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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
Polyphagia, Obesity, Hepatic steatosis, Hyperinsulinemia OMIM:620195
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Hyperinsulinemia OMIM:618406
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Obesity, Childhood-onset truncal obesity, Hyperinsulinemia ORPHA:71529
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Large for gestational age, Hyperinsulinemia, Focal pancreat... ORPHA:276575
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Cholestasis, Obesity, Hyperinsulinemia, Polyphagia, Childhood-onset truncal ob... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Cholestasis, Obesity, Hyperinsulinemia, Polyphagia, Childhood-onset truncal ob... ORPHA:71526
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Large for gestational age, Polyphagia, Lethargy, Hyperinsul... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Large for gestational age, Hyperinsulinemia, Polyphagia, Le... ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Hyperinsulinemia, Polyphagia, Lethargy, Hyperinsulinemic hypoglycemia,... ORPHA:324575
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Polyphagia, Obesity, Hyperinsulinemia ORPHA:369873
Leptin Deficiency Or Dysfunction
Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Huntington Disease
Decreased body mass index, Oral-pharyngeal dysphagia, Bradykinesia, Disinhibition, Polyphagia, Ad... ORPHA:399
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:614480
Graves Disease
Increased circulating free T3, Polyphagia, Weight loss, Increased circulating free T4 concentrati... OMIM:275000
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
Attention deficit hyperactivity disorder, Polyphagia, Obesity, Aggressive behavior ORPHA:261229
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Polyphagia, Obesity, Hyperinsulinemia OMIM:617885
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Failure to thrive, Decreased body weight OMIM:620085
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Leptin Receptor Deficiency
Aggressive behavior, Obesity, Abnormal eating behavior, Polyphagia OMIM:614963
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Disinhibition OMIM:600274
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Obesity, Inappropriate laughter, Hyperactivity ORPHA:411515
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Hyperinsulinemia, Increased ... ORPHA:97279
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Hepatic steatosis, Failure to thrive ORPHA:26792
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated circulating hepatic transaminase concentration, Hepatomegaly, Very long chain fatty acid... OMIM:264470
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Lethargy, Pancr... OMIM:619386
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity ORPHA:177910
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:618400
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Obesity ORPHA:171829
Diarrhea 13
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Failure to thrive OMIM:620357
Wilson Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatitis, Acute hepa... ORPHA:905
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Failure to thriv... OMIM:617872
Intellectual Developmental Disorder, Autosomal Dominant 72
Attention deficit hyperactivity disorder, Polyphagia, Obesity, Overfriendliness OMIM:620439
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia,... ORPHA:66628
Joubert Syndrome 10
Polyphagia, Obesity, Frequent temper tantrums, Decreased body weight OMIM:300804
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia,... ORPHA:179494
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Temple Syndrome
Polyphagia, Obesity, Small for gestational age ORPHA:254516
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter ORPHA:228402
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased circulating cortisol level, Obesity, Polyphagia OMIM:609734
Bardet-Biedl Syndrome 9
Polyphagia, Obesity, Polydipsia, Truncal obesity OMIM:615986
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hyperinsulinemia, Pancreatitis, Hepatic steatosis ORPHA:79084
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos... OMIM:619048
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreased liver function OMIM:616829
Morbid Obesity And Spermatogenic Failure
Obesity, Hepatic steatosis OMIM:615703
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Abnormal circulating hormone concentration ORPHA:280356
Schaaf-Yang Syndrome
Failure to thrive in infancy, Obesity, Polyphagia, Skin-picking, Impulsivity OMIM:615547
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Polydipsia, Failure to thrive, Splenomeg... ORPHA:525731
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Dysphagia, Failure to thrive, Decreased liver function ORPHA:70472
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Citrullinemia Type Ii
Hepatic fibrosis, Decreased body mass index, Elevated circulating hepatic transaminase concentrat... ORPHA:247585
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hyperactivity, Hepatomegaly ORPHA:363400
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... OMIM:615438
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive OMIM:606407
Carnitine Deficiency, Systemic Primary
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Decreased carni... OMIM:212140
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Failure to thr... OMIM:278000
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circulating alanine amino... OMIM:618805
Man1B1-Cdg
Polyphagia, Truncal obesity ORPHA:397941
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato... ORPHA:42
Cebalid Syndrome
