Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
microRNA 378a
Synonyms:
mmu-mir-378,  Mirn378,  mmu-mir-378a

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 Mir378a 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 Mir378a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... OMIM:232700
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... OMIM:608600
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatos... OMIM:612526
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis OMIM:246650
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Hyperinsulinemia, Type II diabetes mellitus, Loss... OMIM:604367
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Increased intraabdominal fat, ... ORPHA:79085
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Loss of gluteal subcutane... ORPHA:435660
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... OMIM:614480
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Hypertri... ORPHA:435651
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Hypertriglyceridemia, Lipodystrop... OMIM:615238
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hirsutism, Hyperin... OMIM:151660
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... OMIM:610717
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... ORPHA:363400
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Congenital Generalized Lipodystrophy
Failure to thrive, Hypertrichosis, Hyperinsulinemia, Hepatomegaly, Low anterior hairline, Increas... ORPHA:528
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... OMIM:306000
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Spa... ORPHA:2457
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperm... OMIM:605814
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Flexion contracture, Hypertriglyceridemia, Lipodystrophy, Elevated hepatic transami... OMIM:615381
Temple Syndrome
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... OMIM:616222
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus ORPHA:436182
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Pparg-Related Familial Partial Lipodystrophy
Generalized hirsutism, Lipoatrophy, Pancreatitis, Hepatomegaly, Splenomegaly, Insulin resistance,... ORPHA:79083
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Hypertri... OMIM:613027
Familial Partial Lipodystrophy, Dunnigan Type
Generalized hirsutism, Lipoatrophy, Pancreatitis, Cellulitis, Hepatomegaly, Splenomegaly, Hypertr... ORPHA:2348
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemi... ORPHA:75234
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Acquired Generalized Lipodystrophy
Generalized hirsutism, Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, ... ORPHA:79086
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Steatorrhea, Hepatic failure, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Niemann-Pick Disease, Type B
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL cholesterol co... OMIM:607616
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia, Insulin resistance, Obesity OMIM:617885
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, E... OMIM:603471
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Hepatomegaly, Hepatic failure, I... ORPHA:2088
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Generalized hirsut... ORPHA:280365
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, J... OMIM:603552
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, H... ORPHA:369
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... OMIM:617156
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Hypertrig... ORPHA:209902
Glycerol Kinase Deficiency
Hypoglycemia, Hypertriglyceridemia, Small for gestational age OMIM:307030
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, H... OMIM:300635
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Biliary tract abnormalit... ORPHA:1414
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia, Splenomegaly, Panniculitis OMIM:618398
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase co... ORPHA:370
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase co... ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Recurrent hypoglycemia, Elevated cir... ORPHA:79240
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hirsutism, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, ... OMIM:613327
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Hypoglycemia, Increase... ORPHA:446
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Hepatomegaly, Flexion contracture, Splenomegaly, Hypertriglyceridemia, Lipodys... OMIM:617591
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Fine hair, Diabetes ... ORPHA:181393
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Decreased HDL ... ORPHA:247585
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:98855
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:269700
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... OMIM:231100
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly OMIM:613101
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:261
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoglycemia, E... OMIM:232400
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... OMIM:615558
Familial Chylomicronemia Syndrome
Failure to thrive, Hyperlipidemia, Decreased body weight, Hepatosplenomegaly, Acute pancreatitis,... ORPHA:444490
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... ORPHA:247598
