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
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
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

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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
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
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Buschke-Ollendorff Syndrome
Connective tissue nevi, Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis, Failure to thrive, Increased bone mineral density OMIM:615198
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Keloids, Limitation of joint mobility, Abnormal pelvis bone o... ORPHA:166119
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Osteopenia OMIM:610539
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL ch... OMIM:616834
Melorheostosis
Atypical scarring of skin, Failure to thrive, Joint stiffness, Ectopic ossification in muscle tis... ORPHA:2485
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine concentration, Osteopetr... OMIM:620366
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone ORPHA:564003
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Steator... OMIM:266510
Mueller-Weiss Syndrome
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... ORPHA:566943
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Failure to thrive, Hypocholesterolemia, Steatorrhea, Conjugated hyperbilirubinemia 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
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Squalene Synthase Deficiency
Elbow flexion contracture, Hypocholesterolemia, Failure to thrive in infancy, Knee flexion contra... OMIM:618156
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Intermediate Osteopetrosis
Cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, Abnormality of bone min... ORPHA:210110
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Lipodystrophy, Failure to thrive OMIM:608776
Potocki-Lupski Syndrome
Hypocholesterolemia, Small for gestational age, Failure to thrive OMIM:610883
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... OMIM:166600
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Pathologic fracture, Osteomyelitis, Hypocalcemia, Femur fracture, Osteopetrosi... OMIM:259700
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Failure to thrive, Increased bone mineral density, Hyperuricemia, ... OMIM:239000
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, Hypocalcemia,... ORPHA:94089
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia, Failure to thrive ORPHA:71
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... OMIM:144750
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Umbilical hernia, Increased bone mineral density, Decreased body weigh... OMIM:614856
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Generalized osteosclerosis, Arthritis, Ost... ORPHA:53
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Decreased circulating renin level OMIM:103900
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Abetalipoproteinemia, Decreased body weight, Elevated circulating creatine k... ORPHA:96180
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma... ORPHA:90650
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Osteopenia, Failure to thrive, Hypocholesterolemia, Abnormal subcutaneous fat ti... OMIM:212065
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Increased bone mineral density, Hypocalcemi... ORPHA:36913
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Limitation of joint mobility, Failure to thrive, Osteoarthritis of the distal... ORPHA:93284
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Majeed Syndrome
Failure to thrive, Osteomyelitis, Increased susceptibility to fractures, Synovitis, Cachexia, Wei... ORPHA:77297
Diastrophic Dysplasia
Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger ORPHA:628
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Small for gestational age, Increased bone mineral density OMIM:616943
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Abnormal dental enamel morpholog... ORPHA:1782
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Abetalipoproteinemia
Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnorma... ORPHA:14
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Delayed patellar ossification, Abnormal bone ossification ORPHA:163649
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Decreased body weight OMIM:617306
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Alg12-Cdg
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Hyponatremia, Abnormal bone ossification... ORPHA:79324
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... ORPHA:85188
Werner Syndrome
Chondrocalcinosis, Slender build, Joint stiffness, Lipodystrophy, Osteoporosis, Lipoatrophy, Incr... ORPHA:902
Apparent Mineralocorticoid Excess
Hypokalemia, Small for gestational age, Failure to thrive, Decreased circulating renin level OMIM:218030
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rick... ORPHA:289176
Camurati-Engelmann Disease
Slender build, Sclerosis of skull base, Reduced subcutaneous adipose tissue, Cortical thickening ... OMIM:131300
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Transient hypophosphatemia, Incr... OMIM:127000
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Increased bone mineral density, Enamel hypomineralization ORPHA:3352
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Osteopetrosis, Decreased osteoclas... OMIM:259710
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level OMIM:605115
Pycnodysostosis
Coronal craniosynostosis, Increased susceptibility to fractures, Joint hypermobility, Generalized... ORPHA:763
Desmosterolosis
