banner
Genes Phenotypes Help, News, Blog

Gene: Plagl2 MGI:1933165

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:
pleiomorphic adenoma gene-like 2
Synonyms:
N/A

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 Plagl2 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 Plagl2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Diarrhea, Hyperlipidemia, Protein-losing enteropathy, Vomiting, Hypoalbuminemia,... OMIM:615863
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Postnatal growth retardation, Hyperlipidemia,... OMIM:232700
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Obesity OMIM:608320
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Short stature ORPHA:366
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Hypertriglyceridemia, Transient Infantile
Failure to thrive, Hypertriglyceridemia, Vomiting, Short stature OMIM:614480
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... OMIM:615703
Cholestasis, Progressive Familial Intrahepatic, 10
Short stature, Conjugated hyperbilirubinemia, Acholic stools, Hypoalbuminemia, Increased serum bi... OMIM:619868
Glycosylphosphatidylinositol Biosynthesis Defect 17
Growth delay, Hypertriglyceridemia, High palate OMIM:618010
Chylomicron Retention Disease
Failure to thrive, Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Decreased... OMIM:246700
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity ORPHA:71529
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Diarrhea, Hypertriglyceridemia, Esophageal varix ORPHA:75234
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Constipation OMIM:301033
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failur... OMIM:613291
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Severe short-limb dwarfism, Hypertriglyceridemia ORPHA:436182
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Hyperammonemia, Growth delay, Chronic constipation, Hypercholesterolemia, Increase... OMIM:620211
Glycogen Storage Disease Ixa1
Growth delay, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Chylomicron Retention Disease
Hypertriglyceridemia, Diarrhea, Steatorrhea, Growth delay, Vomiting, Hypocholesterolemia, Fat mal... ORPHA:71
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Short stature, Overweight, Obesity, Cleft palate... OMIM:616222
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentration OMIM:610717
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Postnatal growth retardation, Obesity, High palate, Hypercholesterolemia, Intrauterine growth ret... ORPHA:254531
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Short stature, Postnatal growth retardation, Pyloric stenosis, Obesity... ORPHA:96184
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia, Obesity OMIM:617885
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Short stature, Hypocalcemia OMIM:612526
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Vomiting, Intraute... ORPHA:1201
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615947
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in... OMIM:615237
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Inflammation of the large intestine, Colitis, Hyper... OMIM:300635
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Pancreatic Lipase Deficiency
Fat malabsorption, Hypocholesterolemia, Steatorrhea OMIM:614338
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Hypertriglyceridemia OMIM:613101
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Short stature, Obesity ORPHA:329249
Cog4-Cdg
Hypercholesterolemia, Failure to thrive in infancy, Growth delay, Intermittent diarrhea, Recurren... ORPHA:263501
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Diarrhea, Hy... ORPHA:247585
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... ORPHA:86816
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Hyperlipoproteinemia, Type I
Hyperlipidemia, Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hype... OMIM:238600
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diarrhea, Esophageal varix, Increa... OMIM:278000
Galactokinase Deficiency
Small for gestational age, Increased level of galactitol in plasma, Hypergalactosemia, Hyperchole... ORPHA:79237
Smith-Magenis Syndrome
Hypertriglyceridemia, Short stature, Velopharyngeal insufficiency, Increased body weight, Constip... OMIM:182290
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Laron Syndrome
Hypercholesterolemia, Severe short stature, Truncal obesity, Delayed puberty ORPHA:633
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,... OMIM:619079
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentration, Diarrhea... ORPHA:264580
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Short stature, Decreased LDL cholesterol concentration, ... OMIM:616834
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Abnormality of the gastrointestinal tract, Hyperlipidemia, Failure to thrive, Short stature ORPHA:2089
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentration, Postnata... ORPHA:79240
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Peritonitis, Growth delay, Hypoalbuminemia, Hypercholesterolemia, Abnormal ... ORPHA:567548
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Elevated plasma... OMIM:603471
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity ORPHA:209902
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia, Obesity ORPHA:77296
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Macroglossia, Hypercholesterolemia, Failure to thrive, Increased C-peptide ... ORPHA:528
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Glycogen Storage Disease Ixc
Postnatal growth retardation, Hypertriglyceridemia, Growth delay OMIM:613027