Primary Lipodystrophy
Hyperlipidemia, Lipoatrophy, Pancreatitis, Type II diabetes mellitus, Splenomegaly, Cirrhosis, Li... ORPHA:90970
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbuminemia, Hepatic... OMIM:619013
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Dysbetalipoproteinemia
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, A... ORPHA:412
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Conjugated ... OMIM:214900
Hyperlipoproteinemia, Type Id
Failure to thrive, Hyperlipoproteinemia, Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL ... OMIM:615947
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Hyperammonemia, Small for gestational age, Increased serum pyruvate, El... OMIM:615160
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, I... OMIM:267700
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Hyperinsulinemia, Alopecia, Decreased HDL cholesterol con... OMIM:203800
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... OMIM:207750
Smith-Magenis Syndrome
Hypertriglyceridemia, Increased body weight, Synophrys, Hypercholesterolemia OMIM:182290
Seckel Syndrome 10
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase con... OMIM:617253
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, ... ORPHA:2089
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... OMIM:619418
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Elevated ci... ORPHA:158061
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Dec... OMIM:212140
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Sparse hair, Flexion contracture, Alopecia... OMIM:608612
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Hepatic steatosis OMIM:617872
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Cyanosis, Low plasma citrulline, Hypoglycemia, Elevated circulatin... OMIM:261680
H Syndrome
Abnormal eyebrow morphology, Hypertrichosis, Alopecia, Hepatosplenomegaly, Camptodactyly, Hypertr... ORPHA:168569
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Failure to thrive, Glucose intolerance, Sparse scalp hair, S... OMIM:606721
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Lipoatrophy, Sparse hair, Absent eyebrow, Hypertriglyceridemia, Absent eyel... ORPHA:363618
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Sparse scalp hair,... OMIM:248370
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Insulin-resistant diabetes mellitus ORPHA:66628
Nephrotic Syndrome, Type 14
Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Insulin-resistant diabetes mellitus ORPHA:179494
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, S... OMIM:603553
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease... ORPHA:540
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Peritonitis, Hypertriglyceridemia, Hypoalbuminemia, Hyp... ORPHA:567548
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hypertrichosis, Hyperinsulinemia, Small for gestational age, Diabetic... OMIM:262190
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Hyperbilirubine... OMIM:251880
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circu... OMIM:238600
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... ORPHA:86816
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Micronodular cirrhosis, Alopecia, Abnormal circulating creatine kinase concentratio... ORPHA:98907
Smith-Magenis Syndrome
Hypertriglyceridemia, Synophrys, Hypercholesterolemia, Obesity, Failure to thrive in infancy ORPHA:819
Proteasome-Associated Autoinflammatory Syndrome 1
Failure to thrive, Hypertrichosis, Flexion contracture of finger, Elevated circulating C-reactive... OMIM:256040
Werner Syndrome
Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase concentration, Hypertrig... OMIM:277700
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Lysosomal Acid Lipase Deficiency
Failure to thrive, Decreased liver function, Microvesicular hepatic steatosis, Steatorrhea, Hepat... ORPHA:275761
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:255120
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... ORPHA:189439
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... ORPHA:650
Atypical Werner Syndrome
Hyperinsulinemia, Alopecia, Glycosuria, White forelock, Hyperglycemia, Decreased body weight, Spa... ORPHA:79474
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Hyperlipidemia, Pancreatitis, Hepatomegaly, Increased hepatic glycogen content... ORPHA:79259
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue ORPHA:199276
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Smal... ORPHA:567983
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hepatic failure, Elevated alpha-fetoprotein, Hyperammonemia, Cirrhosis, Elevat... OMIM:617049
Mandibuloacral Dysplasia Progeroid Syndrome
Glucose intolerance, Hepatomegaly, Sparse hair, Flexion contracture, Sparse eyebrow, Elevated hem... OMIM:619127
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hepatic failure, Splenomegaly, Hyperammonemia ORPHA:664
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... ORPHA:189427
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Steatorrhea, Hepatic fa... ORPHA:470
Classical-Like Ehlers-Danlos Syndrome Type 2
Inguinal hernia, Cellulitis, Alopecia, Widened atrophic scar, Ventral hernia, Hypertriglyceridemi... ORPHA:536532
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Abnormal blood gas level, Decreased liver function, Hyperlipidemia, Hepatomegaly,... ORPHA:77293
