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Gene: Ubl4a MGI:95049

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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:
ubiquitin-like 4A
Synonyms:
DXHXS254E,  Ubl4,  Gdx,  DXS254Eh

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 Ubl4a 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 Ubl4a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Obesity-Hypoventilation Syndrome
Cyanosis, Obesity OMIM:257500
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Cyanosis ORPHA:91130
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Breath-Holding Spells
Cyanosis OMIM:607578
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode OMIM:610992
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Perching Syndrome
Cyanosis OMIM:617055
Interstitial Pneumonitis, Desquamative, Familial
Failure to thrive, Cyanosis OMIM:263000
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Encephalopathy, Ethylmalonic
Acrocyanosis, Death in infancy, Failure to thrive, Petechiae OMIM:602473
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Hypoadrenocorticism, Familial
Cyanosis, Hypoglycemia OMIM:240200
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hereditary Methemoglobinemia
Cyanosis, Small for gestational age ORPHA:621
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Glucose intolerance, Failure to thrive, Impaired glucose tolerance OMIM:614407
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Death in infancy, Failure to thrive, Cyanosis OMIM:265120
Chronic Pneumonitis Of Infancy
Hypoxemia, Failure to thrive, Cyanosis ORPHA:91359
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Impaired gluconeogenesis, Cyanosis, Hypoglycemia, Fasting hypoglycemia OMIM:261680
Buerger Disease
Acrocyanosis ORPHA:36258
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Tricuspid Atresia
Cyanosis ORPHA:1209
Ethylmalonic Encephalopathy
Acrocyanosis, Failure to thrive, Petechiae ORPHA:51188
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis, Weight loss ORPHA:1302
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Small for gestational age, Maternal diabetes, Hypoxemia, Failure to thrive ORPHA:860
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Failure to thrive in infancy ORPHA:284417
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Eosinophilic Fasciitis
Acrocyanosis, Weight loss ORPHA:3165
Combined Oxidative Phosphorylation Defect Type 23
Failure to thrive, Cyanosis ORPHA:444013
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Congenital Pulmonary Lymphangiectasia
Cyanosis ORPHA:2414
Primary Pulmonary Hypoplasia
Hypoxemia, Failure to thrive, Cyanosis ORPHA:2257
Hsd10 Disease, Infantile Type
Cyanosis, Hypoglycemia ORPHA:391428
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Surfactant Metabolism Dysfunction, Pulmonary, 3
Death in infancy, Cyanosis, Hypoxemia, Neonatal death, Failure to thrive OMIM:610921
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis ORPHA:70587
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis, Weight loss ORPHA:747
Congenital Heart Block
Cyanosis ORPHA:60041
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Severe failure to thrive, Cyanosis ORPHA:3304
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Fasting hypoglycemia, Hypoketotic hypoglycemia ORPHA:159
Asbestos Intoxication
Hypoxemia, Cyanosis, Oxygen desaturation on exertion ORPHA:2302
Sepsis In Premature Infants
Cyanosis, Small for gestational age, Jaundice, Decreased body weight, Petechiae, Purpura ORPHA:90051
Dravet Syndrome
Cyanotic episode ORPHA:33069
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Tetrasomy 5P
Failure to thrive, Cyanosis ORPHA:3309
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Failure to thrive in infancy ORPHA:488627
Double Outlet Right Ventricle
Failure to thrive, Cyanosis ORPHA:3426
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Cyanosis, Small for gestational age ORPHA:555874
Acute Interstitial Pneumonia
Hypoxemia, Cyanosis ORPHA:79126
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Fucosidosis
Acrocyanosis, Failure to thrive, Vascular skin abnormality ORPHA:349
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in infancy, Failure to thrive, Cyanosis, Death in childhood OMIM:618426
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Failure to thrive, Cyanosis OMIM:610913
