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Gene: Loxl2 MGI:2137913

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Gene Summary

Name:
lysyl oxidase-like 2
Synonyms:
1110004B06Rik,  9430067E15Rik

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
preweaning lethality, incomplete penetrance Loxl2em1(IMPC)H HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

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 Loxl2 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 Loxl2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Diffuse palmoplantar hyperkeratosis, Acrocyanosis ORPHA:86918
Tricuspid Atresia
Hypoplasia of right ventricle, Cyanosis, Patent foramen ovale, Ventricular septal defect, Transpo... ORPHA:1209
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Cyanosis OMIM:613977
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Perching Syndrome
Cyanosis OMIM:617055
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Cyanosis ORPHA:91130
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Cyanosis, Hepatomegaly, Chylopericardium, Pulmonic stenosis ORPHA:2414
Asbestos Intoxication
Cor pulmonale, Oxygen desaturation on exertion, Cyanosis, Malignant mesothelioma, Lung adenocarci... ORPHA:2302
Breath-Holding Spells
Cyanosis OMIM:607578
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Polysplenia, Mitral atresia, Atrioventricular canal defe... OMIM:616749
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Acquired Purpura Fulminans
Hepatic failure, Macular purpura, Neoplasm, Skin rash, Acrocyanosis ORPHA:49566
Congenital Tricuspid Valve Dysplasia
Cyanosis, Patent foramen ovale, Abnormal tricuspid valve annulus morphology, Cardiomegaly, Tricus... ORPHA:555874
Laryngotracheal Angioma
Facial hemangioma, Cyanosis ORPHA:137935
Criss-Cross Heart
Mitral stenosis, Cyanosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposi... ORPHA:1461
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Arthritis, Acrocyanosis ORPHA:3165
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Phosphoserine Aminotransferase Deficiency
Cyanotic episode OMIM:610992
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Cyanosis, Patent foramen ovale, Cardiomegaly, Atrial septal d... ORPHA:439
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Cyanosis OMIM:263000
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Recurrent otitis media, Tetralogy of Fallot, Cyanosis, Overriding aorta, Double outlet right vent... ORPHA:3304
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Congenital Heart Block
Pericardial effusion, Endocardial fibroelastosis, Cyanosis, Patent foramen ovale ORPHA:60041
Congenital Fibrinogen Deficiency
Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Left ventricular hypertrophy, Splenic... ORPHA:335
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Cyanosis, Elevated circulatin... OMIM:261680
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Aicardi-Goutieres Syndrome 1
Erythema, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chilblains, Pe... OMIM:225750
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Hypoplasia o... OMIM:212093
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Recurrent aphthous stomatitis, Peritonitis, Arthritis, Hepatomegaly, Acrocyanosis, Purp... ORPHA:343
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Eosinophilic Granulomatosis With Polyangiitis
Hypertrophic cardiomyopathy, Abnormal pericardium morphology, Cutis marmorata, Skin rash, Increas... ORPHA:183
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis OMIM:610773
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Cyanosis, Truncus arteriosus, Ventricular septal def... ORPHA:3426
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Infant Acute Respiratory Distress Syndrome
Pneumonia, Cyanosis, Hypoxemia ORPHA:70587
Fucosidosis
Vascular skin abnormality, Generalized hyperkeratosis, Abnormality of the gallbladder, Cardiomega... ORPHA:349
Primary Pulmonary Hypoplasia
Hypoxemia, Secundum atrial septal defect, Cyanosis, Dextrocardia ORPHA:2257
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly, Cyanosis ORPHA:391428
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Right ventricular hypertrophy, Cyanosis ORPHA:444013
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Recurrent pneumonia, Displacement of the papillary muscles, Abnormal... ORPHA:1329
Cleft Larynx, Posterior
Cyanosis OMIM:215800
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Acrocyanosis, Abnormal heart morphology ORPHA:1867
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Hypoxemia, Cyanosis OMIM:610910
Acute Interstitial Pneumonia
Pericardial effusion, Cyanosis, Hypoxemia, Bronchiectasis ORPHA:79126
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis, Bronchiectasis ORPHA:2032
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Cyanosi... ORPHA:159
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Cyanosis, Truncus arteriosus, Ventricular septal defect, Atrial septal defec... OMIM:617478
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Double Outlet Left Ventricle
Cyanosis, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atre... ORPHA:3427
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Cyanosis, Telangiectasia, Hypoxemia, Liver abscess ORPHA:2038
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Hypoxemia, Cyanosis, Pulmonary capillary hemangiomatosis ORPHA:199241
Cardiac Valvular Dysplasia 2
Central cyanosis, Bicuspid aortic valve, Subvalvular aortic stenosis, Dysplastic aortic valve, Pu... OMIM:620067
Sepsis In Premature Infants
Decreased liver function, Cyanosis, Petechiae, Splenomegaly, Enterocolitis, Hepatomegaly, Jaundic... ORPHA:90051
Necrotizing Enterocolitis
Abnormal heart morphology, Peritonitis, Cyanosis ORPHA:391673
Waardenburg Syndrome Type 3
Acrocyanosis, Atrial septal defect ORPHA:896
Dravet Syndrome
Cyanotic episode ORPHA:33069
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Congenital Tracheomalacia
Pneumonia, Abnormal heart morphology, Tetralogy of Fallot, Cyanosis, Ventricular septal defect, C... ORPHA:95430
Absence Of The Pulmonary Artery
Recurrent pneumonia, Abnormal heart morphology, Tetralogy of Fallot, Cyanosis, Patent foramen ova... ORPHA:980
Poems Syndrome
