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Gene: Leap2 MGI:2672795

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
liver-expressed antimicrobial peptide 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 Leap2 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 Leap2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis, Polyphagia, Obesity OMIM:620195
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Aggressive behavior, Hyperinsulinemia, Obesity, Polyphagia ORPHA:329249
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Attention deficit hyperactivity disorder, Increased resting energy exp... ORPHA:369873
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia, Obesity OMIM:618406
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Polyphagia, Obesity, Childhood-onset truncal obesity ORPHA:71529
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Agitation, Hyperinsulinemic hypoglycem... ORPHA:276575
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia, Obesity, Cholestasis, Hyperinsulinemia, Failure to thrive, Childhood-onset truncal ob... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia, Obesity, Cholestasis, Hyperinsulinemia, Failure to thrive, Childhood-onset truncal ob... ORPHA:71526
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Agitation, Hyperinsulinemic hypoglycemia, Diffuse pancre... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Agitation, Hyperinsulinemic hypoglycem... ORPHA:276580
Leptin Deficiency Or Dysfunction
Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Large for gestational age, Hyperinsulinemia, Agitation, ... ORPHA:324575
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Bradykinesia, Addictive alcohol use,... ORPHA:399
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, H... OMIM:614480
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
14Q11.2 Microduplication Syndrome
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Polyphagia, Obesity, Increased serum leptin OMIM:617885
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Leptin Receptor Deficiency
Abnormal eating behavior, Polyphagia, Obesity, Aggressive behavior OMIM:614963
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Inappropriate laughter, Obesity ORPHA:411515
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ... OMIM:264470
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Failure to thrive, Hepatic steatosis ORPHA:26792
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Hyperinsulinemia, Increased ... ORPHA:97279
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Anorexia, Elevated circulating ala... OMIM:619386
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity ORPHA:177910
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
6Q16 Microdeletion Syndrome
Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Diarrhea 13
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis OMIM:620357
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Splenome... ORPHA:905
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Elevated circulating thyroid-stimulating hormone concentration, Hepatic failure, Fa... OMIM:617872
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased serum tes... ORPHA:66628
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Increased muscle lipid content, Hepatomegaly OMIM:610717
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased serum tes... ORPHA:179494
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Temple Syndrome
Small for gestational age, Polyphagia, Obesity ORPHA:254516
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... ORPHA:228402
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Polyphagia, Obesity, Cholestasis OMIM:609734
Bardet-Biedl Syndrome 9
Truncal obesity, Polydipsia, Polyphagia, Obesity OMIM:615986
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619048
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Obesity OMIM:615703
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function OMIM:616829
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hyperinsulinemia, Hepatic steatosis, Pancreatitis ORPHA:79084
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Obesity, Skin-picking, Polyphagia OMIM:615547
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperinsulinemia, Hepatic fibrosis, Abnormal circulating hormone concentration ORPHA:280356
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Splenomegaly, Jaundice, Increased cir... ORPHA:525731
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Hepatic steatosis, Decreased liver function, Dysphagia ORPHA:70472
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Restlessness, Decreased body mass ind... ORPHA:247585
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperactivity, Hyperinsulinemia, Cirrhosis, Hepatic steatosis ORPHA:363400
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:212140
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia OMIM:606407
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... OMIM:615438
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis OMIM:618234
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... OMIM:278000
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... OMIM:618805
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Decreased liver function, Lethargy, Hepati... ORPHA:42
Cebalid Syndrome
Polyphagia OMIM:618774
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Luscan-Lumish Syndrome
Polyphagia, Obesity, Aggressive behavior OMIM:616831
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Bardet-Biedl Syndrome 19
Hepatic steatosis, Obesity OMIM:615996
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Small for gestational age, Bulimia, Decreased inhibin B level, Obesity, Decrea... ORPHA:98793
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Secondary Short Bowel Syndrome
Failure to thrive, Polyphagia, Cholestasis, Weight loss ORPHA:95427
Angelman Syndrome
Hyperactivity, Aggressive behavior, Tongue thrusting, Obesity, Self-injurious behavior, Inappropr... ORPHA:72
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia OMIM:612469
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Small for gestational age, Bulimia, Decreased inhibin B level, Obesity, Decrea... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Small for gestational age, Bulimia, Decreased inhibin B level, Obesity, Decrea... ORPHA:177901
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Hemochromatosis, Type 4
Hepatomegaly, Hepatic steatosis, Cirrhosis OMIM:606069
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Lethargy OMIM:600649
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small for gestational age, Bulimia, Decreased inhibin B level, Obesity, Decreased circulating gon... ORPHA:98754
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Macrocephaly-Intellectual Disability-Autism Syndrome
Hepatic steatosis, Attention deficit hyperactivity disorder ORPHA:210548
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Jaundice, C... ORPHA:79303
Rotor Syndrome
Jaundice, Storage in hepatocytes, Intermittent jaundice ORPHA:3111
Chromosome Xq26.3 Duplication Syndrome
Increased circulating insulin-like growth factor 1 concentration, Polyphagia, Elevated circulatin... OMIM:300942