Polyphagia OMIM:618774
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Copper accumulation in liver ORPHA:209919
Luscan-Lumish Syndrome
Polyphagia, Obesity, Aggressive behavior OMIM:616831
Bardet-Biedl Syndrome 19
Obesity, Hepatic steatosis OMIM:615996
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality OMIM:607485
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Secondary Short Bowel Syndrome
Cholestasis, Polyphagia, Weight loss, Failure to thrive ORPHA:95427
Wagro Syndrome
Obesity, Polyphagia, Aggressive behavior, Compulsive behaviors, Agitation OMIM:612469
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Self-injurious behavior, Abnormal temper tantrums, Decreased circulating gonadotropin concentrati... ORPHA:98793
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Angelman Syndrome
Self-injurious behavior, Obesity, Inappropriate laughter, Recurrent hand flapping, Polyphagia, Ag... ORPHA:72
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Lethargy, Macrovesicular hepatic steatosis, Elevated circulating hepatic transamina... OMIM:600649
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Self-injurious behavior, Abnormal temper tantrums, Decreased circulating gonadotropin concentrati... ORPHA:177904
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Self-injurious behavior, Abnormal temper tantrums, Decreased circulating gonadotropin concentrati... ORPHA:177901
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Cholesterol gallston... ORPHA:209902
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:369840
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos... OMIM:614582
Macrocephaly-Intellectual Disability-Autism Syndrome
Attention deficit hyperactivity disorder, Hepatic steatosis ORPHA:210548
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Self-injurious behavior, Abnormal temper tantrums, Decreased circulating gonadotropin concentrati... ORPHA:98754
Hemochromatosis, Type 4
Hepatomegaly, Cirrhosis, Hepatic steatosis OMIM:606069
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity OMIM:615538
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
Ddost-Cdg
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Failure to thrive ORPHA:300536
Chromosome Xq26.3 Duplication Syndrome
Polyphagia, Increased circulating insulin-like growth factor 1 concentration, Elevated circulatin... OMIM:300942
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis OMIM:612526
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Cachexia, Cirrhosis, Weight loss, Macrov... ORPHA:298
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Failure to thrive, Obesity, Polyphagia, Skin-picking, Lethargy, Abdomin... ORPHA:398079
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Decreased adiponectin level, Hepatic steatosis, Decreased serum leptin OMIM:615238
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Failure to thrive, Increased body weight, Polyphagia, Skin-picking, Let... ORPHA:398069
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis OMIM:608709
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Cyanosis, Elevated circulatin... OMIM:261680
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Failure to thrive, Fasting hyperinsuline... ORPHA:71212
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Lethargy, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:201450
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Abdominal obesity OMIM:615980
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Bruxism, Inappropriate laughter, Recurrent hand flapping, Polyphagia, Ag... OMIM:156200
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... OMIM:618528
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Microvesicular ... OMIM:615595
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Hepatic steatosis, Decreased serum leptin ORPHA:79085
X-Linked Acrogigantism
Fasting hyperinsulinemia, Decreased thyroid-stimulating hormone level, Polyphagia, Elevated circu... ORPHA:300373
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hepatic steatosis, Lethargy, Hepatomegaly OMIM:201475
Gracile Syndrome
Cholestasis, Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration ORPHA:53693
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Failure to thrive, Cholestasis, Elevated circulating aspartate... OMIM:615486
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Hepatic steatosis, Pancreatitis, Hepatomegaly, Decreased serum leptin ORPHA:435651
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Congenital Generalized Lipodystrophy
Failure to thrive, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hepatomegaly ORPHA:528
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hyperinsulinemia, Spl... OMIM:613327
Dpm1-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... ORPHA:79322
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Hepatic steatosis, Spl... OMIM:608594
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Failure to thrive, Cholestasis, Hepatic steatosis, Elevated circulating alanine ... OMIM:614300
3-Methylglutaconic Aciduria, Type V
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:610198
Gangliocytoma
Polyphagia, Elevated circulating growth hormone concentration, Abnormal prolactin level ORPHA:251937
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Obesity, Hepatic steatosis, Hyperactivity ORPHA:254346
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis OMIM:613877
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Failure to thrive, Micronodular cirrhosis, Hepatocellular necrosis, Cholestasis,... OMIM:256810
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Obesity ORPHA:251004
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Cirrhosis, Hepatic steatosis OMIM:604367