Joint contracture of the hand, Abnormal circulating cholesterol concentration, Failure to thrive,... OMIM:602398
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Failure to thrive OMIM:615085
Apparent Mineralocorticoid Excess
Hypokalemia, Abnormality of circulating cortisol level, Failure to thrive, Decreased circulating ... ORPHA:320
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Hypokalemia, Decreased circulating renin level OMIM:613677
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Hyperbilirubinemia, Hypocalcemia, Osteopetrosis, Decreased osteoclast count... OMIM:259720
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper... ORPHA:2780
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... OMIM:112250
X-Linked Hypophosphatemia
Cellulitis, Limitation of joint mobility, Rickets, Hypophosphatemia, Generalized osteosclerosis, ... ORPHA:89936
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Craniofacial osteosclerosis, Increased skull ossification, Hypocalcemia, Osteopetrosis, Diaphysea... OMIM:618476
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Umbilical hernia, Joint stiffness, Inguinal hernia, Hip contracture... ORPHA:800
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel hypop... ORPHA:79444
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231632
Poems Syndrome
Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Lipodystrophy, Weight loss ORPHA:2905
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Increased bone mineral density, Massively thickened long bone ... ORPHA:1798
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Pseudohypoparathyroidism Type 1A
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel hypop... ORPHA:79443
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibility to fracture... OMIM:224300
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Failure to thrive OMIM:244450
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cortiso... ORPHA:231625
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Desmosterolosis
Increased bone mineral density, Osteopetrosis, Failure to thrive ORPHA:35107
Raine Syndrome
Hypophosphatemia, Enamel hypoplasia, Subperiosteal bone formation, Increased bone mineral density... OMIM:259775
Atypical Werner Syndrome
Chondrocalcinosis, Limitation of joint mobility, Failure to thrive, Sclerosis of hand bone, Gener... ORPHA:79474
Erdheim-Chester Disease
Osteomyelitis, Xanthelasma, Weight loss, Increased bone mineral density, Osteolysis ORPHA:35687
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Failure to thrive, Carpal synostosis, Camptodactyly of finger, Omphal... ORPHA:90652
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Trichothiodystrophy
Osteopenia, Umbilical hernia, Absence of subcutaneous fat, Multiple joint contractures, Enamel hy... ORPHA:33364
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal dental enamel m... ORPHA:2658
Gaucher Disease
Osteopenia, Increased circulating ferritin concentration, Osteolysis, Osteomyelitis, Pathologic f... ORPHA:355
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin l... ORPHA:231580
Dubowitz Syndrome
Hypocholesterolemia, Inguinal hernia OMIM:223370
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia ORPHA:2323
12Q14 Microdeletion Syndrome
Osteopoikilosis, Failure to thrive ORPHA:94063
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Primary hyperaldosteronism, Decreased circulating renin level OMIM:615474
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Hyperoxaluria OMIM:259900
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Epiphyseal stippling, Elevated circulati... OMIM:270400
Osteopetrosis, Autosomal Recessive 3
Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis OMIM:259730
Primary Hyperoxaluria
Recurrent fractures, Hyperoxaluria, Failure to thrive, Generalized osteosclerosis ORPHA:416
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Hypocalcemic seizures, Osteopetrosis OMIM:612301
Gaucher Disease Type 3
Increased bone mineral density, Increased susceptibility to fractures, Osteolysis ORPHA:77261
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Failure to thrive, Decreased circulating renin level, Hypokalemia, Decreased circulating cortisol... ORPHA:90793
Cleidocranial Dysplasia 1
Increased bone mineral density, Increased susceptibility to fractures, Enamel hypoplasia, Delayed... OMIM:119600
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Williams Syndrome
Synostosis of joints, Osteopenia, Abnormal circulating lipid concentration, Umbilical hernia, Abn... ORPHA:904
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating cortisol level, Decreased circulating renin level ORPHA:90795
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia, Osteopetrosis, Craniosynostosis, Reduced bone mineral density, Re... ORPHA:667
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral density OMIM:620558
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level OMIM:202010
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Hypocalcemia, Elevated circulating creatine kinase concentration, Osteopetrosi... ORPHA:2785
Sclerosteosis 1
Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero... OMIM:269500
Schinzel-Giedion Midface Retraction Syndrome
Thickened cortex of long bones, Sclerosis of skull base, Increased density of long bones, Failure... OMIM:269150
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Joint contracture of the hand, Carpal synostosis, Humeroradial synostosis, Decreased circulating ... OMIM:201750
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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
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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