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Gene: Pnpla8 MGI:1914702

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
patatin-like phospholipase domain containing 8
Synonyms:
iPLA2 gamma,  1200006O19Rik

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 Pnpla8 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Pnpla8 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mitochondrial Myopathy With Lactic Acidosis
Fatigue OMIM:251950

The table below shows human diseases predicted to be associated to Pnpla8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Acid-Labile Subunit Deficiency
Reduced insulin like growth factor binding protein acid labile subunit concentration, Insulin ins... OMIM:615961
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati... OMIM:232700
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypoglycemia, Hypertriglyceridemia ORPHA:366
Short Stature Due To Partial Ghr Deficiency
Short stature, Delayed puberty, Hypoglycemia, Growth delay ORPHA:314802
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Severe short stature, Intrauterine growth retardation, Hypoglycemia OMIM:223500
Pituitary Hormone Deficiency, Combined, 4
Short stature, Severe postnatal growth retardation, Hypoglycemia, Pituitary dwarfism OMIM:262700
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Postnatal growth retardation, Hypocalcemia OMIM:615361
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Isolated Growth Hormone Deficiency, Type Ia
Severe short stature, Prolonged neonatal jaundice, Growth delay, Hypoglycemia OMIM:262400
Hemochromatosis, Neonatal
Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Hypoglycemia, Increa... OMIM:231100
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati... OMIM:613027
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Shor... OMIM:620211
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Spontaneous Periodic Hypothermia
Fatigue, Hypothermia ORPHA:29822
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Neonatal Hemochromatosis
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat... ORPHA:446
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Intrauterine growth retardation, Hypothermia, Neonatal death, Growth delay OMIM:245400
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog... ORPHA:369
Primary Erythromelalgia
Hypothermia ORPHA:90026
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Shor... OMIM:261750
Riboflavin Deficiency
Hypothermia OMIM:615026
Coenzyme Q10 Deficiency, Primary, 5
Intrauterine growth retardation, Hypothermia OMIM:614654
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip... OMIM:232400
Idiopathic Congenital Hypothyroidism
Hypothermia ORPHA:95717
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Growth delay, Hypothermia ORPHA:168593
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Hypothermia ORPHA:226313
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen... OMIM:615160
N-Acetylglutamate Synthase Deficiency
Hypothermia, Failure to thrive OMIM:237310
Menkes Disease
Short stature, Intrauterine growth retardation, Hypothermia OMIM:309400
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Obesity, Hypothermia, Abnormality of temperature regulation, Short stature OMIM:618493
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Growth delay, Hypothermia, Sudden death OMIM:608800
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia OMIM:614498
Timothy Syndrome
Hypothermia, Sudden death OMIM:601005
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Obesity, Hypothermia, Pain, Overweight, Small for gestational age ORPHA:26793
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Intrauterine growth retardation, Hypoglycemia, Elevated cir... OMIM:618838
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia, Intrauterine growth retardation, Small for gestational age OMIM:618775
Sepsis In Premature Infants
Temperature instability, Fever, Hypothermia, Decreased body weight, Small for gestational age ORPHA:90051
Propionic Acidemia
Hepatomegaly, Hyperammonemia, Hypoglycemia ORPHA:35
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hyperammonemia, Hypoglycemia ORPHA:664
Meningococcal Meningitis
Fever, Hypothermia ORPHA:33475
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Hepatitis, Hyponatremia, Decreased circulating cortisol level, Prolonged n... ORPHA:199296
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Weight loss, Fatigue, Hypothermia ORPHA:20
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Hypothermia, Abnormality of Krebs cycle metabolism, Failure to thrive ORPHA:255210
Familial Thyroid Dyshormonogenesis
Hypothermia ORPHA:95716
Isolated Thyroid-Stimulating Hormone Deficiency
Hypothermia, Fatigue, Growth delay, Failure to thrive ORPHA:90674
Oxoglutaric Aciduria
Short stature, Abnormality of Krebs cycle metabolism ORPHA:31
Late-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating... ORPHA:556037