Nephrotic Syndrome, Type 1
Small for gestational age, Pyloric stenosis, Hyperlipidemia, Growth delay, Gastroesophageal reflu... OMIM:256300
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia, Short stature OMIM:619013
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Short stature, Hepatocellular carcinoma, Hyperlipidemia, Growth delay, Delayed puberty, Failure t... ORPHA:369
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158057
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Short stature, Obesity, Cleft palate, Constip... ORPHA:819
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... ORPHA:412
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, Increased circulating chylomicron concent... ORPHA:444490
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia, Malabsorption OMIM:214900
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia, Short stature ORPHA:401923
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Postnatal growth retardation, ... ORPHA:2457
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Short stature, Hyperuricemia ORPHA:364
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia, Esophageal v... OMIM:619662
Nephrotic Syndrome, Type 11
Hypercholesterolemia, High palate, Hypoalbuminemia, Cleft palate OMIM:616730
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Low Phospholipid-Associated Cholelithiasis
Overweight, Obesity, Neoplasm of the liver, Hepatocellular carcinoma, Hypercholesterolemia ORPHA:69663
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hematochezia, Hypoka... OMIM:174900
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Obesity ORPHA:66628
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia OMIM:604367
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Pyloric stenosis, Ileus... OMIM:613327
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Obesity ORPHA:179494
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Short stature, High palate, Cleft palate OMIM:618348
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98855
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatocellular carcinoma, Growth delay, Hypophosphatemia, Failure to thrive ORPHA:2088
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Diarrhea, Steatorrhea, Acholic stools, Hypocholesterolemia, Fat ma... OMIM:607765
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... OMIM:615980
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Cachexia, Diarrhea, Esophageal varix, Hyperkalemia, Weight lo... ORPHA:275761
Glycogen Storage Disease Iii
Hyperlipidemia, Short stature, Elevated circulating creatine kinase concentration OMIM:232400
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:261
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Gaisböck Syndrome
Hypertriglyceridemia, Peptic ulcer, Overweight, Obesity, Hyperproteinemia, Increased circulating ... ORPHA:90041
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Neuhauser Syndrome
Short stature, High palate, Dysphagia, Hypercholesterolemia, Bifid uvula OMIM:249310
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:79085
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Secretory diarrhea, Hematochezia, Protein-losing enteropathy,... OMIM:618183
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Increased circulating ferritin concentration, Diarrhea, Enterocolitis, Colitis OMIM:619802
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Short stature, Diarrhea, Hyperlipidemia, Hepatocellular adenoma, Enterocoli... ORPHA:79259
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Diarrhea, Hypertriglyceridemia OMIM:619313
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Growth delay, Macroglossia, Constipation, Hypercholesterolemia, Abnormal circu... ORPHA:90674
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Truncal obesity, Hy... OMIM:203800
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia OMIM:615381
Microtriplication 11Q24.1
Hyperlipidemia, Short stature, Obesity, Cleft palate ORPHA:289522
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal circulat... ORPHA:470
Glycerol Kinase Deficiency
Hypertriglyceridemia, Small for gestational age, Short stature, Hyperglycerolemia, Growth delay, ... OMIM:307030
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Colitis, Hypoalbuminemia, Hypertriglyceridemia ORPHA:540
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Vomiting, Nausea ORPHA:90065
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Short stature, Obesity, Abnormal circulating creatine kinase concentration ORPHA:98907
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, High palate, Short stature ORPHA:2479
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:435651
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:435660
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Hypertriglyceridemia OMIM:617591
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Hypertriglyceridemia, Elevated ci... OMIM:619573
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Werner Syndrome
Hypertriglyceridemia, Short stature, Elevated hemoglobin A1c OMIM:277700
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Xp21 Deletion Syndrome
Growth delay, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Postnatal growth retardation, Hyperlipidemia, Growth delay, High palate, Hypercholest... OMIM:248370
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Failure to thrive in infancy, Growth delay, High palate, Vomiting, Failure ... OMIM:619418
H Syndrome
Hypertriglyceridemia, Short stature, Delayed puberty, Malabsorption ORPHA:168569
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, High, narrow palate, Obesity, Gastroesophageal reflux, Abnor... ORPHA:369837
