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Gene: Setd1b MGI:2652820

Gene Summary

Name:

SET domain containing 1B

Synonyms:

KMT2G

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased total body fat amount	Setd1b^{tm1.2(IMPC)Wtsi}	HET	Early adult	1.03×10^-13
increased bone mineral density	Setd1b^{tm1.2(IMPC)Wtsi}	HET	Early adult	2.79×10^-06
decreased circulating HDL cholesterol level	Setd1b^{tm1.2(IMPC)Wtsi}	HET	Early adult	1.69×10^-05
increased lean body mass	Setd1b^{tm1.2(IMPC)Wtsi}	HET	Early adult	5.60×10^-15
decreased circulating amylase level	Setd1b^{tm1.2(IMPC)Wtsi}	HET	Early adult	3.35×10^-08
decreased circulating cholesterol level	Setd1b^{tm1.2(IMPC)Wtsi}	HET	Early adult	1.17×10^-05
decreased circulating triglyceride level	Setd1b^{tm1.2(IMPC)Wtsi}	HET	Early adult	9.10×10^-05

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.

Human diseases associated with Setd1b (1 diseases)
Human diseases predicted to be associated with Setd1b (155 diseases)

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	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)	Setd1b^{^{tm1.2(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
Setd1b^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Targeting vectors, ES Cells
Setd1b^{tm1.2(IMPC)Wtsi}	Reporter-tagged deletion allele (post Flp, with no reporter and selection cassette)	Mice
Setd1b^{tm1(IMPC)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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