Gene Summary

Name:
adhesion G protein-coupled receptor B1
Synonyms:
B830018M07Rik,  Bai1

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 leukocyte cell number Adgrb1tm2a(EUCOMM)Wtsi HET Early adult 9.94×10-07
increased circulating insulin level Adgrb1tm2a(EUCOMM)Wtsi HOM Early adult 8.98×10-06
abnormal response to new environment Adgrb1tm2a(EUCOMM)Wtsi HOM Early adult 7.34×10-05
decreased circulating serum albumin level Adgrb1tm2a(EUCOMM)Wtsi HOM Early adult 1.24×10-06
increased circulating chloride level Adgrb1tm2a(EUCOMM)Wtsi HOM Early adult 4.98×10-06

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.

X-ray

XRay Images Skull Dorso Ventral Orientation

27 Images

X-ray

XRay Images Skull Lateral Orientation

29 Images

X-ray

XRay Images Whole Body Lateral Orientation

28 Images

X-ray

XRay Images Whole Body Dorso Ventral

29 Images

Anti-nuclear antibody assay

Images

12 Images

X-ray

XRay Images Forepaw

28 Images

DSS Histology

Images

10 Images

Eye Morphology

Images Slit Lamp

2 Images

Ear epidermis immunophenotyping

Images

12 Images

Human diseases caused by Adgrb1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Adgrb1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 40
Lymphopenia OMIM:616433
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia OMIM:606762
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614495
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614496
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hypoglycemia, Leucine-Induced
Irritability, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Abnormal cir... ORPHA:171706
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Decreased circulating free fatty acid level, Increased C-peptide level, Exc... ORPHA:324575
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Hypoketotic hypoglycemia, ... ORPHA:293964
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Increased C-peptide level, Excessive insulin respons... ORPHA:276580
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Decreased circulating free fatty acid level, Fasting hypoglycemia, Increased C-peptide level, Exc... ORPHA:276575
Obesity Due To Sim1 Deficiency
Glucose intolerance, Cognitive impairment, Memory impairment, Hyperinsulinemia ORPHA:369873
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Aggressive behavior ORPHA:329249
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia ORPHA:71529
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Hypoalbuminemia OMIM:617156
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Decreased circulating free fatty acid level, Neonatal hypoglycemia, Increased C-peptide level, Mu... ORPHA:79644
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration OMIM:246700
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Insulin-... ORPHA:179494
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cognitive impairment, Hypercholesterolemia, Dementia, Mental deterioration, Hypoalbuminemia OMIM:208920
Hyperinsulinism Due To Ucp2 Deficiency
Decreased circulating free fatty acid level, Increased C-peptide level, Excessive insulin respons... ORPHA:276556
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus... ORPHA:280356
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Mental deterioration, Hypoalbuminemia, Hyper... OMIM:617575
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Anxiety, Recurrent hypoglycemia, Pituitary prolactin c... ORPHA:97279
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Alg6-Cdg
Puberty and gonadal disorders, Increased circulating androgen concentration, Hypoalbuminemia, Dec... ORPHA:79320
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Hyperactive renin-angiotensin system, Hyperaldosteronism OMIM:214700
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, Ab... ORPHA:2298
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Hyperinsulinemia, Hyperuricemia, Insulin-resistant diabetes mellitus, Hypertr... OMIM:604367
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Galloway-Mowat Syndrome 6
Hypothyroidism, Decreased response to growth hormone stimulation test, Hypoalbuminemia OMIM:618347
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia OMIM:616033
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Insulin resistance, Hyperinsulinemia ORPHA:79084
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:615285
Acute Erythroid Leukemia
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia ORPHA:318
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Central adrenal insufficiency, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Central adrenal insufficiency, ... ORPHA:71526
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Memory impairment, Hypercholesterolemia, Elevated plasma citrull... ORPHA:247585
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hyperinsulinemia, Psychomotor deterioration, Hypercholesterolemi... ORPHA:79237