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Ddost-Cdg
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis ORPHA:300536
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Lethargy OMIM:201450
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Decreased adiponectin level, Decreased serum leptin OMIM:615238
Lipodystrophy, Congenital Generalized, Type 3
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Sim1-Related Prader-Willi-Like Syndrome
Obesity, Abdominal obesity, Skin-picking, Abnormal temper tantrums, Lethargy, Failure to thrive, ... ORPHA:398079
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis... ORPHA:298
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Cyanosis, Elevated circulating alanine aminotransferase concentration, Increased he... OMIM:261680
Magel2-Related Prader-Willi-Like Syndrome
Impulsivity, Increased body weight, Abdominal obesity, Abnormal temper tantrums, Compulsive behav... ORPHA:398069
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis OMIM:608709
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly... OMIM:251880
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hepatic steatosis OMIM:615980
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Decreased adiponectin level, Decreased serum leptin ORPHA:79085
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Fasting hyperinsulinemia, Hepatic necrosis,... ORPHA:71212
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, Ch... ORPHA:101330
Intellectual Developmental Disorder, Autosomal Dominant 1
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla... OMIM:156200
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hepatocellular necrosis, Periportal fibrosis, Lethargy, Hepatic steatosis OMIM:201475
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Increased body mass index, Elevated circulating grow... ORPHA:300373
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Hepatic steatosis, Pancreatitis ORPHA:435651
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... OMIM:615486
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Failure to thr... ORPHA:79322
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Cholestasis, Portal fibrosis, Failur... OMIM:614300
Gangliocytoma
Abnormal prolactin level, Polyphagia, Elevated circulating growth hormone concentration ORPHA:251937
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Failure to thrive, Elevated circulating alanine aminotransferas... OMIM:610198
Congenital Generalized Lipodystrophy
Hepatomegaly, Hyperinsulinemia, Cirrhosis, Failure to thrive, Hepatic steatosis ORPHA:528
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Splenome... OMIM:608594
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Hepatic steatosis, Obesity ORPHA:254346
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hyperinsulinemia, Dysphagia, Failure t... OMIM:613327
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased sarcoplasmic glycogen, Splenomegaly, Hepat... ORPHA:264580
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... OMIM:256810
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplen... OMIM:619487
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis OMIM:613877
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Lethargy OMIM:210200
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Obesity ORPHA:251004
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Intrahe... OMIM:617093
Prader-Willi Syndrome
Failure to thrive in infancy, Hyperinsulinemia, Obesity, Self-injurious behavior, Abdominal obesi... OMIM:176270
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Hepatic steatosis, Cirrhosis OMIM:604367
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Polyphagia, Self-mutilation, Aggressive behavior ORPHA:251028
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:613070
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hepatosplenomegaly OMIM:619013
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Elevat... OMIM:614921
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Splenome... OMIM:269700
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function, Lethargy OMIM:614922
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis ORPHA:977
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Lethargy OMIM:212138
Prader-Willi Syndrome
Decreased inhibin B level, Decreased circulating gonadotropin concentration, Abdominal obesity, A... ORPHA:739
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Decreased adiponectin level, Decreased serum leptin ORPHA:435660
Chylomicron Retention Disease
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Failure to thrive, Hepati... ORPHA:71
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Elevated circul... OMIM:300972
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alanine aminotransferase concen... OMIM:615381
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... ORPHA:2137
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Aggressive behavior, Polyphagia, Obesity, Self-injurious behavior, ... ORPHA:96121
Adnp Syndrome
Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Abnormal temper tantrums, Attent... ORPHA:404448
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hyperinsulinemia, Truncal ... OMIM:203800
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Small for gestational age, Decreased ser... ORPHA:2959
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis ORPHA:52430
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Anorexia, Jaundice, Lipid accumu... ORPHA:20
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis OMIM:231530
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Hepatic steatosis, Pancreatitis OMIM:236200
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis, Pancreatitis ORPHA:79083
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis ORPHA:369840
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Microvesicular hepatic steatosis, S... OMIM:619418
Citrullinemia, Type Ii, Neonatal-Onset
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:605814
Pseudohypoparathyroidism Type 1C
Elevated circulating parathyroid hormone level, Polyphagia, Obesity, Reduced circulating prolacti... ORPHA:79444
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:608836
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:2348
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Obesity, Increased intramyoc... ORPHA:98907
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Failure to thrive, Microvesicular hepatic steatosis, Jaundice, Cho... OMIM:617156
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Obesity, Truncal obesity, Compulsive beha... OMIM:615873
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Cholestasis, Diffuse hepatic steatosis, Chronic hepatic failure, Le... ORPHA:746
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase ORPHA:99901
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis ORPHA:228305
Pseudohypoparathyroidism Type 1A
Reduced circulating prolactin concentration, Obesity, Elevated circulating parathyroid hormone le... ORPHA:79443
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Cyanosis, Aggressive behavior, Obesity, Self-injurious behavior, C... ORPHA:293987
