Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
protein phosphatase 1, regulatory subunit 3B
Synonyms:
GL

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Ppp1r3b 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 Ppp1r3b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hypoglycemic coma, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Coma, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketoti... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Lethargy, Failure to thrive ORPHA:79283
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Hyperinsulinism Due To Insr Deficiency
Coma, Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fa... ORPHA:263458
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Hypoglycemia, Leucine-Induced
Coma, Hyperinsulinemic hypoglycemia, Ataxia, Hypoglycemia, Drowsiness OMIM:240800
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Lethargy, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Hypogly... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:276575
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Homocystinuria Without Methylmalonic Aciduria
Failure to thrive, Lethargy, Ataxia ORPHA:622
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
3-Methylglutaconic Aciduria Type 1
Coma, Dystonia, Hypoglycemia, Progressive cerebellar ataxia, Failure to thrive ORPHA:67046
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Hyperinsulinism Due To Glucokinase Deficiency
Coma, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II di... ORPHA:79299
Short Stature Due To Ghsr Deficiency
Decreased body weight, Abnormality of body weight, Hypoglycemia ORPHA:314811
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Ataxia, Hypoglycemia, Dystonia OMIM:616113
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Dystonia, Lethargy, Failure to thrive ORPHA:26792
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Failure to thrive ORPHA:2089
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia OMIM:617829
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Lethargy, Failure to thrive ORPHA:26
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Carnitine Deficiency, Systemic Primary
Coma, Lethargy, Excessive daytime somnolence, Impaired gluconeogenesis, Hypoglycemia, Confusion, ... OMIM:212140
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia, Glucose intolerance OMIM:147630
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Ataxia, Confusion, Paroxysmal lethargy OMIM:606777
Glycerol Kinase Deficiency
Cryptorchidism, Coma, Lethargy, Hypoglycemia, Small for gestational age, Loss of consciousness OMIM:307030
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy, Ataxia, Hypoglycemia OMIM:246900
N-Acetylglutamate Synthase Deficiency
Confusion, Coma, Lethargy, Failure to thrive OMIM:237310
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Lethargy, Ataxia OMIM:618224
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Ataxia, Bradykinesia OMIM:618683
Insulinoma
Coma, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Nonket... ORPHA:97279
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Failure to thrive, Hyperactivity OMIM:274270
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Failure to thrive OMIM:618228
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypoglycemia OMIM:610006
Hemochromatosis Type 2
Hypogonadism, Diabetes mellitus, Lethargy ORPHA:79230
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance OMIM:145750
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Lethargy OMIM:613710
Growth Hormone Insensitivity Syndrome
Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitus, Hypoplasia of penis... ORPHA:181393
Vitamin B12-Responsive Methylmalonic Acidemia
Coma, Lethargy, Failure to thrive ORPHA:28
Multiple Mitochondrial Dysfunctions Syndrome 1
Lethargy, Failure to thrive OMIM:605711
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Coma, Lethargy, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyper... ORPHA:263455
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Gait imbalance, Hypoglycemia OMIM:618120
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss ORPHA:30925
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Coma, Failure to thrive, Lethargy, Hypoglycemia OMIM:210200
