, Increased bone mineral density, Inguinal hernia, Abnormal circulating lipid conc... ORPHA:904
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Hypophosphatemia, Hypocalcemia, Craniosynostosis, Osteopetrosis, Reduced bon... ORPHA:667
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Recurrent fractures, Hypocalcemia, Osteopetrosis, Elevated circulating creatin... ORPHA:2785
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... OMIM:269500
Schinzel-Giedion Midface Retraction Syndrome
Failure to thrive, Sclerosis of skull base, Thickened cortex of long bones, Increased density of ... OMIM:269150
Autosomal Dominant Non-Syndromic Intellectual Disability
Short stature ORPHA:178469
Intellectual Developmental Disorder With Seizures And Language Delay
OMIM:619000

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 Setd1b

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 Setd1b.

There are 1 publication 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) Setd1btm1.2(IMPC)Wtsi PMC7263671

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MGI Allele Allele Type Produced
Setd1btm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Setd1btm1.2(IMPC)Wtsi Reporter-tagged deletion allele (post Flp, with no reporter and selection cassette) Mice
Setd1btm1(IMPC)Wtsi Reporter-tagged deletion allele (with selection cassette) ES Cells

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