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Hypophosphatemic ricke... ORPHA:263455
Mody
Glycosuria, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Abnormal insulin level, E... ORPHA:552
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypoalbuminemia, Hypertriglyceridemia, Hypothyroidism OMIM:619013
Nephrotic Syndrome, Type 1
Hypothyroidism, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Severe Neurodegenerative Syndrome With Lipodystrophy
Cognitive impairment, Insulin resistance, Hyperinsulinemia, Progressive psychomotor deterioration... ORPHA:363400
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Irritability, Increa... OMIM:267700
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Hypoalbuminemia ORPHA:656
Congenital Disorder Of Glycosylation, Type Ih
Hypothyroidism, Hypoalbuminemia OMIM:608104
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria OMIM:613090
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Hyperinsulinemia ORPHA:791
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Transient neonatal diabetes mellitus, Maternal diabetes, M... ORPHA:99886
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Wolcott-Rallison Syndrome
Hypothyroidism, Hyponatremia, Central hypothyroidism, Hyperbilirubinemia, Neonatal insulin-depend... ORPHA:1667
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Irritability, Hypert... OMIM:603553
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria OMIM:602522
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormality of the parathyroid g... ORPHA:1227
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hypergonadotropic hypogonadism, Hyperinsulinemia ORPHA:3085
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... ORPHA:158061
Congenital Generalized Lipodystrophy
Increased C-peptide level, Precocious puberty in females, Insulin resistance, Hyperinsulinemia, H... ORPHA:528
Hepatoportal Sclerosis
Cognitive impairment, Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Increased C-peptide level, Neonatal hypoglycemia, Decreased plasma carniti... ORPHA:71212
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Hypermethioninemia, Elevated circulating creatine kinase concentration, Abno... ORPHA:88618
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Leishmaniasis
Hypoalbuminemia ORPHA:507
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Progressive neurologic deterioration, Hyperalaninemia, Hypoalbuminemia OMIM:618329
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Diarrhea 10, Protein-Losing Enteropathy Type
Hypothyroidism, Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Increased circulating progesterone, Hypogona... ORPHA:90794
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia, Irritability ORPHA:292
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Bartter Syndrome Type 4
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level, Emotional lability, ... ORPHA:89938
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Decreased serum iron, Anxiety, Decreased plasma carnitine, Hypoalbuminemia,... ORPHA:89842
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Hypercalcemia, Hypochloremia, Increased circulating renin level, Increased serum pro... OMIM:601678
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Neonatal hypoglycemia, Hypoglycemia, Hypoalbu... OMIM:619055
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypomagnesemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Aicardi-Goutieres Syndrome 9
Irritability, Self-mutilation, Hypoalbuminemia, Hypothyroidism OMIM:619487
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Insulin-resistant diabetes mellitus, ... ORPHA:2457
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Absence of pubertal development, Gl... ORPHA:785
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Abnormal blood ion concentration, Hypocalcemia, Hyperthyroidism, Thyroiditis, Hyp... ORPHA:37042
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypoalbuminemia, Hypertriglyceridemia ORPHA:540
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Alstrom Syndrome
Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hyperuricem... OMIM:203800
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Glucose intolerance, Hyper... OMIM:608612
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Hypergonadotropic hypogonadism, Hypoalbuminemia, Hypothyroidism OMIM:212065
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Precocious puberty, Po... OMIM:246200
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Hepatocellular Carcinoma
Hypokalemia, Hypoglycemia, Hyponatremia, Hypercalcemia, Emotional lability, Hyperbilirubinemia, H... ORPHA:88673
Trichohepatoenteric Syndrome 1
Cognitive impairment, Hypermethioninemia, Abnormality of iron homeostasis, Hypoalbuminemia, Incre... OMIM:222470