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Failure to thrive OMIM:201470
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Hypoglycemic coma, Hypoglycemia, Failure to thrive, Precocious puberty OMIM:614736
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Hypoglycemia, Ins... OMIM:262190
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Lethargy, Small for gestational age, Episodic ataxia OMIM:312170
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Gait ataxia, Ataxia, Bradykinesia, Oculogyric crisis, Generalized dystonia, Focal dysto... ORPHA:101150
Carnitine Palmitoyl Transferase 1A Deficiency
Coma, Loss of consciousness, Lethargy, Hypoglycemia ORPHA:156
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Central Diabetes Insipidus
Excessive daytime somnolence, Failure to thrive, Lethargy, Weight loss ORPHA:178029
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Small for gestational age OMIM:610498
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy OMIM:617105
Citrullinemia Type I
Coma, Lethargy, Ataxia, Torticollis, Failure to thrive, Loss of consciousness ORPHA:247525
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Gait disturbance, Lethargy, Failure to thrive OMIM:236270
Pyruvate Dehydrogenase E3 Deficiency
Failure to thrive, Lethargy, Ataxia, Hypoglycemia ORPHA:2394
Hyperlysinuria With Hyperammonemia
Coma, Lethargy OMIM:238750
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Lethargy, Failure to thrive, Ataxia OMIM:618226
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Classic Glucose Transporter Type 1 Deficiency Syndrome
Confusion, Dystonia, Lethargy, Ataxia ORPHA:71277
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Ataxia, Failure to thrive, Decreased testicular size, Hypogonadism OMIM:201100
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Lujo Hemorrhagic Fever
Coma, Lethargy ORPHA:319213
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Failure to thrive, Hypoglycemia OMIM:610090
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy OMIM:232700
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Maple Syrup Urine Disease
Coma, Lethargy, Ataxia, Hypoglycemia OMIM:248600
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Coma, Delirium, Lethargy, Ataxia, Confusion, Drowsiness, Failure to thrive, Loss of consciousness ORPHA:927
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Coma, Lethargy, Ataxia, Hypoglycemia, Cachexia, Loss of consciousness ORPHA:42
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Ataxia OMIM:618225
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Attention deficit... ORPHA:35878
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Lethargy ORPHA:49827
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Hypoglycemia OMIM:619386
Classic Galactosemia
Cryptorchidism, Dystonia, Lethargy, Gait imbalance, Gait disturbance, Ataxia, Hypoglycemia, Prema... ORPHA:79239
Infantile Liver Failure Syndrome 2
Lethargy, Hypoglycemia OMIM:616483
Severe Canavan Disease
Inability to walk, Lethargy ORPHA:314911
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Lethargy, Azoospermia OMIM:602390
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Coma, Lethargy, Hypoglycemia OMIM:201450
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Failure to thrive, Small for gestational age, Hypoglycemia OMIM:614702
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Coma, Episodic ataxia, Lethargy, Ataxia, Failure to thrive OMIM:311250
Combined Oxidative Phosphorylation Deficiency 34
Hypogonadism, Failure to thrive, Hypoglycemia OMIM:617872
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
External genital hypoplasia, Small for gestational age, Hypoglycemia ORPHA:231147
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Attention deficit hyperactivity disorder, Obesity ORPHA:369873
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Lethargy OMIM:600649
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Difficulty walking, Gait disturbance, Leg dystonia, Oculog... ORPHA:255
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Gait disturbance, Lethargy, Failure to thrive, Ataxia OMIM:615838
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Lethargy, Coma OMIM:255120
