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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
increased circulating amylase level Loxl2em1(IMPC)H HET Early adult 8.17×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Diffuse palmoplantar hyperkeratosis, Acrocyanosis ORPHA:86918
Tricuspid Atresia
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great ar... 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
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
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
Levotransposition of the great arteries, Hepatomegaly, Cyanosis, Ventricular septal defect, Abnor... ORPHA:860
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Cyanosis, Splenomegaly, Chylopericardium, Pulmonic stenosis ORPHA:2414
Breath-Holding Spells
Cyanosis OMIM:607578
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ... OMIM:616749
Acquired Purpura Fulminans
Skin rash, Neoplasm, Macular purpura, Hepatic failure, Acrocyanosis ORPHA:49566
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Asbestos Intoxication
Cyanosis, Cor pulmonale, Myocardial fibrosis, Hypoxemia, Oxygen desaturation on exertion, Maligna... ORPHA:2302
Criss-Cross Heart
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul... ORPHA:1461
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis, Acrocyanosis ORPHA:3165
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Ab... ORPHA:555874
Phosphoserine Aminotransferase Deficiency
Cyanotic episode OMIM:610992
Laryngotracheal Angioma
Cyanosis, Facial hemangioma ORPHA:137935
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Isolated Right Ventricular Hypoplasia
Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Pate... ORPHA:439
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Cor pulmonale OMIM:263000
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Cyanosis, Overriding aorta, Pulmonic stenosis, Recurrent otitis media, Doub... ORPHA:3304
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Congenital Fibrinogen Deficiency
Cyanosis, Splenic rupture, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneous he... ORPHA:335
Congenital Heart Block
Pericardial effusion, Cyanosis, Patent foramen ovale, Endocardial fibroelastosis ORPHA:60041
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Cyanosis, Elevated circulating alanine aminotransferase concentration, Increased he... OMIM:261680
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Cardiac Valvular Dysplasia 1
Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmon... OMIM:212093
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Erythema, Urticaria, Arthritis, Recurrent aphthous stomatitis, Acrocya... ORPHA:343
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis OMIM:610773
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Buerger Disease
Acrocyanosis ORPHA:36258
Double Outlet Right Ventricle
Cyanosis, Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmo... ORPHA:3426
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Cutis marmorata, Abnormal perica... ORPHA:183
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis, Pneumonia ORPHA:70587
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy ORPHA:444013
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Chilblains, Splenomegaly, Erythema, Cardiomyopathy, ... OMIM:225750
Fucosidosis
Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Vascular skin abnormality, Acrocyanos... ORPHA:349
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly ORPHA:391428
Complete Atrioventricular Septal Defect
Hepatomegaly, Cyanosis, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia... ORPHA:1329
Primary Pulmonary Hypoplasia
Hypoxemia, Secundum atrial septal defect, Cyanosis, Dextrocardia ORPHA:2257
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia, Abnormal heart morphology ORPHA:1867
Acute Interstitial Pneumonia
Hypoxemia, Pericardial effusion, Cyanosis, Bronchiectasis ORPHA:79126
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Cardiomyopathy, Hepatic failure ORPHA:159
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial septal def... OMIM:617478
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Bicuspid pulmona... ORPHA:3427
Pulmonary Arteriovenous Malformation
Cyanosis, Liver abscess, Telangiectasia, Hypoxemia, Bacterial endocarditis ORPHA:2038
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis, Pneumonia OMIM:610910
Sepsis In Premature Infants
Hepatomegaly, Cyanosis, Splenomegaly, Jaundice, Enterocolitis, Decreased liver function, Petechia... ORPHA:90051
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Central cyanosis, Pulmonic stenosis, Subvalvular aortic stenosis, Dysplast... OMIM:620067
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Pulmonary capillary hemangiomatosis, Pericardial effusion, Cyanosis ORPHA:199241
Waardenburg Syndrome Type 3
Atrial septal defect, Acrocyanosis ORPHA:896
Dravet Syndrome
Cyanotic episode ORPHA:33069
Absence Of The Pulmonary Artery
Cyanosis, Cardiomegaly, Recurrent pneumonia, Bronchiectasis, Abnormal heart morphology, Abnormal ... ORPHA:980
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Gastrointestinal stroma... ORPHA:221
Aortic Arch Interruption
Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Aortic valve atresia, Double outlet r... ORPHA:2299
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Congenital Tracheomalacia