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... OMIM:619377
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:277900
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Hepatic failure... ORPHA:541423
Weaver Syndrome
Polyphagia OMIM:277590
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Decreased resting energy ... ORPHA:404454
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic periportal necrosis, Hepatic steatosis, Jaundice OMIM:231680
1P36 Deletion Syndrome
Abnormality of the spleen, Abnormal repetitive mannerisms, Polyphagia, Obesity, Self-injurious be... ORPHA:1606
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive OMIM:616672
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circu... OMIM:617253
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... OMIM:261515
Craniopharyngioma
Polyphagia, Obesity ORPHA:54595
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hyperinsulinemia, Cirrhosis, Hepatic steatosis ORPHA:79086
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis OMIM:212065
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Failure to thrive, Diffuse hepatic steatosis, Decreased liver function ORPHA:436271
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Splenomegaly, Hepatic steatosi... ORPHA:280365
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... ORPHA:93111
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas... OMIM:618329
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Aggressive behavior, Increased intramyocellular lipi... ORPHA:17
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Repetitive compulsive behavior ORPHA:66634
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure OMIM:611126
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Restrictive behavior, Hyperactivity, Failure to thrive, Impulsivit... OMIM:619475
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Obesity ORPHA:412
Familial Chylomicronemia Syndrome
Acute pancreatitis, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Decreased body weight, ... ORPHA:444490
Monosomy 13Q34
Hepatic steatosis, Obesity ORPHA:96168
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis ORPHA:445038
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis ORPHA:348
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Small for gestational age, Sple... ORPHA:699
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cirrhosis, Lethargy, Failure to thrive, He... OMIM:229600
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Exocri... OMIM:616263
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Chronic pan... ORPHA:98908
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Increased hepa... OMIM:220110
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... OMIM:620330
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Cachexia, Hyper... ORPHA:275761
Arima Syndrome
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Polydipsia, Hepatic steatosis OMIM:243910
Cimdag Syndrome
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
3-Methylglutaconic Aciduria, Type Viib
Hepatic steatosis OMIM:616271
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Cirrhosis, Failure to thrive, Hepa... ORPHA:14
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:617303
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Small for gestational age, Slender build, Portal hypertension, Cho... OMIM:613658
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Peripo... OMIM:124000
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic failure, Hepatic steatosis, Hepatic calcification ORPHA:228308
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic... OMIM:203700
Liver Disease, Severe Congenital
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Biliary hyperplasia, Intrahepatic... OMIM:619991
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Jaundice, Cholestasis,... ORPHA:247598
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Failure to thrive, Hepatocellular adenoma, Hepatocellular carcinoma, Increased hepa... ORPHA:79259
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Hyperinsulinemia, Hepatic steatosis OMIM:151660
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Small for gestational age, Elevated circulating aspartate aminotransferase concentr... OMIM:619573
Chromosome 1P36 Deletion Syndrome, Distal
Aggressive behavior, Obesity, Dysphagia, Polyphagia, Self-mutilation, Oppositional defiant disorder OMIM:607872
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Hyperactivity, Aggressive behavior, Splenomegaly, Cholestatic liver disease, Cirrho... OMIM:270400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:615356
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:619525
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis, Attention deficit hyperactivity disorder OMIM:619934
Bloom Syndrome
Small for gestational age, Hepatic steatosis OMIM:210900
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99226
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Splenomegaly, Hepatitis, Weight loss, Hepatic steatosis OMIM:615846
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis, Fail... OMIM:618278
Aromatase Deficiency
Eunuchoid habitus, Hepatic steatosis, Obesity ORPHA:91
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Large for gestational age, Microvesicular hepatic steatosis, Cirrhosis, Elevated he... OMIM:300868
Ogden Syndrome
Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis, Dysphagia, Abnormal... OMIM:300855
Atypical Werner Syndrome
Abnormal circulating leptin concentration, Fasting hyperinsulinemia, Hyperinsulinemia, Decreased ... ORPHA:79474
Alström Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Elevated circulat... ORPHA:64
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Portal hypertension, Impulsivity, Cholestasis, Hepatosplenomegaly, Dysphagia, Stereotypical body ... OMIM:619503
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Small for gestational age, Microvesicular hepatic steatosis, Dysphagia, Increased hepatocellular ... OMIM:220111
Digeorge Syndrome
Decreased circulating parathyroid hormone level, Splenomegaly, Obesity, Attention deficit hyperac... OMIM:188400
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Hepatic steatosis OMIM:619321
Wiedemann-Rautenstrauch Syndrome
Slender build, Increased serum estradiol, Increased serum testosterone level, Failure to thrive, ... ORPHA:3455
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:619127
Homozygous Familial Hypercholesterolemia
Hepatic steatosis 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 Leap2

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 Leap2.

No publications found that use IMPC mice or data for Leap2.

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
Leap2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Leap2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Leap2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Leap2em2(IMPC)H Indel Mice
Leap2tm214964(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors
Leap2em3(IMPC)H Indel Mice
Leap2em1(IMPC)H Indel Mice

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