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Coma, Failure to thrive, Lethargy, Ataxia OMIM:237300
Leukoencephalopathy With Vanishing White Matter
Gait disturbance, Lethargy, Premature ovarian insufficiency, Unsteady gait OMIM:603896
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy, Hypoglycemia OMIM:615751
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Decreased body weight, Hypoglycemia, Small for gestational age, Abnormal e... ORPHA:231140
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Cryptorchidism, Lethargy, Premature pubarche, Scrotal hypoplasia, External gen... ORPHA:398079
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Galactosemia
Cryptorchidism, Dystonia, Lethargy, Gait imbalance, Gait disturbance, Ataxia, Failure to thrive, ... ORPHA:352
Hypercalcemia, Infantile, 1
Failure to thrive, Lethargy, Weight loss OMIM:143880
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Coma, Dystonia, Lethargy, Failure to thrive ORPHA:79312
Fructose-1,6-Bisphosphatase Deficiency
Coma, Lethargy, Hypoglycemia OMIM:229700
Cirrhosis, Familial
Lethargy OMIM:215600
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hypoplasia of the uterus, Hyperinsulinemia OMIM:615363
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Coma, Failure to thrive, Lethargy, Hypoglycemia OMIM:210210
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Lethargy, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hypoketoti... ORPHA:71212
Central Neurocytoma
Coma, Lethargy, Ataxia ORPHA:73256
Cyclic Vomiting Syndrome
Attention deficit hyperactivity disorder, Lethargy, Ataxia OMIM:500007
Encephalopathy, Recurrent, Of Childhood
Athetosis, Lethargy, Truncal ataxia OMIM:130950
Glucocorticoid Deficiency 1
Coma, Recurrent hypoglycemia, Failure to thrive OMIM:202200
Propionic Acidemia
Coma, Dystonia, Lethargy, Hypoglycemia, Failure to thrive OMIM:606054
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy, Failure to thrive in infancy OMIM:619064
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Ataxia OMIM:614299
Holocarboxylase Synthetase Deficiency
Coma, Lethargy, Ataxia, Weight loss ORPHA:79242
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy ORPHA:6
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Confusion, Coma, Lethargy, Failure to thrive OMIM:238970
Idiopathic Intracranial Hypertension
Lethargy, Obesity ORPHA:238624
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Lethargy, Small for gestational age, Failure to thrive OMIM:609015
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Coma, Dystonia, Lethargy ORPHA:289916
Necrotizing Enterocolitis
Hyperglycemia, Lethargy, Small for gestational age, Abnormal glucose homeostasis ORPHA:391673
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Carnitine-Acylcarnitine Translocase Deficiency
Coma, Lethargy, Neonatal hypoglycemia, Hypoglycemia OMIM:212138
Susac Syndrome
Confusion, Lethargy, Gait ataxia ORPHA:838
2P21 Microdeletion Syndrome
Hypogonadism, Failure to thrive, Hypoglycemia ORPHA:163693
Symptomatic Form Of Hemochromatosis Type 1
Lethargy, Weight loss, Testicular atrophy, Hypogonadotropic hypogonadism, Hyperglycemia, Diabetes... ORPHA:465508
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Cryptorchidism, Lethargy, Premature pubarche, Scrotal hypoplasia, External gen... ORPHA:398069
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Failure to thrive OMIM:611590
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Multiple Carboxylase Deficiency
Coma, Lethargy, Ataxia ORPHA:148
Isovaleric Acidemia
Coma, Lethargy OMIM:243500
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Cushing Disease
Lethargy, Truncal obesity, Failure to thrive, Diabetes mellitus, Premature ovarian insufficiency ORPHA:96253
Dihydropyrimidinase Deficiency
Excessive daytime somnolence, Lethargy OMIM:222748
Mitochondrial Trifunctional Protein Deficiency
Coma, Lethargy, Hypoketotic hypoglycemia, Toe walking, Failure to thrive in infancy ORPHA:746
Citrullinemia Type Ii
Coma, Decreased body mass index, Delirium, Lethargy, Confusion, Drowsiness, Hyperactivity, Fluctu... ORPHA:247585
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Coma, Lethargy, Failure to thrive OMIM:251000
Ebola Hemorrhagic Fever
Coma, Lethargy ORPHA:319218
Methylcobalamin Deficiency Type Cble