Mody
Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Glyc... ORPHA:552
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia, Failure to thrive OMIM:618329
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Hypoglycem... OMIM:617093
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia, Growth delay, Failure to thrive OMIM:251880
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low plasma citr... OMIM:261680
Dopamine Beta-Hydroxylase Deficiency
Chest pain, Fatigue, Hypothermia ORPHA:230
Congenital Enterovirus Infection
Fever, Hypothermia ORPHA:292
Early-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating... ORPHA:556030
Alexander Disease
Failure to thrive, Recurrent singultus, Hypothermia, Sudden cardiac death, Bowel incontinence ORPHA:58
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C... ORPHA:79303
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... ORPHA:79240
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ... OMIM:616026
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyp... OMIM:617049
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Decreased liver function, Intrauterine growth retardation, Elevated circulating cre... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Decreased liver function, Intrauterine growth retardation, Elevated circulating cre... OMIM:618839
Infantile Liver Failure Syndrome 2
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp... OMIM:616483
Neuroleptic Malignant Syndrome
Fever, Hypothermia, Rigors, Fatigue, Urinary incontinence ORPHA:94093
Carnitine-Acylcarnitine Translocase Deficiency
Hypothermia ORPHA:159
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemia OMIM:614736
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypothermia, Pituitary dwarfism, Fatigue, Overweight, Growth delay ORPHA:226307
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypothermia, Growth delay, Failure to thrive ORPHA:17
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypothermia, Intrauterine growth retardation, Growth delay, Failure to thrive ORPHA:79282
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi... OMIM:232200
Genetic Transient Congenital Hypothyroidism
Hypothermia ORPHA:226316
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Fanconi-Bickel Syndrome
Hypouricemia, Intrahepatic cholestasis, Postprandial hyperglycemia, Glycosuria, Postnatal growth ... OMIM:227810
Adult-Onset Autosomal Dominant Leukodystrophy
Temperature instability, Myalgia, Hypothermia ORPHA:99027
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia, Postnatal growth retardation, Short stature, Elevated hem... OMIM:616113
Tbck-Related Intellectual Disability Syndrome
Hypothermia ORPHA:488632
Klatskin Tumor
Abdominal pain, Weight loss, Fatigue, Fever ORPHA:99978
Menkes Disease
Intrauterine growth retardation, Fatigue, Hypothermia ORPHA:565
Ethylene Glycol Poisoning
Flank pain, Hypothermia ORPHA:31826
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia ORPHA:90673
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive OMIM:251110
Aromatic L-Amino Acid Decarboxylase Deficiency
Intermittent hypothermia, Temperature instability OMIM:608643
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive OMIM:251100
Orthostatic Hypotension 1
Intermittent hypothermia OMIM:223360
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Fever, Obesity, Hypothermia, Delayed puberty, Short stature ORPHA:293987
Marburg Hemorrhagic Fever
Fever, Myalgia, Hypothermia, Arthralgia, Abdominal pain, Chills, Back pain ORPHA:99826
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity OMIM:277410
Sarcoidosis
Fever, Chest pain, Hypothermia, Weight loss, Fatigue ORPHA:797
Fumarase Deficiency
Decreased fumarate hydratase activity, Failure to thrive OMIM:606812
Friedreich Ataxia
Decreased pyruvate carboxylase activity OMIM:229300
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity, Small for gestational age, Failure to thrive OMIM:277400
Hypothyroidism, Congenital, Nongoitrous, 2
Growth delay, Hypothermia OMIM:218700
Occipital Horn Syndrome
Hypothermia ORPHA:198
Mitochondrial Myopathy With Lactic Acidosis
Fatigue OMIM:251950
Hereditary Sensory And Autonomic Neuropathy Type 4
Unexplained fevers, Tongue pain, Recurrent fever, Hypothermia, Growth delay ORPHA:642
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Short stature, Hypothermia, Recurrent singultus ORPHA:438213
Friedreich Ataxia 2
Decreased pyruvate carboxylase activity OMIM:601992

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 Pnpla8

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 Pnpla8.

No publications found that use IMPC mice or data for Pnpla8.

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
Pnpla8tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Pnpla8tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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