Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
pancreatic lipase
Synonyms:
1810007A24Rik,  pancreatic triglyceride lipase,  PTL

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 Pnlip 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 Pnlip by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pancreatic Lipase Deficiency
Steatorrhea OMIM:614338

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology ORPHA:2398
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... OMIM:612526
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity, Delayed puberty ORPHA:140941
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Hypertriglyceridemia, Lipodystrophy, Increa... ORPHA:79085
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Loss of gluteal... OMIM:604367
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... OMIM:232700
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... ORPHA:181393
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Loss of gluteal subcutane... ORPHA:435660
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Lipoatrophy, Hepatomegaly, Diabetes mellitus, Insulin resistance,... ORPHA:79084
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... OMIM:617885
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Diarrhea, Vomiting, Decreased LDL cholesterol concentration, Hypo... OMIM:246700
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... OMIM:608600
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Hepatic f... OMIM:607765
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... ORPHA:363400
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Increased C-pep... ORPHA:528
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... OMIM:619855
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Diarrhea, Vomiting, Hypoglycemia OMIM:606528
Mandibuloacral Dysplasia
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... ORPHA:171706
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Lipoatrophy ORPHA:79087
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Flexion contracture, Hypertriglyceridemia, Lipodystrophy, Elevated hepatic transami... OMIM:615381
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Small for gestational age, Maturit... ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... OMIM:606762
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentrati... OMIM:616834
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly OMIM:610539
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Maternal diabetes, Loss of faci... ORPHA:79083
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Primary Lipodystrophy
Hyperlipidemia, Lipoatrophy, Type II diabetes mellitus, Pancreatitis, Splenomegaly, Cirrhosis, Li... ORPHA:90970
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Pancreatitis, Cellulitis, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Lipodyst... ORPHA:2348
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Generalized ... ORPHA:79086
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Hepatic ... ORPHA:435651
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase co... OMIM:619868
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276580
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:151660
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... ORPHA:436182
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276575
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Diarrhea, Vomiting, Elevated hepatic transaminase, Hypocholestero... ORPHA:71
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... OMIM:615558
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Lipoatrophy, Pancr... ORPHA:280365
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Neoplasm of the liver, Hypoinsulinemia, Constipation, Abnormality of th... ORPHA:2126
Mpi-Cdg
Failure to thrive, Decreased liver function, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diarrhe... ORPHA:79319
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Ileus, Hyperinsulinemia, Constipation, Hepatomegaly, Flexion contracture, Sple... OMIM:613327
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... ORPHA:263455
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... ORPHA:79237
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperm... OMIM:605814
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Squalene Synthase Deficiency
Constipation, Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL ch... OMIM:618156
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Increas... ORPHA:276556
Seckel Syndrome 10
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Gly... OMIM:617253
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Diarrhea, Vomiting, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... OMIM:306000
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Potocki-Lupski Syndrome
Failure to thrive, Gastroesophageal reflux, Small for gestational age, Hypothyroidism, Hypocholes... OMIM:610883
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue ORPHA:199276
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Joint contracture of the hand, Flexion contracture, Small for gestational age,... OMIM:214150
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Adrenal calcification, Hepatic failure, Cirrhosis, Diarrhea, Hypertri... ORPHA:75234
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... ORPHA:35878
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Small for gestational age, Insulin resistance, Truncal obesity, Hypoglycemia, ... ORPHA:73272
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Steatorrhea, Hepatic failure, Diarrhea, Elevated circulating aspartate aminotransfe... OMIM:278000
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Steatorrhea, Hepatic failure, Cir... OMIM:602579
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... ORPHA:96180
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... OMIM:262190
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Hepatomegaly, Flexion contracture, Steatorrhea, Hypergonadotropic hypogonadism... OMIM:212065
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... ORPHA:71212
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Diarrhea, Vomiting, Hypoglycemia, Elevated circu... ORPHA:230
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Failure to thrive, Glucose intolerance, Small for gestationa... OMIM:606721