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:619487
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Acute hepatic steatosis, Failure to thrive OMIM:210200
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver function, Elevated... OMIM:617093
Prader-Willi Syndrome
Self-injurious behavior, Class III obesity, Failure to thrive in infancy, Obesity, Hyperinsulinem... OMIM:176270
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:619013
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Hepatic steatosis, Spl... OMIM:269700
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Polyphagia, Restlessness, Aggressive behavior, Self-mutilation ORPHA:251028
Liver Failure, Infantile, Transient
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Microvesicular he... OMIM:613070
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Ele... OMIM:614921
Chylomicron Retention Disease
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, In... ORPHA:71
Adrenomyodystrophy
Hepatic steatosis, Failure to thrive ORPHA:977
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Lethargy, Hepatic steatosis, Decreased liver function OMIM:614922
Prader-Willi Syndrome
Decreased circulating gonadotropin concentration, Failure to thrive, Decreased circulating inhibi... ORPHA:739
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Lethargy, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:212138
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Bradykinesia, Cholestasis, Elevated circulating aspartate aminotransferase con... OMIM:614924
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Hepatic steatosis, Decreased serum leptin ORPHA:435660
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... OMIM:615381
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Splenomegaly, Sclerosin... ORPHA:2137
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Obesity, Aggressive behavior, Polyphagia, Hyperactivity, Collectionism, ... ORPHA:96121
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Polyphagia, Attention deficit hyperactivity ... ORPHA:404448
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... ORPHA:189427
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Elevated circulating hepatic transaminase concentration, Decreased ser... ORPHA:2959
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Lipid accumulation in hepatocytes, Letha... ORPHA:20
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:605911
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis OMIM:231530
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis ORPHA:52430
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis, Failure to thrive OMIM:236200
Pparg-Related Familial Partial Lipodystrophy
Splenomegaly, Hepatic steatosis, Cirrhosis, Pancreatitis, Hepatomegaly ORPHA:79083
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Failure to thrive in... OMIM:619418
Citrullinemia, Type Ii, Neonatal-Onset
Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Elevated circulating aspartate amin... OMIM:605814
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:608836
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Splenomegaly, Pancreatitis, Hepatic steatosis ORPHA:2348
Helsmoortel-Van Der Aa Syndrome
Failure to thrive, Bruxism, Obesity, Polyphagia, Attention deficit hyperactivity disorder, Dyspha... OMIM:615873
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Hepatic steatosis, Elevated circulating hepatic transaminase concentration... ORPHA:99901
Pseudohypoparathyroidism Type 1C
Polyphagia, Obesity, Elevated circulating parathyroid hormone level, Reduced circulating prolacti... ORPHA:79444
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Chol... OMIM:617156
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Elevated circulating hepatic transaminase concentration, Polydipsia, Obe... ORPHA:293987
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatic s... ORPHA:228305
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Cholestasis, Lethargy, Chronic hepatic failure, Diffuse hepatic ste... ORPHA:746
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos... OMIM:619377
Weaver Syndrome
Polyphagia OMIM:277590
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... ORPHA:404454
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Obesity, Polyphagia, Elevated circulating calcito... ORPHA:79443
1P36 Deletion Syndrome
Self-injurious behavior, Annular pancreas, Failure to thrive, Abnormality of the spleen, Obesity,... ORPHA:1606
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Hepatic steatosis, Hepatic periportal necrosis OMIM:231680
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hepatomegaly, Acute pancreatitis ORPHA:79086
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Microvesicular hepatic steatosis OMIM:616672
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Elevated circulating aspartate aminotransferase c... OMIM:617253
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Failure to thrive, Cholestasis, Hepatic ... OMIM:261515
Craniopharyngioma
Polyphagia, Obesity ORPHA:54595
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:212065
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Hepatic steatosi... ORPHA:98907
Familial Chylomicronemia Syndrome
Failure to thrive, Hepatosplenomegaly, Hepatic steatosis, Decreased body weight, Recurrent pancre... ORPHA:444490
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Failure to thrive, Decreased liver function, Diffuse hepatic steatosis ORPHA:436271
Dilated Cardiomyopathy With Ataxia
Repetitive compulsive behavior, Elevated circulating hepatic transaminase concentration, Microves... ORPHA:66634
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated circulating hepatic transaminase concentration, Polydipsia, Abnormality of exocrine panc... ORPHA:93111
