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

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 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
Insulin insensitivity, Reduced insulin like growth factor binding protein acid labile subunit con... OMIM:615961
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... OMIM:232700
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Short stature, Hypoglycemia ORPHA:366
Tuberculosis
Fever, Fatigue, Weight loss ORPHA:3389
Pituitary Hormone Deficiency, Combined, 4
Severe postnatal growth retardation, Pituitary dwarfism, Short stature, Hypoglycemia OMIM:262700
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Severe short stature, Hypoglycemia OMIM:223500
Short Stature Due To Partial Ghr Deficiency
Growth delay, Short stature, Hypoglycemia, Delayed puberty ORPHA:314802
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... OMIM:613027
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Isolated Growth Hormone Deficiency, Type Ia
Growth delay, Severe short stature, Hypoglycemia, Prolonged neonatal jaundice OMIM:262400
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Gr... OMIM:306000
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Growth dela... OMIM:620211
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Spontaneous Periodic Hypothermia
Fatigue, Hypothermia ORPHA:29822
Undifferentiated Pleomorphic Sarcoma
Fever, Fatigue, Weight loss ORPHA:2023
Neonatal Hemochromatosis
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase... ORPHA:446
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia, Growth delay, Neonatal death, Intrauterine growth retardation, Failure to thrive OMIM:245400
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinom... ORPHA:369
Glycogen Storage Disease Ixb
Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Growth delay, Hyperuricemia, Increased h... OMIM:261750
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Short stature, Hyperuricemia, Hypoglycemia ORPHA:364
Primary Erythromelalgia
Hypothermia ORPHA:90026
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... OMIM:615158
Riboflavin Deficiency
Hypothermia OMIM:615026
Coenzyme Q10 Deficiency, Primary, 5
Intrauterine growth retardation, Hypothermia OMIM:614654
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Incr... ORPHA:293964
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ... OMIM:232400
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Short stature, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, P... ORPHA:2089
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Elevated c... OMIM:615160
Idiopathic Congenital Hypothyroidism
Hypothermia ORPHA:95717
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Growth delay, Hypothermia ORPHA:168593
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia, Large for gestational age ORPHA:226313
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea... OMIM:619048
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Menkes Disease
Intrauterine growth retardation, Short stature, Hypothermia OMIM:309400
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Abnormality of temperature regulation, Short stature, Hypothermia, Obesity OMIM:618493
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia OMIM:614498
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Growth delay, Sudden death, Hypothermia OMIM:608800
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia, Elevated cir... OMIM:618838
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Hypothermia, Overweight, Obesity, Pain ORPHA:26793
Timothy Syndrome
Sudden death, Hypothermia OMIM:601005
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Intrauterine growth retardation, Small for gestational age, Hypothermia OMIM:618775
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia ORPHA:664
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypoglycemic seizure... ORPHA:199296
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperammonemia ORPHA:35
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Fatigue, Hypothermia, Weight loss ORPHA:20
Familial Thyroid Dyshormonogenesis
Hypothermia ORPHA:95716
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Elevated circulating creatinine concentration, Increased blood urea n... OMIM:617872
Meningococcal Meningitis
Fever, Hypothermia ORPHA:33475
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism, Fever, Failure to thrive, Hypothermia ORPHA:255210
Isolated Thyroid-Stimulating Hormone Deficiency
Fatigue, Failure to thrive, Growth delay, Hypothermia ORPHA:90674
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Short stature ORPHA:31
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ... OMIM:261680
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... ORPHA:556037
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Short stature, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic keto... OMIM:262190
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Postnatal growth ret... OMIM:617093
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Growth delay, Failure to thrive, Hypothermia OMIM:251880
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hypothermia OMIM:618329
Dopamine Beta-Hydroxylase Deficiency
Fatigue, Chest pain, Hypothermia ORPHA:230
Congenital Enterovirus Infection
Fever, Hypothermia ORPHA:292
Alexander Disease
Sudden cardiac death, Hypothermia, Bowel incontinence, Recurrent singultus, Failure to thrive ORPHA:58
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, ... ORPHA:79303
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... ORPHA:556030
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... ORPHA:79240
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:617049
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Short stature, Hypo... OMIM:616026
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure ORPHA:156
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia OMIM:616483
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... ORPHA:264580
Neuroleptic Malignant Syndrome
Fever, Fatigue, Rigors, Urinary incontinence, Hypothermia 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
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Growth delay, Intrauterine growth retardation, Failure to thrive, Hypothermia ORPHA:79282
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinom... OMIM:232200
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Growth delay, Failure to thrive, Hypothermia ORPHA:17
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Fatigue, Pituitary dwarfism, Hypothermia, Overweight, Growth delay ORPHA:226307
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Adult-Onset Autosomal Dominant Leukodystrophy
Temperature instability, Myalgia, Hypothermia ORPHA:99027
Genetic Transient Congenital Hypothyroidism
Hypothermia ORPHA:226316
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Postna... OMIM:227810
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive OMIM:251110
Polyendocrine-Polyneuropathy Syndrome
Short stature, Elevated hemoglobin A1c, Hypoglycemia, Postnatal growth retardation, Type I diabet... OMIM:616113
Tbck-Related Intellectual Disability Syndrome
Hypothermia ORPHA:488632
Klatskin Tumor
Fever, Abdominal pain, Fatigue, Weight loss ORPHA:99978
Ethylene Glycol Poisoning
Flank pain, Hypothermia ORPHA:31826
Menkes Disease
Fatigue, Intrauterine growth retardation, Hypothermia ORPHA:565
Aromatic L-Amino Acid Decarboxylase Deficiency
Temperature instability, Intermittent hypothermia OMIM:608643
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Conjugated hyperbilirubinemia, Mic... OMIM:617156
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia ORPHA:90673
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive OMIM:251100
Orthostatic Hypotension 1
Intermittent hypothermia OMIM:223360
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Short stature, Pancreatic fibrosis, Hypoglycemia, He... OMIM:232220
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Fever, Short stature, Hypothermia, Obesity, Delayed puberty ORPHA:293987
Marburg Hemorrhagic Fever
Fever, Back pain, Hypothermia, Abdominal pain, Arthralgia, Myalgia, Chills ORPHA:99826
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity OMIM:277410
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Short stature, Hyperbilirubinemia, Hypoglycemia OMIM:613986
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive OMIM:277400
Sarcoidosis
Fever, Fatigue, Hypothermia, Weight loss, Chest pain ORPHA:797
Fumarase Deficiency
Failure to thrive, Decreased fumarate hydratase activity OMIM:606812
Friedreich Ataxia
Decreased pyruvate carboxylase activity OMIM:229300
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
Hypothermia, Growth delay, Unexplained fevers, Tongue pain, Recurrent fever ORPHA:642
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Short stature, Recurrent singultus, Hypothermia ORPHA:438213
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hepatocellular carcinoma, Hyperlipidemia, Xanth... OMIM:232240
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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