Pericardial effusion, Splenomegaly, Plethora, Hemangioma, Hepatomegaly, Lymphoproliferative disor... ORPHA:2905
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Aortic Arch Interruption
Abnormal heart morphology, Cyanosis, Ventricular septal defect, Truncus arteriosus, Bicuspid aort... ORPHA:2299
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Dermatomyositis
Erythema, Abnormal eosinophil morphology, Lung adenocarcinoma, Cutaneous photosensitivity, Heliot... ORPHA:221
Tetrasomy 5P
Cyanosis, Pericallosal lipoma ORPHA:3309
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Meckel Syndrome 14
Hepatic fibrosis, Cyanosis, Single ventricle OMIM:619879
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Choanal Atresia
Cyanosis, Chronic sinusitis ORPHA:137914
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Interstitial pneumonitis, Cyanosis, Nonspecific interstitial pneumonia, Hypo... OMIM:610913
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Gastrointestinal carcinoma, Juvenile gastrointestinal polyposis, Hepatic arteriovenous malformati... OMIM:175050
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Cyanosis, Unroofed coronary sinus, Right atrial enlargement, Right ventricular dilatat... ORPHA:99104
Surfactant Metabolism Dysfunction, Pulmonary, 3
Nonspecific interstitial pneumonia, Hypoxemia, Cyanosis, Neonatal death OMIM:610921
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Tetralogy of Fallot, Esophagitis, Cyanosis, Ventri... ORPHA:1199
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Cyanosis ORPHA:488627
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Neonatal death OMIM:265120
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Myositis, Hashimoto thyroiditis, Acrocyanosis ORPHA:589
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Double outlet right ventricle, Cyanosis ORPHA:2326
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly, P... OMIM:261740
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Palpable purpura, Cardio... ORPHA:48435
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Tetralogy of Fallot, Cyanosis, Ventricular septal defect, Aortopulmonary ... ORPHA:99050
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Spontaneous hematomas, Tongue telangiectasia, Retinal telangiect... ORPHA:774
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Cutis marmo... ORPHA:51
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Left atrial enlargement, Left ventricular hypertrophy, Right atrial enlargement, Right ... ORPHA:99106
Multiple Mitochondrial Dysfunctions Syndrome 7
Partial atrioventricular canal defect, Cyanosis, Decreased liver function OMIM:620423
Juvenile Polyposis Syndrome
Stomach cancer, Neoplasm of the gastrointestinal tract, Neoplasm of the pancreas, Juvenile gastro... ORPHA:2929
Pulmonary Alveolar Microlithiasis
Bronchiectasis, Oxygen desaturation on exertion, Cyanosis, Mitral valve calcification, Hepatomega... ORPHA:60025
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Cyanosis, Ventri... ORPHA:3384
Congenital Myasthenic Syndrome
Cyanosis ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98914
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatic failure, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Splenomegal... OMIM:252010
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Cyanosis, Ventricular septal defect ORPHA:137675
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Cyanosis, Abnormal mitral valve morphology, Right atrial enlargement, Right ventricula... ORPHA:99103
Eisenmenger Syndrome
Bacterial endocarditis, Abnormal heart morphology, Tetralogy of Fallot, Abnormality of the liver,... ORPHA:97214
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Cardiogenic Shock
Hepatomegaly, Cyanosis, Hypoxemia ORPHA:97292
Tarp Syndrome
Tetralogy of Fallot, Atrial septal defect, Cyanosis ORPHA:2886
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... OMIM:600376
Ethylene Glycol Poisoning
Gastritis, Cyanosis ORPHA:31826
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated circulating hepatic transaminase concentration, Ganglioneuroblastoma, Cyanosis, Ganglion... ORPHA:293987
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Premature skin wrinkl... ORPHA:740
Pitt-Hopkins Syndrome
Hodgkin lymphoma, Esophagitis, Acrocyanosis ORPHA:2896
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Hepatic ar... OMIM:187300
Unilateral Polymicrogyria
Abnormal heart morphology, Cyanosis ORPHA:268943
Familial Dysautonomia
Acrocyanosis, Abnormal peritoneum morphology ORPHA:1764
Congenital Tracheal Stenosis
Hypoplastic left heart, Cyanosis, Ventricular septal defect ORPHA:141127
Primary Hyperoxaluria
Cutis marmorata, Elevated circulating hepatic transaminase concentration, Acrocyanosis, Cardiomyo... ORPHA:416
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis OMIM:617239
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis OMIM:223900
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Conjunctival telangiectasia, Palate... OMIM:610655
Classical Ehlers-Danlos Syndrome
Poor wound healing, Bruising susceptibility, Mitral valve prolapse, Ecchymosis, Tricuspid valve p... ORPHA:287
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis OMIM:618426
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Cyanosis, Pancreatic calcification, Hepatic calcification, Cardiomegaly,... ORPHA:51608
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Goodpasture Syndrome
Cyanosis, Glomerulonephritis OMIM:233450
Hypermobile Ehlers-Danlos Syndrome
Bruising susceptibility, Mitral valve prolapse, Keratoconjunctivitis sicca, Osteoarthritis, Acroc... ORPHA:285
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis OMIM:303600

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 Loxl2

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 Loxl2.

No publications found that use IMPC mice or data for Loxl2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Loxl2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Loxl2em1(IMPC)H Exon Deletion Mice
Loxl2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Loxl2em2(IMPC)H Exon Deletion Mice
Loxl2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Loxl2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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