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Splenomegaly, Hepatic steatosis, Pancreatitis, Hepatomegaly, Decreas... ORPHA:280365
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Ag... ORPHA:17
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Microvesicular hepatic ... OMIM:611126
Combined Oxidative Phosphorylation Deficiency 37
Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct... OMIM:618329
Dysbetalipoproteinemia
Hepatomegaly, Obesity, Acute pancreatitis, Hepatic steatosis ORPHA:412
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Elevated circulating hepatic transaminase concentration, Failure to thrive,... OMIM:619475
Monosomy 13Q34
Obesity, Hepatic steatosis ORPHA:96168
3-Methylglutaconic Aciduria Type 7
Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:445038
Wilson Disease
Hepatic failure, Portal fibrosis, Acute hepatic failure, Elevated circulating aspartate aminotran... OMIM:277900
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:348
Pearson Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine pancreatic ins... ORPHA:699
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancre... OMIM:616263
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Le... OMIM:229600
Alstrom Syndrome
Elevated circulating hepatic transaminase concentration, Obesity, Hyperinsulinemia, Hepatic steat... OMIM:203800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Hair-pulling, Polyphagia, Attention deficit hyperacti... OMIM:620330
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Failure to thrive, Decreased liver function, Increased intramyocellular lipid droplets, Hepatomeg... OMIM:220110
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:275761
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis OMIM:620601
Arima Syndrome
Hepatic fibrosis, Polydipsia, Hepatic steatosis, Cirrhosis, Hepatomegaly OMIM:243910
3-Methylglutaconic Aciduria, Type Viib
Hepatic steatosis OMIM:616271
Abetalipoproteinemia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... ORPHA:14
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis OMIM:619273
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct... OMIM:613658
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... OMIM:610717
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Macrovesicular hepatic steatosis, Splenomegaly OMIM:617303
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Micr... OMIM:203700
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic failure, Hepatic steatosis, Hepatic calcification ORPHA:228308
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... OMIM:124000
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... ORPHA:98908
Liver Disease, Severe Congenital
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:619991
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... OMIM:619573
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Hepatic steatosis, Increased hepatic glycogen content, Pancreatitis, Hepatomeg... ORPHA:79259
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Hyperinsulinemia, Acute pancreatitis, Hepatic steatosis OMIM:151660
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Cholestasi... ORPHA:247598
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:615356
Chromosome 1P36 Deletion Syndrome, Distal
Obesity, Oppositional defiant disorder, Self-mutilation, Aggressive behavior, Polyphagia, Dysphagia OMIM:607872
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating hepatic transaminase concentration, Failure to thrive, Increased hepatic ech... OMIM:619525
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Failure to thrive, Hepatic steatosis, Splenomegaly, Self-mutilation, A... OMIM:270400
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:99226
Intellectual Developmental Disorder, Autosomal Dominant 68
Attention deficit hyperactivity disorder, Hepatic steatosis OMIM:619934
Aicardi-Goutieres Syndrome 7
Hepatitis, Splenomegaly, Hepatic steatosis, Weight loss, Hepatomegaly OMIM:615846
Bloom Syndrome
Hepatic steatosis, Small for gestational age OMIM:210900
Aromatase Deficiency
Obesity, Eunuchoid habitus, Hepatic steatosis ORPHA:91
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis,... OMIM:618278
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Large for gestational age, Microvesicular hepatic steatosis, Cirrhosis, Elevated hepatic iron con... OMIM:300868
Ogden Syndrome
Microvesicular hepatic steatosis, Dysphagia, Jaundice, Macrovesicular hepatic steatosis, Motor st... OMIM:300855
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Failure to thrive, Cholestasis, Bruxism, Hepatosplenomegaly, Stereotypical body rocking, Portal h... OMIM:619503
Atypical Werner Syndrome
Failure to thrive, Abnormal circulating leptin concentration, Fasting hyperinsulinemia, Hyperinsu... ORPHA:79474
Alström Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepat... ORPHA:64
Digeorge Syndrome
Cholelithiasis, Obesity, Splenomegaly, Hepatic steatosis, Attention deficit hyperactivity disorde... OMIM:188400
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Microvesicular hepatic steatosis, Dysphagia, Small for gestational age, Increa... OMIM:220111
Bardet-Biedl Syndrome
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Obesity, Hepatic steat... ORPHA:110
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Abdominal obesity OMIM:619321
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Slender build, Increased serum estradiol, Hepatic steatosis, Increased serum t... ORPHA:3455
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent... 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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