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Calcinosis, Hyperglycemia,... OMIM:248370
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypokalemia, Increased C-peptide level, Hypothyroidism, Fasting hypoglycem... ORPHA:769
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia OMIM:617303
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Increased circulating renin level, ... OMIM:241200
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Abnormality of the thyroid gland, Conjugated hyperbilir... ORPHA:186
Alg12-Cdg
Hyponatremia, Recurrent hypoglycemia, Decreased serum insulin-like growth factor 1, Hypoalbuminem... ORPHA:79324
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperlipidemia, Hyperinsulinemia, Delayed puberty, Decreased serum testosterone c... ORPHA:3464
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Abetalipoproteinemia
Hypothyroidism, Hypotriglyceridemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia,... ORPHA:14
Acquired Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Abnormal circulating lipid concentration, Insulin-resistant... ORPHA:79086
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Insulin resistance, Hypertriglyceridemia, Hyp... OMIM:613327
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Thyroid lymphangiectasia, Hypoalbuminemia OMIM:235510
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Hypoalbuminemia, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hypercholesterolemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia... OMIM:151660
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Marburg Hemorrhagic Fever
Hypokalemia, Hypoglycemia, Elevated circulating creatinine concentration, Hyperamylasemia, Aggres... ORPHA:99826
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Prader-Willi Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Hyperinsulinemia, Self-injurious behavior, ... OMIM:176270
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia ORPHA:505248
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Reduced C-peptide level, Hypoinsu... ORPHA:2126
Primary Sclerosing Cholangitis
Thyroiditis, Type I diabetes mellitus, Hypoalbuminemia ORPHA:171
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoglycemia, Hypoalbuminemia OMIM:613658
Leprechaunism
Hypokalemia, Fasting hypoglycemia, Insulin resistance, Central hypothyroidism, Increased circulat... ORPHA:508
Steinert Myotonic Dystrophy
Cognitive impairment, Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Abnormality of ... ORPHA:273
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Decreased serum leptin, Insulin-resistant diabetes mellitus at puberty, Hypertr... OMIM:608594
Atypical Werner Syndrome
Glycosuria, Hyperinsulinemia, Delayed puberty, Insulin-resistant diabetes mellitus, Fasting hyper... ORPHA:79474
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Decreased serum leptin, Insulin-resistant diabetes mellitus at puberty, Hypertr... OMIM:269700
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Diab... OMIM:619534
Turner Syndrome
Hyperlipidemia, Hyperinsulinemia, Hashimoto thyroiditis, Anxiety, Thyroiditis, Glucose intoleranc... ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperlipidemia, Hyperinsulinemia, Hashimoto thyroiditis, Anxiety, Thyroiditis, Glucose intoleranc... ORPHA:99413
Mosaic Monosomy X
Hyperlipidemia, Hyperinsulinemia, Hashimoto thyroiditis, Anxiety, Thyroiditis, Glucose intoleranc... ORPHA:99228
Monosomy X
Hyperlipidemia, Hyperinsulinemia, Hashimoto thyroiditis, Anxiety, Thyroiditis, Glucose intoleranc... ORPHA:99226
Tenorio Syndrome
Anxiety, Hypoglycemia, Hypoinsulinemia OMIM:616260
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:619381
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Pmm2-Cdg
Hypogonadotropic hypogonadism, Insulin resistance, Hyperinsulinemia, Elevated circulating growth ... ORPHA:79318
Alström Syndrome
Cognitive impairment, Hyperlipidemia, Precocious puberty in females, Hyperinsulinemia, Insulin re... ORPHA:64
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968

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 Adgrb1

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 Adgrb1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Adgrb1tm2a(EUCOMM)Wtsi PMC5638796
Molecular characterization of mutant mouse strains generated from the EUCOMM/KOMP-CSD ES cell resource. Mammalian genome : official journal of the International Mammalian Genome Society (August 2013) Adgrb1tm2a(EUCOMM)Wtsi PMC3745610

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MGI Allele Allele Type Produced
Adgrb1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Adgrb1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, ES Cells
Adgrb1tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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