Immunodeficiency 47
Decreased circulating copper concentration, Chronic diarrhea, Hypercholesterolemia, Failure to th... OMIM:300972
Seckel Syndrome 10
Severe short stature, Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:617253
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Obesity OMIM:619471
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Acholic stools, Hyperlipidemia ORPHA:1414
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Parenteral Nutrition-Associated Cholestasis
Villous atrophy, Small for gestational age, Conjugated hyperbilirubinemia, Abnormal circulating f... ORPHA:567983
Methanol Poisoning
Diarrhea, Vomiting, Hyperlipidemia ORPHA:31825
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hypertriglyceridemia ORPHA:79086
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Small for gestational age, Diarrhea, Vomiting, Dysphagia, Hypercholesterole... OMIM:606721
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:280365
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Short stature, Obesity, Abnormal circulating creatine kinase concentration ORPHA:98908
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Hyperlipidemia, Inc... ORPHA:77293
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Short stature, Hypoammonemia, Malabsorption, Narrow palate, Hypokalemia, Hyperaldos... ORPHA:534
Alagille Syndrome 1
Hypertriglyceridemia, Hepatocellular carcinoma, Hypercholesterolemia, Failure to thrive, Exocrine... OMIM:118450
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Schimke Immuno-Osseous Dysplasia
Small for gestational age, Short stature, Hyperlipidemia, Disproportionate short-trunk short stat... ORPHA:1830
Classical-Like Ehlers-Danlos Syndrome Type 2
Long uvula, High palate, Narrow palate, Hypertriglyceridemia ORPHA:536532
Lowe Oculocerebrorenal Syndrome
Short stature, Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-... OMIM:309000
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Glycogen Storage Disease Ia
Short stature, Hyperlipidemia, Growth delay, Xanthelasma, Hyperuricemia, Hepatocellular carcinoma... OMIM:232200
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Hyperlipidemia, Hyperuricemia ORPHA:35909
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Elevated circulatin... OMIM:256040
19P13.12 Microdeletion Syndrome
Intrauterine growth retardation, Hyperlipidemia, Obesity, Cleft palate ORPHA:254346
Chédiak-Higashi Syndrome
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia ORPHA:167
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Short stature, Elevated hemoglobin A1c, Postnatal growth retardation, High ... OMIM:619127
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Incre... ORPHA:189427
Glycogen Storage Disease Ib
Short stature, Hyperlipidemia, Xanthelasma, Inflammation of the large intestine, Hyperuricemia, H... OMIM:232220
Atypical Werner Syndrome
Hypertriglyceridemia, Short stature, Delayed puberty, Decreased body weight, Failure to thrive, N... ORPHA:79474
Familial Multiple Lipomatosis
Hyperlipidemia, Functional intestinal obstruction ORPHA:199276
Steinert Myotonic Dystrophy
Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Abnormality of the tongue muscle, Diarr... ORPHA:273
Glycogen Storage Disease Ic
Stomatitis, Hyperlipidemia, Xanthelasma, Inflammation of the large intestine, Hyperuricemia, Hepa... OMIM:232240
Aapoaiv Amyloidosis
Abnormality of the gastrointestinal tract, Hyperlipidemia, Elevated circulating creatinine concen... ORPHA:439232
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Small for gestational age, Short stature, Dysphagia, Intrauterine growth re... OMIM:264090
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Diarrhea, Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nit... OMIM:235400
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Short stature, Delayed puberty ORPHA:90154
Aromatase Deficiency
Eunuchoid habitus, Hyperlipidemia, Growth delay, Obesity ORPHA:91
Mandibuloacral Dysplasia With Type B Lipodystrophy
Growth delay, Hyperlipidemia, High palate OMIM:608612
Biliary, Renal, Neurologic, And Skeletal Syndrome
Short stature, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Esoph... OMIM:619534
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:228308
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, High palate, Short stature ORPHA:90153
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia OMIM:608594
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Short stature, Growth delay, Severe intrauterine growth retardation, Submuc... ORPHA:3455
Fabry Disease
Short stature, Malabsorption, Hyperlipidemia, Delayed puberty, Achalasia, Abnormal circulating li... ORPHA:324
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Short stature, Celiac disease, Gastrointestinal dysmotility, Hyperlipidemia, Hyperk... ORPHA:293987
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Elevated circulating creatine kinase concentration ORPHA:565612
Alström Syndrome
Hypertriglyceridemia, Short stature, Hyperlipidemia, Esophageal varix, Obesity, Truncal obesity, ... ORPHA:64
Woodhouse-Sakati Syndrome
Growth delay, Hyperlipidemia, Delayed puberty ORPHA:3464
Woodhouse-Sakati Syndrome
Hyperlipidemia OMIM:241080

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 Plagl2

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 Plagl2.

No publications found that use IMPC mice or data for Plagl2.

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
Plagl2tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Plagl2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Plagl2tm2a(KOMP)Wtsi 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