banner
Genes Phenotypes Help, News, Blog

Gene: Ppp1r3b MGI:2177268

Log in to follow
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

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • 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.

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 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... ORPHA:324575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Fasting hypoglycemia, Hyperinsuli... ORPHA:276608
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive ORPHA:79283
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hy... ORPHA:276580
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Decreased body weight ORPHA:314811
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Lethargy, Failure to thrive ORPHA:2089
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Failure to thrive ORPHA:622
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Failure to thrive, Ketotic hypoglycemia ORPHA:26792
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperin... ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... ORPHA:276556
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance OMIM:307500
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Riboflavin Deficiency
Lethargy, Hypoglycemia OMIM:615026
Methylmalonic Acidemia With Homocystinuria
Lethargy, Failure to thrive ORPHA:26
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hypertriglyceridemia, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypoglycemia OMIM:610006
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia OMIM:619324
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Developmental And Epileptic Encephalopathy 40
Lethargy, Small for gestational age OMIM:617065
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia OMIM:145750
Hjv Or Hamp-Related Hemochromatosis
Lethargy, Diabetes mellitus, Hypogonadism ORPHA:79230
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Failure to thrive OMIM:274270
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss ORPHA:30925
Central Diabetes Insipidus
Lethargy, Failure to thrive, Weight loss, Depression ORPHA:178029
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy, Hypoglycemia OMIM:246900
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Incre... ORPHA:97279
N-Acetylglutamate Synthase Deficiency
Lethargy, Failure to thrive OMIM:237310
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia ORPHA:67046
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Failure to thrive ORPHA:28
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hyperinsulinemia, Increased body weight, Fasting hypoglycemia, Glycosu... ORPHA:263455
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Pyruvate Dehydrogenase E3 Deficiency
Lethargy, Failure to thrive, Hypoglycemia ORPHA:2394
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy OMIM:618224
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Hypoglycemia OMIM:618120
Infantile Liver Failure Syndrome 2
Lethargy, Hypoglycemia OMIM:616483
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Small for gestational age OMIM:610498
Glycine Encephalopathy 1
Lethargy OMIM:605899
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy OMIM:232700
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Diabetes mellitus ORPHA:49827
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Hypoketotic hypoglycemia OMIM:600649
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Hypoglycemia OMIM:619386
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Failure to thrive, Hypoglycemia OMIM:210200
Hypercalcemia, Infantile, 1
Lethargy, Failure to thrive, Weight loss OMIM:143880
Hemochromatosis, Type 2A
Azoospermia, Hypogonadotropic hypogonadism, Lethargy OMIM:602390
Carnitine Deficiency, Systemic Primary
Impaired gluconeogenesis, Lethargy, Recurrent hypoglycemia, Failure to thrive OMIM:212140
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy, Failure to thrive OMIM:613561
Idiopathic Intracranial Hypertension
Lethargy, Obesity, Depression ORPHA:238624
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Truncal obesity, Neona... ORPHA:293964
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Hypoglycemia, External genital hypoplasia ORPHA:231147
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy, Hypoglycemia OMIM:201450
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Failure to thrive OMIM:618228
Severe Canavan Disease
Lethargy ORPHA:314911
Glutaric Acidemia Type 3
Lethargy, Failure to thrive ORPHA:35706
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy, Hypoglycemia ORPHA:156
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precocious puberty, Cr... ORPHA:398079
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy, Failure to thrive in infancy OMIM:619064
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Hypoglycemia, Cachexia ORPHA:42
Pontocerebellar Hypoplasia, Type 6
Lethargy, Failure to thrive OMIM:611523
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy ORPHA:71277
Maple Syrup Urine Disease
Lethargy, Hypoglycemia OMIM:248600
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy, Failure to thrive OMIM:236270
Classic Galactosemia
Cryptorchidism, Hypoglycemia, Lethargy, Depression ORPHA:79239
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy, Failure to thrive OMIM:250620
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy, Small for gestational age OMIM:312170