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia ORPHA:369873
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... OMIM:616033
Short Syndrome
Inguinal hernia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Weight loss, Abnormal dent... ORPHA:3163
Abetalipoproteinemia
Failure to thrive, Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubi... ORPHA:14
Whipple Disease
Hepatomegaly, Splenomegaly, Cachexia, Diarrhea, Hypothyroidism, Hyponatremia, Insulin resistance,... ORPHA:3452
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased serum testosterone level, Reduced subcutaneous adipose tiss... ORPHA:769
Aromatase Deficiency
Hyperlipidemia, Type II diabetes mellitus, Eunuchoid habitus, Hypergonadotropic hypogonadism, Ins... ORPHA:91
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperlipidemia, Hy... OMIM:248370
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Delayed puberty, Calcinosis ORPHA:90154
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Flexion contracture, Loss of truncal subcu... OMIM:608612
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Atypical scarring of skin, Hypogonadism, Obesity ORPHA:791
Silver-Russell Syndrome
Precocious puberty, Constipation, Gastroesophageal reflux, Cachexia, Recurrent hypoglycemia, Insu... ORPHA:813
Monosomy 13Q34
Hematochezia, Insulin resistance, Infantile hypercalcemia, Obesity, Hepatic steatosis ORPHA:96168
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly OMIM:618810
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:608594
Alg12-Cdg
Failure to thrive, Gastroesophageal reflux, Abnormal adipose tissue morphology, Camptodactyly, El... ORPHA:79324
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity ORPHA:3085
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Elevated circulating aspartate aminotransfer... OMIM:619662
Leprechaunism
Postprandial hyperglycemia, Failure to thrive, Reduced subcutaneous adipose tissue, Decreased bod... ORPHA:508
Werner Syndrome
Slender build, Type II diabetes mellitus, Thyroid carcinoma, Lipoatrophy, Chondrocalcinosis, Lipo... ORPHA:902
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly, Inguinal hernia, Femoral hernia ORPHA:2849
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Chole... OMIM:246200
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... OMIM:269700
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Hypertrig... ORPHA:209902
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Decreased response to growth hormone stimulation test, Chronic ac... OMIM:203800
Tenorio Syndrome
Hypoglycemia, Stomatitis, Hypoinsulinemia, Gastroesophageal reflux OMIM:616260
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Failure to thrive, Precocious puberty, Constipation, Gastroesophageal reflux, Decreased response ... ORPHA:96182
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Abnormal circulating lipid concentration, Truncal obesity, Hypothyroidism, Diabe... OMIM:616541
Dysbetalipoproteinemia
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, H... ORPHA:412
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Reduced circulating transferrin concentration, Secondary hyperaldosteronism,... ORPHA:90363
Gitelman Syndrome
Neoplasm of the pancreas, Failure to thrive, Hypomagnesemia, Hypocalcemia, Hypokalemia, Type II d... ORPHA:358
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Flexion contracture ORPHA:90153
Pancreatic Agenesis 1
Failure to thrive, Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitu... OMIM:260370
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Vomiting, Lactescent serum, Incre... OMIM:238600
Bardet-Biedl Syndrome 1
Abdominal obesity, Nephrogenic diabetes insipidus, Truncal obesity, Biliary tract abnormality, He... OMIM:209900
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... OMIM:207750
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia, Constipation OMIM:244450
Bloom Syndrome
Abdominal obesity, Gastroesophageal reflux, Small for gestational age, Adipose tissue loss, Diabe... ORPHA:125
Dubowitz Syndrome
Gastroesophageal reflux, Inguinal hernia, Episodic vomiting, Hypocholesterolemia, Chronic diarrhea OMIM:223370
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Cholelithiasis, Testicular atrophy, Hyperinsulinemia, Constipation... ORPHA:273
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia, Hepatosplenomegaly ORPHA:31150
Smith-Lemli-Opitz Syndrome
Failure to thrive, Elevated 7-dehydrocholesterol, Precocious puberty, Gastroesophageal reflux, Co... OMIM:270400
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... ORPHA:785
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hyperlipidemia, Decreased serum testosterone concentration, Decreased response ... ORPHA:3464
Atypical Werner Syndrome
Failure to thrive, Decreased body weight, Type II diabetes mellitus, Hyperinsulinemia, Lipoatroph... ORPHA:79474
Alström Syndrome
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Hypergo... ORPHA:64
Pmm2-Cdg
Failure to thrive, Multiple joint contractures, Hyperinsulinemia, Elevated circulating growth hor... ORPHA:79318
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Female hypogonadism, Delayed menarche, Pubertal developmental failure i... ORPHA:740
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Chronic gastritis, Exocrine pancreatic insufficienc... OMIM:619991
Prader-Willi Syndrome
Abdominal obesity, Adrenal insufficiency, Type II diabetes mellitus, Hyperinsulinemia, Precocious... OMIM:176270
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, Cholestatic liv... ORPHA:99413
Turner Syndrome
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, Cholestatic liv... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, Cholestatic liv... ORPHA:99228
Monosomy X
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, Cholestatic liv... ORPHA:99226
Pancreatic Lipase Deficiency
Steatorrhea OMIM:614338

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 Pnlip

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 Pnlip.

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

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MGI Allele Allele Type Produced
Pnliptm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Pnliptm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pnliptm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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