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly OMIM:619802
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Pancreatic hypoplasia, Hypoglycemia, Diab... OMIM:609069
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Cholecystitis, Hypertriglyceridemia, Hyperur... ORPHA:90041
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoplastic spleen OMIM:619313
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Alopecia, Insulin resistance, Generalized lipodystrophy, Nail dystrophy, Calcinos... ORPHA:90154
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Hepatomegaly, Cholecystitis, Abnormal circulating creatine kinase concentra... ORPHA:98908
Griscelli Syndrome Type 1
Premature graying of hair, Hyperlipidemia, White hair ORPHA:79476
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hepatomegaly, Glycosuria, Large for gestational age, Elevated hepatic transamin... OMIM:616026
Griscelli Syndrome Type 2
Hyperlipidemia, Hepatomegaly, Splenomegaly, Hypopigmentation of hair, Premature graying of hair, ... ORPHA:79477
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Decreased liver function, Hypoproteinemia, Splenome... ORPHA:167
Alagille Syndrome 1
Failure to thrive, Exocrine pancreatic insufficiency, Prolonged neonatal jaundice, Hepatic failur... OMIM:118450
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Nail dystrophy, Hypercholesterolemia OMIM:610644
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Elevated circulating C-reactive protein concentration, Hepatomegaly, Small for gesta... OMIM:619573
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hyperproteinemia, Hyper... ORPHA:158048
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Glycogen Storage Disease Ia
Hyperlipidemia, Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Hypoglycemia, Elevated hepa... OMIM:232200
Methanol Poisoning
Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus ORPHA:31825
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
19P13.12 Microdeletion Syndrome
Generalized hirsutism, Hyperlipidemia, Synophrys, Arthrogryposis multiplex congenita, Obesity, He... ORPHA:254346
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... ORPHA:157
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal scarring, Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Micronodular... ORPHA:404454
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Obesity, Hypercalcemia ORPHA:369837
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hyperammonemia, H... ORPHA:228308
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Failure to thrive, Sparse scalp hair, Lipoatrophy, Absent ey... OMIM:264090
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia, Nail dystrophy, Hepatosplenomegaly ORPHA:31150
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Slender build, Failure to thrive, Type II diabetes mellitus,... ORPHA:3455
Glycogen Storage Disease Ib
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular car... OMIM:232220
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia, Small for gestational age OMIM:256300
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Hyperlipidemia, Flexion contracture, Alopecia, Breast aplasia, Absen... ORPHA:90153
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Decreased liver function, Splenomegaly, Hepatic fai... ORPHA:2442
Aromatase Deficiency
Generalized hirsutism, Hyperlipidemia, Type II diabetes mellitus, Eunuchoid habitus, Insulin resi... ORPHA:91
Glycogen Storage Disease Ic
Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Hepatocellular carcinoma, Hyp... OMIM:232240
Fructose Intolerance, Hereditary
Failure to thrive, Hypophosphatemia, Hepatomegaly, Hyperbilirubinemia, Cirrhosis, Glycosuria, Hyp... OMIM:229600
Alström Syndrome
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Dorsoce... ORPHA:64
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Diabetes mellitus ORPHA:439232
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Hepatomegaly, Hepatic failure, Abnormality of Krebs cycle metabolism, Low plas... ORPHA:255210
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase co... ORPHA:565612
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Type II diabetes mellitus, Hyperi... ORPHA:99413
Turner Syndrome
Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Type II diabetes mellitus, Hyperi... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Type II diabetes mellitus, Hyperi... ORPHA:99228
Monosomy X
Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Type II diabetes mellitus, Hyperi... ORPHA:99226
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperlipidemia, Cyanosis, Elevated hepatic transaminase, Hyponatremia, Obesity, Hyperglycemia ORPHA:293987
Woodhouse-Sakati Syndrome
Hyperlipidemia, Sparse hair, Alopecia, Fine hair, Diabetes mellitus OMIM:241080
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hyperlipidemia, Alopecia, Aplasia/Hypoplasia of the eyebrow, Insulin-resistant ... ORPHA:3464
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Hepatic steatosis, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665

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 Mir378a

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 Mir378a.

No publications found that use IMPC mice or data for Mir378a.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Mir378atm1(mirKO)Wtsi Reporter-tagged deletion allele (with selection cassette) 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