Lethargy, Excessive daytime somnolence, Drowsiness, Failure to thrive, Loss of consciousness ORPHA:2169
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Lethargy OMIM:233910
Rift Valley Fever
Coma, Lethargy, Weight loss ORPHA:319251
Marburg Hemorrhagic Fever
Lethargy, Weight loss ORPHA:99826
Vitamin B12-Unresponsive Methylmalonic Acidemia
Coma, Lethargy, Ataxia ORPHA:27
Idiopathic Congenital Hypothyroidism
Lethargy ORPHA:95717
Myxedema
Lethargy OMIM:255900
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Lethargy, Coma ORPHA:159
Pyruvate Dehydrogenase Deficiency
Gait disturbance, Dystonia, Lethargy, Ataxia ORPHA:765
Typhoid
Coma, Lethargy, Ataxia ORPHA:99745
Solitary Fibrous Tumor/Hemangiopericytoma
Prostate cancer, Hypoglycemia, Uterine neoplasm, Hypoinsulinemia, Weight loss, Vaginal neoplasm, ... ORPHA:2126
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Isolated Complex I Deficiency
Lethargy, Ataxia, Hypoglycemia, Failure to thrive, Diabetes mellitus ORPHA:2609
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy OMIM:618232
Late-Onset Isolated Acth Deficiency
Lethargy, Hypoglycemia, Weight loss, Type I diabetes mellitus, Failure to thrive, Premature ovari... ORPHA:199299
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Coma, Dystonia, Lethargy, Gait ataxia, Craniofacial dystonia, Confusion OMIM:607483
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Lethargy OMIM:201475
Mpi-Cdg
Hypoglycemia ORPHA:79319
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Lethargy OMIM:614857
Ogden Syndrome
Cryptorchidism, Lethargy, Excessive daytime somnolence, Torticollis, Shuffling gait ORPHA:276432
Visceral Steatosis, Congenital
Coma, Lethargy, Hypoglycemia OMIM:228100
3-Hydroxy-3-Methylglutaric Aciduria
Coma, Lethargy, Nonketotic hypoglycemia, Hypoglycemic coma, Ataxia, Weight loss, Recurrent hypogl... ORPHA:20
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesity OMIM:600955
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Overweight, Hypoketotic hypoglycemia, Small for gestational age, Obesity ORPHA:26793
Staphylococcal Necrotizing Pneumonia
Confusion, Diabetes mellitus, Lethargy ORPHA:36238
Silver-Russell Syndrome Due To A Point Mutation
Cryptorchidism, Microphallus, Abnormality of the scrotum, Bifid scrotum, Hypoglycemia, Small for ... ORPHA:397590
Transcobalamin Ii Deficiency
Failure to thrive, Lethargy, Ataxia OMIM:275350
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Failur... ORPHA:79237
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Hypoglycemia, Ataxia, Hypoinsulinemia, Type II diabetes mellitus, Hypogonadotropic hypo... ORPHA:453533
Methylmalonic Aciduria, Cblb Type
Coma, Lethargy, Failure to thrive OMIM:251110
Citrullinemia, Classic
Coma, Failure to thrive, Lethargy, Ataxia OMIM:215700
Evans Syndrome
Lethargy ORPHA:1959
Mitochondrial Complex I Deficiency, Nuclear Type 1
Coma, Lethargy, Ataxia, Hypoglycemia, Failure to thrive OMIM:252010
Meningococcal Meningitis
Drowsiness, Lethargy, Reduced consciousness/confusion ORPHA:33475
Methylmalonic Aciduria, Cbla Type
Coma, Lethargy, Failure to thrive OMIM:251100
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia OMIM:617049
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Lethargy, Ataxia OMIM:618321
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Dystonia, Lethargy OMIM:277410
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Hereditary Fructose Intolerance
Coma, Lethargy, Reactive hypoglycemia ORPHA:469
Scrub Typhus
Lethargy, Reduced consciousness/confusion ORPHA:83317
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Diabetes mellitus, Hypoglycemia, Glycosuria OMIM:616026
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Overweight ORPHA:99832
Spinocerebellar Ataxia, X-Linked 3
Lethargy, Dysmetria OMIM:301790
Familial Thyroid Dyshormonogenesis
Lethargy ORPHA:95716
Autosomal Dominant Progressive External Ophthalmoplegia
Lethargy, Gait ataxia, Glucose intolerance, Gait disturbance, Ataxia, Bradykinesia, Failure to th... ORPHA:254892
Histiocytoid Cardiomyopathy
Lethargy, Hypoglycemia, Polycystic ovaries, Drowsiness, Failure to thrive, Loss of consciousness ORPHA:137675
Pituitary Stalk Interruption Syndrome
Cryptorchidism, Failure to thrive, Hypoglycemia, Hypoplasia of penis ORPHA:95496