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lethargy, Failure to thrive OMIM:618226
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy, Failure to thrive, Small for gestational age, Hypoketotic hypoglycemia OMIM:609015
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy ORPHA:6
Fructose-1,6-Bisphosphatase Deficiency
Lethargy, Hypoglycemia OMIM:229700
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy, Failure to thrive, Hypoglycemia OMIM:251000
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Lethargy, Failure... ORPHA:71212
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Hypospadias, Hypoglycemia, Small for gestational age, Cryptorchidism, Lethargy, Mi... OMIM:607143
Propionic Acidemia
Lethargy, Failure to thrive, Hypoglycemia OMIM:606054
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Weight loss, Apathy, Lethargy, Hyperglycemia, T... ORPHA:465508
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Dihydropyrimidinase Deficiency
Lethargy OMIM:222748
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy OMIM:618225
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Necrotizing Enterocolitis
Lethargy, Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis ORPHA:391673
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Hypoketotic hypoglycemia OMIM:255120
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Lethargy, Failure to thrive ORPHA:79312
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Citrullinemia Type I
Lethargy, Failure to thrive ORPHA:247525
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Hypoglycemia, Neonatal hypoglycemia OMIM:212138
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy, Failure to thrive OMIM:237300
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Failure to thrive OMIM:611590
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Precocious puberty, Cryptorchidism, Hypoplastic labia... ORPHA:398069
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy, Failure to thrive, Hypoglycemia OMIM:210210
Renal Hypoplasia, Bilateral
Small for gestational age, Cryptorchidism, Glycosuria, Lethargy, Failure to thrive ORPHA:97362
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Failure to thrive, Lethargy OMIM:614857
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy, Failure to thrive OMIM:238970
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Susac Syndrome
Lethargy, Apathy ORPHA:838
Cyclic Vomiting Syndrome
Lethargy OMIM:500007
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy, Failure to thrive ORPHA:927
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy OMIM:233910
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Lethargy OMIM:201475
Holocarboxylase Synthetase Deficiency
Lethargy, Weight loss ORPHA:79242
Multifocal Atrial Tachycardia
Cryptorchidism, Lethargy ORPHA:3282
Idiopathic Congenital Hypothyroidism
Lethargy ORPHA:95717
Proprotein Convertase 1/3 Deficiency
Obesity, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hypoglycemia OMIM:600955
Isolated Complex I Deficiency
Lethargy, Failure to thrive, Diabetes mellitus, Hypoglycemia ORPHA:2609
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Overweight, Obesity, Lethargy, Hypoketotic hypoglycemia ORPHA:26793
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy, Failure to thrive OMIM:615838
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Fasting hypoglycemia, Hypoketotic hypoglycemia ORPHA:159
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Failure to thrive, Hypogonadism, Decreased testicular size OMIM:201100
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Lethargy ORPHA:289916
Isovaleric Acidemia
Lethargy OMIM:243500
Isolated Atp Synthase Deficiency
Lethargy, Hypogonadism ORPHA:254913
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy OMIM:618232
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Failure to thrive in infancy, Hypoketotic hypoglycemia ORPHA:746
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Weight loss, Type I diabetes mellitus, Lethargy, Failure to thrive ORPHA:199299
Evans Syndrome
Lethargy ORPHA:1959
Staphylococcal Necrotizing Pneumonia
Lethargy, Diabetes mellitus ORPHA:36238
Multiple Mitochondrial Dysfunctions Syndrome 1
Lethargy, Failure to thrive OMIM:605711
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Cryptorchidism, Failure to thrive, Hypoglycemia OMIM:614736
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Weight loss, Recurrent hypoglycemia, Apathy, Lethargy ORPHA:20
Glycerol Kinase Deficiency
Small for gestational age, Cryptorchidism, Hypoglycemia, Lethargy OMIM:307030
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy ORPHA:27
Methylcobalamin Deficiency Type Cble
Lethargy, Failure to thrive ORPHA:2169
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Lethargy, Depression ORPHA:99832
Typhoid
Lethargy ORPHA:99745
Pyruvate Dehydrogenase Deficiency
Lethargy ORPHA:765
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy OMIM:614299
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Lethargy, Failure to thrive, Hypoglycemia OMIM:617156
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Autosomal Dominant Progressive External Ophthalmoplegia
Bipolar affective disorder, Diabetes mellitus, Depression, Bradykinesia, Glucose intolerance, Let... ORPHA:254892
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Insulin resistance, Fa... ORPHA:2298