Cyanosis, Ventricular septal defect, Pneumonia, Cardiomegaly, Partial anomalous pulmonary venous ... ORPHA:95430
Tetrasomy 5P
Pericallosal lipoma, Cyanosis ORPHA:3309
Meckel Syndrome 14
Cyanosis, Hepatic fibrosis, Single ventricle OMIM:619879
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Cyanosis, Pneumonia, Anomalous pulmonary venous return, Right ventricula... ORPHA:99104
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Choanal Atresia
Cyanosis, Chronic sinusitis ORPHA:137914
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Nonspecific interstitial pneumonia, Recurrent pneumonia, Bronchiectasis, Hypoxemia, Int... OMIM:610913
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Nonspecific interstitial pneumonia, Neonatal death, Cyanosis OMIM:610921
Myasthenia Gravis
Myositis, Hepatitis, Rheumatoid arthritis, Acrocyanosis, Hashimoto thyroiditis ORPHA:589
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Cyanosis ORPHA:488627
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Cyanosis OMIM:265120
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Double outlet right ventricle, Cyanosis ORPHA:2326
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Ventricular septal defect, Aortopulmonary window, Hypoplastic left heart, Transposition... ORPHA:99050
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula... OMIM:261740
Aicardi-Goutières Syndrome
Enchondroma, Elevated hepatic transaminase, Myositis, Cutis marmorata, Chilblains, Cardiomegaly, ... ORPHA:51
Esophageal Atresia
Cyanosis, Barrett esophagus, Ventricular septal defect, Esophagitis, Tetralogy of Fallot ORPHA:1199
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Poems Syndrome
Pericardial effusion, Hemangioma, Acrocyanosis, Lymphoproliferative disorder ORPHA:2905
Truncus Arteriosus
Cyanosis, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal hear... ORPHA:3384
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Mitral valve prolapse, Hamartomatous polyposis, Telangiectas... OMIM:175050
Congenital Myasthenic Syndrome
Cyanosis ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98914
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Left atrial enlargement, Right ventricular dilatation, Left ventricular hypertrophy, Ri... ORPHA:99106
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Mitral valve calcification, Cyanosis, Bronchiectasis, Hypoxemia, Oxygen desaturatio... ORPHA:60025
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Cyanosis, Splenomegaly, Concentric hypertrophic cardiomyopathy, Hypertrophic cardio... OMIM:252010
Histiocytoid Cardiomyopathy
Hepatomegaly, Cyanosis, Ventricular septal defect, Cardiomegaly ORPHA:137675
Eisenmenger Syndrome
Hepatomegaly, Cyanosis, Ventricular septal defect, Aortopulmonary window, Hypoxemia, Abnormal hea... ORPHA:97214
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Cyanosis, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Cardiome... ORPHA:99125
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Pneumonia, Right ventricular dilatation, Abnormal mitral valve morphology, Right atrial... ORPHA:99103
Tarp Syndrome
Atrial septal defect, Cyanosis, Tetralogy of Fallot ORPHA:2886
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Hepatic arteriovenous malformation, Cyanosis, Nail bed telangiectasi... OMIM:600376
Ethylene Glycol Poisoning
Cyanosis, Gastritis ORPHA:31826
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Prominent superficial blood vessels, Cyanosis, Mitral stenosis, Mitral v... ORPHA:740
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Cyanosis, Ganglioneuroblastoma, Infectious encephalitis, Ganglione... ORPHA:293987
Pitt-Hopkins Syndrome
Esophagitis, Acrocyanosis, Hodgkin lymphoma ORPHA:2896
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Hepatic arteriovenous malformation, Cyanosis, Telangiectasia of the ... OMIM:187300
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Unilateral Polymicrogyria
Cyanosis, Abnormal heart morphology ORPHA:268943
Congenital Tracheal Stenosis
Ventricular septal defect, Cyanosis, Hypoplastic left heart ORPHA:141127
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Juvenile gastrointestinal polyposis, Juvenile colonic polyposis, Viscer... ORPHA:2929
Familial Dysautonomia
Abnormal peritoneum morphology, Acrocyanosis ORPHA:1764
Primary Hyperoxaluria
Elevated hepatic transaminase, Cardiomyopathy, Acrocyanosis, Cutis marmorata 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
Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Nasal mucosa te... OMIM:610655
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Osteoarthritis, Mitral valve prolapse, Tricuspid... ORPHA:287
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis OMIM:618426
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Cyanosis, Cardiomegaly, Pericardial effusion, Myocardial calcification, ... ORPHA:51608
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Goodpasture Syndrome
Cyanosis, Glomerulonephritis OMIM:233450
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata OMIM:303600
Hypermobile Ehlers-Danlos Syndrome
Keratoconjunctivitis sicca, Osteoarthritis, Acrocyanosis ORPHA:285

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

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
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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