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Oculogyric crisis, Torticollis, Limb dystonia, Athetosis OMIM:608643
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy, Failure to thrive OMIM:277380
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Lethargy OMIM:608836
Cholera
Loss of consciousness, Lethargy, Hypoglycemia ORPHA:173
Pseudo-Torch Syndrome 2
Lethargy OMIM:617397
Fructose Intolerance, Hereditary
Coma, Lethargy, Hypoglycemia, Glycosuria, Failure to thrive OMIM:229600
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Gait disturbance, Lethargy, Failure to thrive, Ataxia ORPHA:395
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Confusion, Delirium, Lethargy, Failure to thrive OMIM:277400
Holocarboxylase Synthetase Deficiency
Coma, Lethargy OMIM:253270
Familial Hypoaldosteronism
Lethargy, Failure to thrive ORPHA:427
Argininosuccinic Aciduria
Coma, Failure to thrive, Lethargy, Ataxia OMIM:207900
Dengue Fever
Lethargy ORPHA:99828
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy, Failure to thrive ORPHA:79284
Combined Oxidative Phosphorylation Deficiency 11
Lethargy OMIM:614922
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Lethargy, Macroorchidism, Attention deficit hyperactivity disorder ORPHA:90674
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Coma, Lethargy, Confusion, Progressive cerebellar ataxia, Spastic gait, Failure to thrive ORPHA:415
Medulloblastoma
Lethargy, Ataxia, Progressive cerebellar ataxia, Cerebellar ataxia associated with quadrupedal ga... ORPHA:616
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Delirium, Lethargy, Ataxia, Hypoglycemia, Failure to thrive ORPHA:79282
Lassa Fever
Lethargy ORPHA:99824
Posterior Urethral Valve
Urethral stenosis, Lethargy, Congenital posterior urethral valve ORPHA:93110
Encephalitis Lethargica
Coma, Lethargy ORPHA:83600
Kufor-Rakeb Syndrome
Lethargy, Difficulty walking, Gait disturbance, Blepharospasm, Bradykinesia, Confusion, Lingual d... ORPHA:306674
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Lethargy, Overweight, Hypoglycemia ORPHA:226307
Trichinellosis
Confusion, Excessive daytime somnolence, Reduced consciousness/confusion, Lethargy ORPHA:863
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Macroorchidism, Hypoglycemia, Abnormality of female external genitalia, Fe... ORPHA:90790
Biotinidase Deficiency
Lethargy, Ataxia OMIM:253260
Yellow Fever
Lethargy ORPHA:99829
Amoebiasis Due To Free-Living Amoebae
Coma, Lethargy, Ataxia, Confusion, Loss of consciousness ORPHA:68
Genetic Transient Congenital Hypothyroidism
Lethargy ORPHA:226316
Complete Atrioventricular Septal Defect
Lethargy, Failure to thrive ORPHA:1329
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy ORPHA:90673
Biotinidase Deficiency
Lethargy, Ataxia ORPHA:79241
Glycine Encephalopathy
Lethargy ORPHA:407
Pineoblastoma
Lethargy, Reduced consciousness/confusion ORPHA:251909
Semilobar Holoprosencephaly
Inability to walk, Lethargy, Failure to thrive, Limb dystonia, Attention deficit hyperactivity di... ORPHA:220386
Alobar Holoprosencephaly
Inability to walk, Lethargy, Failure to thrive, Limb dystonia, Attention deficit hyperactivity di... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Inability to walk, Lethargy, Failure to thrive, Limb dystonia, Attention deficit hyperactivity di... ORPHA:93926
Lobar Holoprosencephaly
Inability to walk, Lethargy, Failure to thrive, Limb dystonia, Attention deficit hyperactivity di... ORPHA:93924
Multiple Endocrine Neoplasia Type 1
Coma, Lethargy, Decreased vigilance, Weight loss, Confusion ORPHA:652
Blackfan-Diamond Anemia
Hypospadias, Lethargy, Small for gestational age ORPHA:124
Exercise-Induced Malignant Hyperthermia
Confusion, Delirium, Lethargy, Ataxia ORPHA:466650
Lysinuric Protein Intolerance
Coma, Lethargy, Failure to thrive ORPHA:470
Hydranencephaly
Lethargy ORPHA:2177
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy OMIM:218700
Eisenmenger Syndrome
Lethargy ORPHA:97214

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 Ppp1r3b

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 Ppp1r3b.

No publications found that use IMPC mice or data for Ppp1r3b.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ppp1r3btm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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