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Failure to thrive OMIM:201470
Solitary Fibrous Tumor
Hypoglycemia, Vaginal neoplasm, Weight loss, Recurrent hypoglycemia, Prostate cancer, Hypoinsulin... ORPHA:2126
Familial Thyroid Dyshormonogenesis
Lethargy ORPHA:95716
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Lethargy, Hypoglycemia OMIM:608836
Pituitary Stalk Interruption Syndrome
Cryptorchidism, Hypoplasia of penis, Failure to thrive, Hypoglycemia ORPHA:95496
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Lethargy OMIM:604377
Ogden Syndrome
Cryptorchidism, Lethargy ORPHA:276432
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy, Hypoglycemia OMIM:615751
Methylmalonic Aciduria, Cblb Type
Lethargy, Failure to thrive OMIM:251110
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy, Failure to thrive, Small for gestational age OMIM:277380
Transcobalamin Ii Deficiency
Lethargy, Failure to thrive OMIM:275350
Familial Hypoaldosteronism
Lethargy, Failure to thrive ORPHA:427
Citrullinemia Type Ii
Lethargy, Mania, Decreased body mass index ORPHA:247585
Cholera
Lethargy, Hypoglycemia ORPHA:173
Hereditary Fructose Intolerance
Lethargy, Reactive hypoglycemia ORPHA:469
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy, Failure to thrive ORPHA:79284
Dengue Fever
Lethargy ORPHA:99828
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Lethargy, Failure to thrive, Depression ORPHA:90674
Meningococcal Meningitis
Lethargy ORPHA:33475
Scrub Typhus
Lethargy ORPHA:83317
Pseudo-Torch Syndrome 2
Lethargy OMIM:617397
Pearson Marrow-Pancreas Syndrome
Type I diabetes mellitus, Lethargy, Failure to thrive, Small for gestational age OMIM:557000
Citrullinemia, Classic
Lethargy, Failure to thrive OMIM:215700
Histiocytoid Cardiomyopathy
Lethargy, Failure to thrive, Hypoglycemia, Polycystic ovaries ORPHA:137675
Combined Oxidative Phosphorylation Deficiency 11
Lethargy OMIM:614922
Methylmalonic Aciduria, Cbla Type
Lethargy, Failure to thrive OMIM:251100
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Small for gestational age, Cryptorchidism, Lethargy, Failure to thrive, Clitoral hyp... OMIM:614866
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy, Glandular hypospadias OMIM:620306
Mitochondrial Complex I Deficiency, Nuclear Type 1
Lethargy, Failure to thrive, Hypospadias, Hypoglycemia OMIM:252010
Fructose Intolerance, Hereditary
Lethargy, Failure to thrive, Hypoglycemia, Glycosuria OMIM:229600
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Lethargy OMIM:607483
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Failure to thrive ORPHA:395
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Lethargy, Failure to thrive OMIM:311250
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy, Failure to thrive, Hypoglycemia ORPHA:79282
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Lethargy OMIM:277410
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Lethargy, Failure to thrive OMIM:620233
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Diabetes mellitus, Hypoglycemia, Glycosuria OMIM:616026
Cirrhosis, Familial
Lethargy OMIM:215600
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Lethargy, Hypogonadotropic hypogonadism, Hypoglycemia ORPHA:226307
Holocarboxylase Synthetase Deficiency
Lethargy OMIM:253270
Argininosuccinic Aciduria
Lethargy, Failure to thrive OMIM:207900
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy, Failure to thrive OMIM:277400
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Lethargy OMIM:618321
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy OMIM:608643
Genetic Transient Congenital Hypothyroidism
Lethargy ORPHA:226316
Complete Atrioventricular Septal Defect
Lethargy, Failure to thrive ORPHA:1329
Encephalitis Lethargica
Lethargy ORPHA:83600
Ebola Hemorrhagic Fever
Lethargy ORPHA:319218
Biotinidase Deficiency
Lethargy OMIM:253260
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy, Failure to thrive ORPHA:415
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy ORPHA:90673
Trichinellosis
Lethargy, Apathy ORPHA:863
Medulloblastoma
Lethargy ORPHA:616
Posterior Urethral Valve
Lethargy ORPHA:93110
Biotinidase Deficiency
Lethargy ORPHA:79241
Glycine Encephalopathy
Lethargy ORPHA:407
Semilobar Holoprosencephaly
Lethargy, Failure to thrive, Apathy, Depression ORPHA:220386
Alobar Holoprosencephaly
Lethargy, Failure to thrive, Apathy, Depression ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Lethargy, Failure to thrive, Apathy, Depression ORPHA:93926
Lobar Holoprosencephaly
Lethargy, Failure to thrive, Apathy, Depression ORPHA:93924
Diamond-Blackfan Anemia
Small for gestational age, Lethargy, Hypospadias ORPHA:124
Marburg Hemorrhagic Fever
Orchitis, Lethargy, Hypoglycemia ORPHA:99826
Kufor-Rakeb Syndrome
Bradykinesia, Lethargy, Apathy ORPHA:306674
Amoebiasis Due To Free-Living Amoebae
Lethargy ORPHA:68
Lysinuric Protein Intolerance
Lethargy, Failure to thrive ORPHA:470
Hydranencephaly
Lethargy ORPHA:2177
Multiple Endocrine Neoplasia Type 1
Lethargy, Weight loss, Depression ORPHA:652
Pineoblastoma
Lethargy ORPHA:251909
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy OMIM:218700
Paroxysmal Nocturnal Hemoglobinuria
Lethargy, Glycosuria ORPHA:447
Exercise-Induced Malignant Hyperthermia
Lethargy ORPHA:466650
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

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter