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Gene: Lnpep MGI:2387123

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Gene Summary

Name:
leucyl/cystinyl aminopeptidase
Synonyms:
IRAP,  vp165,  2010309L07Rik,  gp160,  4732490P18Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal seminal vesicle morphology Lnpeptm1b(KOMP)Wtsi HOM Early adult 0.00
increased anxiety-related response Lnpeptm1b(KOMP)Wtsi HOM Early adult 5.59×10-05
decreased exploration in new environment Lnpeptm1b(KOMP)Wtsi HOM   Early adult 9.01×10-10
decreased locomotor activity Lnpeptm1b(KOMP)Wtsi HOM   Early adult 5.61×10-07

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Histopathology

Images

1 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

3 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

3 Images

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Human diseases caused by Lnpep 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 Lnpep by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus OMIM:612227
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased serum leptin, Increased intraabdominal fat, Lipodystrophy, Decrea... ORPHA:79085
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Decreased serum leptin, Increased C-peptide level, Lipodystrophy, Decreased... OMIM:615238
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue aroun... ORPHA:435660
Ethanolaminosis
Cardiomegaly OMIM:227150
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... ORPHA:411593
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adipose t... ORPHA:435651
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance ORPHA:140941
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia, Hepatomegaly ORPHA:79084
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Enlarged kidney, Enlarged polycystic ovaries, Insulin-resistant diabetes mell... ORPHA:90301
Cortisone Reductase Deficiency 2
Insulin resistance OMIM:614662
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipoatrophy, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Loss of subcutaneous ... ORPHA:280365
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Insulin resistance, Diabetes mellitus OMIM:612526
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Type II diabetes mellitus OMIM:615703
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... ORPHA:3077
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Obesity, Increased serum leptin, Insulin ... OMIM:617885
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus OMIM:613877
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
Acquired Partial Lipodystrophy
Insulin resistance ORPHA:79087
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Type I... OMIM:610947
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin resistance... OMIM:604367
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Placental Insufficiency
Insulin resistance, Abnormal heart morphology ORPHA:439167
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance OMIM:620639
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Delayed puberty, Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL choles... OMIM:616834
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Abnormal ci... ORPHA:2298
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp... OMIM:246700
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Diabetes mellitus OMIM:615980
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia OMIM:600649
Congenital Disorder Of Glycosylation, Type Il
Failure to thrive, Hypocholesterolemia, Hypoalbuminemia, Lipodystrophy OMIM:608776
Mandibuloacral Dysplasia
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Hypercholesterolemia, Loss of subcutaneous a... ORPHA:2457
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hepatomegaly ORPHA:363400
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Increased intram... OMIM:151660
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Hypogonadism OMIM:614962
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Maternal diabetes, Hypertrophic cardiomyopathy, Splenomegaly, Insulin resistance, D... ORPHA:79083
Potocki-Lupski Syndrome
Hypothyroidism, Failure to thrive, Hypocholesterolemia, Small for gestational age OMIM:610883
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Decreased circulatin... ORPHA:95717
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elbow flexion contracture, Elevated circulating met... OMIM:618156
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hypoglycemia OMIM:618838
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Diabetes mellitus, Hepatomegaly OMIM:615381
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Insulin resistance, Diabetes mellitus ORPHA:2348
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Abnormal circulating... ORPHA:95716
Seckel Syndrome 10
Glucose intolerance, Ventricular hypertrophy, Impaired glucose tolerance, Glycosuria, Insulin res... OMIM:617253
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec... ORPHA:860
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Hypertrophic cardiomyopathy, Insulin resistance, Diabetes mellitus ORPHA:528
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Recurrent hypoglycemia, Impaired gluco... OMIM:212140
Maternal Uniparental Disomy Of Chromosome 4
Diabetes insipidus, Decreased body weight, Elevated circulating creatine kinase concentration, Hy... ORPHA:96180
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Mody
Large for gestational age, Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, H... ORPHA:552
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypoglycemia, Hypertrophic cardiomyopathy OMIM:614702
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance OMIM:214150
Hemochromatosis, Type 1
Hepatomegaly, Glucose intolerance, Cardiomyopathy, Splenomegaly, Cardiomegaly, Diabetes mellitus OMIM:235200
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Hypothermia OMIM:615026
Alg12-Cdg
Abnormal adipose tissue morphology, Camptodactyly, Failure to thrive, Hyponatremia, Recurrent hyp... ORPHA:79324
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Hyperinsulinemia, Decreased serum leptin, Reduced subcutaneous adipose tiss... OMIM:608594
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Failure to thrive, Steatorrhea, Hypocholesterol... OMIM:266510
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp... OMIM:262190
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Acquired Generalized Lipodystrophy
Hepatomegaly, Hyperinsulinemia, Cardiomyopathy, Insulin resistance, Insulin-resistant diabetes me... ORPHA:79086
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Hyperinsulinemia, Decreased serum leptin, Reduced subcutaneous adipose tiss... OMIM:269700
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hypergonadotropic hypogonadism, Hypot... OMIM:212065
Familial Multiple Lipomatosis
Insulin resistance, Abnormal tricuspid valve morphology ORPHA:199276
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia ORPHA:73272
Rabson-Mendenhall Syndrome
Atrial septal defect, Fasting hypoglycemia, Enlarged ovaries, Cardiomyopathy, Impaired glucose to... ORPHA:769
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Confusion, Restlessnes... ORPHA:100924
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Short Syndrome
Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:269880
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Hypoglycemia, Ventricular septal defect OMIM:601005
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Impaired sensitivity... ORPHA:90673
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Hypoth... ORPHA:226313
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Steatorrhea, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Long-Olsen-Distelmaier Syndrome
Secundum atrial septal defect, Cardiomegaly, Hypoglycemia, Ventricular septal defect, Dilated car... OMIM:620609
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Increased circulatin... ORPHA:226316
Whipple Disease
Myocarditis, Hepatomegaly, Pericarditis, Splenomegaly, Insulin resistance ORPHA:3452
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Ventricular septal hypertrophy OMIM:619322
Monosomy 13Q34
Pulmonic stenosis, Insulin resistance, Common atrium ORPHA:96168
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Hypothermia, Hypercholesterolemia, Pituitary hypothy... ORPHA:90674
Short Syndrome
Insulin resistance, Diabetes mellitus ORPHA:3163
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia, Splenomegaly, Hepatomegaly OMIM:613327
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:269920
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... OMIM:300280
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hypoglycemia, Hepatomegaly ORPHA:42
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia OMIM:610006
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Hypocholesterolemia ORPHA:71
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Dilated cardiomyopathy, Diabetes mellitus OMIM:616541
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia ORPHA:230
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperglycemi... OMIM:615812
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:201475
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Lipoatrophy, Hyperinsulinemia, Generalized lipody... ORPHA:79474
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia ORPHA:813
Abetalipoproteinemia
Steatorrhea, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperbilirubinemia, Ab... ORPHA:14
Werner Syndrome
Insulin resistance, Type II diabetes mellitus ORPHA:902
Attrv122I Amyloidosis
Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos... ORPHA:85451
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypertaurinemia, Hypothermia, Failure to thrive, Hypoglycemia, Hyperglycinemia OMIM:245400
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypoglycemia, Hypertrophic cardiomyopathy ORPHA:391428
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Keppen-Lubinsky Syndrome
Generalized lipodystrophy, Decreased serum leptin, Lack of facial subcutaneous fat, Absence of su... OMIM:614098
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Hypoketotic hypoglycemia OMIM:255120
Neuraminidase Deficiency
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... ORPHA:226307
Carnitine-Acylcarnitine Translocase Deficiency
Hypothermia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Decreased circulating carnitine conc... ORPHA:159
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Abnormal heart morphology, Fasting hypoglycemia ORPHA:96182
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Bardet-Biedl Syndrome 1
Insulin resistance, Diabetes mellitus, Left ventricular hypertrophy OMIM:209900
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomyopathy, Hyperglycemia, Splenomegaly, Cardiomegaly, Diabetes mellitus ORPHA:465508
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Failure to thrive, Decreased serum leptin, Flexion contracture OMIM:614008
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Leprechaunism
Enlarged kidney, Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Hypertrophic cardiomyopath... ORPHA:508
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Aromatase Deficiency
Insulin resistance, Type II diabetes mellitus, Enlarged polycystic ovaries ORPHA:91
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Hypothermia, In... OMIM:218700
N-Acetylglutamate Synthase Deficiency
Hypothermia, Hyperglutamatemia, Hyperalaninemia, Failure to thrive, Hyperammonemia, Low plasma ci... OMIM:237310
Rett Syndrome
Increased serum leptin, Failure to thrive, Increased serum pyruvate, Hyperammonemia ORPHA:778
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance ORPHA:90153
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance ORPHA:90154
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... ORPHA:90363
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Dubowitz Syndrome
Hypocholesterolemia, Inguinal hernia OMIM:223370
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro... ORPHA:324410
Gitelman Syndrome
Maternal diabetes, Pericardial effusion, Type II diabetes mellitus, Diabetic ketoacidosis, Insuli... ORPHA:358
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypothermia, Hypoketotic hypoglycemia, Hypocalcemia, Hypoproteinemia, Elevated circulating creati... ORPHA:26793
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:616897
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial ... OMIM:261740
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Nonketotic hypoglycemia, Cardiomegaly, Hypoglycemia, Dilated cardi... OMIM:608836
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Cardiomegaly, Hypoglycemia, Ventricular septal defect, Dilated cardiomyopathy OMIM:614921
Bloom Syndrome
Insulin resistance, Diabetes mellitus ORPHA:125
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca... ORPHA:57777
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... ORPHA:363705
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Hepatomegaly, Pulmonic stenosis, Hepatosplenomegaly, Splenomegaly, Mitral v... OMIM:602782
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hypoketotic hypoglycemia, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly ORPHA:228308
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Smith-Lemli-Opitz Syndrome
Precocious puberty, Failure to thrive, Elevated circulating 7-dehydrocholesterol concentration, H... OMIM:270400
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia, Hyperalaninemia, Failure to thrive, Hypoalbuminemia, Hypoglycemia OMIM:618329
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Pituitary adenoma, Abnormal fear-induced behavior OMIM:219090
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Glucose intolerance, Impaired glucose tolerance OMIM:606721
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus ORPHA:96191
Mogs-Cdg
Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atrial septal defect ORPHA:79330
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia, Hyperbilirubinemia, Failure to thrive, Elevated circulating alpha-fetoprotein concen... OMIM:251880
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Steinert Myotonic Dystrophy
Insulin resistance, Diabetes mellitus, Hyperinsulinemia, Dilated cardiomyopathy ORPHA:273
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Pubertal developmental failure in females, Decreased serum leptin, Dela... ORPHA:740
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Bardet-Biedl Syndrome
Impaired fasting glucose, Cardiomyopathy, Abnormal heart morphology, Type II diabetes mellitus, I... ORPHA:110
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Gaucher Disease, Perinatal Lethal
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:608013
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:308552
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:603903
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Car... OMIM:130650
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Histiocytoid Cardiomyopathy
Cardiomegaly, Hypoglycemia, Hepatomegaly, Ventricular septal defect ORPHA:137675
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Hepatomegaly, Abnormal mitral valve morphology, Abnormal myocar... ORPHA:581
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Fucosidosis
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:230000
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Maternal diab... OMIM:300855
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni... ORPHA:3384
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly OMIM:252500
Glycogen Storage Disease Ii
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:232300
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hypospadias, Emotional lability, Hyperactivity, Compulsive behavi... ORPHA:353281
Aicardi-Goutières Syndrome
Cardiomegaly, Diabetes mellitus, Hepatosplenomegaly, Hypertrophic cardiomyopathy ORPHA:51
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly OMIM:618278
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cardiomegaly, Patent foramen ovale OMIM:620371
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Enlarged kidney, Hepatomegaly, Visceromegaly, Hypertrophic cardiomyopathy,... ORPHA:116
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Glycogen Storage Disease Due To Acid Maltase Deficiency
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:365
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology ORPHA:97297
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Proteasome-Associated Autoinflammatory Syndrome 1
Cardiomegaly, Splenomegaly, Hepatomegaly, Impaired glucose tolerance OMIM:256040
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aggressive behavior, Hypospadias, Abnormal fear-induced behavior, Emotional lability, Hyperactivi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aggressive behavior, Hypospadias, Abnormal fear-induced behavior, Emotional lability, Hyperactivi... ORPHA:353277
Liver Disease, Severe Congenital
Left atrial enlargement, Hepatomegaly, Patent foramen ovale, Dilatation of the ventricular cavity... OMIM:619991
Autoinflammatory Disease, Systemic, With Vasculitis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:620376
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... ORPHA:75565
Williams Syndrome
Abnormal endocardium morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Pulmonic stenosis, Te... ORPHA:904
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Cardiomegaly, Atrial septal defect, Ventricular septal defect ORPHA:3472
Pmm2-Cdg
Hyperinsulinemia, Hypertrophic cardiomyopathy, Pericardial effusion, Pericarditis, Insulin resist... ORPHA:79318
Alström Syndrome
Hyperinsulinemia, Hepatomegaly, Myocardial fibrosis, Splenomegaly, Type II diabetes mellitus, Hep... ORPHA:64
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... OMIM:182250
Generalized Arterial Calcification Of Infancy
Cardiomegaly, Pericardial effusion, Ventricular hypertrophy, Myocardial calcification ORPHA:51608

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 Lnpep

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 Lnpep.

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

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
Lnpeptm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Lnpeptm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Lnpeptm211260(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors
Lnpeptm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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