Aicardi-Goutieres Syndrome 1
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Choanal Atresia
Cyanosis ORPHA:137914
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Failure to thrive, Hypoglycemia, Cyanosis OMIM:252010
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Eosinophilic Granulomatosis With Polyangiitis
Cutis marmorata, Weight loss, Urticaria, Acrocyanosis, Purpura ORPHA:183
Criss-Cross Heart
Cyanosis ORPHA:1461
Pulmonary Arteriovenous Malformation
Hypoxemia, Cyanosis, Telangiectasia ORPHA:2038
Congenital Myasthenic Syndrome
Cyanosis ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98914
Poems Syndrome
Diabetes mellitus, Acrocyanosis, Weight loss ORPHA:2905
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis OMIM:617478
Esophageal Atresia
Cyanosis, Small for gestational age, Failure to thrive in infancy, Maternal diabetes ORPHA:1199
Complete Atrioventricular Septal Defect
Failure to thrive, Cyanosis ORPHA:1329
Double Outlet Left Ventricle
Failure to thrive, Cyanosis ORPHA:3427
Histiocytoid Cardiomyopathy
Failure to thrive, Hypoglycemia, Cyanosis ORPHA:137675
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Myasthenia Gravis
Acrocyanosis, Glycosuria ORPHA:589
Tarp Syndrome
Failure to thrive, Cyanosis ORPHA:2886
Atrial Septal Defect, Ostium Primum Type
Failure to thrive, Cyanosis ORPHA:99106
Meckel Syndrome 14
Cyanosis OMIM:619879
Pulmonary Alveolar Microlithiasis
Hypoxemia, Cyanosis, Oxygen desaturation on exertion, Weight loss ORPHA:60025
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Neonatal hypoglycemia OMIM:261740
Ethylene Glycol Poisoning
Cyanosis ORPHA:31826
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis OMIM:617239
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Failure to thrive, Cyanosis ORPHA:99050
Congenital Tracheomalacia
Failure to thrive, Cyanosis ORPHA:95430
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Insulin resistance, Weight loss, Severe failure to... ORPHA:740
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Misca... OMIM:187300
Primary Hyperoxaluria
Acrocyanosis, Failure to thrive, Cutis marmorata ORPHA:416
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Fingerpad telangiectases, Lip tel... OMIM:600376
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Nasal mucosa te... OMIM:610655
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperglycemia, Cyanosis, Obesity ORPHA:293987
Pitt-Hopkins Syndrome
Acrocyanosis, Failure to thrive ORPHA:2896
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Heterotaxy, Visceral, 1, X-Linked
Failure to thrive, Cyanosis OMIM:306955
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis OMIM:223900
Dermatomyositis
Telangiectasia of the skin, Erythema, Weight loss, Acrocyanosis, Cutaneous photosensitivity ORPHA:221
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Weight loss, Vasculitis in the skin, Acrocyanosis ORPHA:48435
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Atrial Septal Defect, Ostium Secundum Type
Cyanosis ORPHA:99103
Aicardi-Goutières Syndrome
Diabetes mellitus, Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice ORPHA:51
Absence Of The Pulmonary Artery
Cyanosis, Hypocapnia ORPHA:980
Unilateral Polymicrogyria
Cyanosis ORPHA:268943
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Congenital Tracheal Stenosis
Cyanosis ORPHA:141127
Aortic Arch Interruption
Cyanosis ORPHA:2299
Goodpasture Syndrome
Cyanosis, Weight loss OMIM:233450
Congenitally Corrected Transposition Of The Great Arteries
Failure to thrive, Cyanosis ORPHA:216694
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... ORPHA:287
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata, Decreased body weight OMIM:303600
Eisenmenger Syndrome
Hypoxemia, Cyanosis ORPHA:97214
Generalized Arterial Calcification Of Infancy
Cyanosis, Failure to thrive in infancy ORPHA:51608
Truncus Arteriosus
Cyanosis ORPHA:3384
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis ORPHA:285
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis ORPHA:99125

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 Ubl4a

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 Ubl4a.

No publications found that use IMPC mice or data for Ubl4a.

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MGI Allele Allele Type Produced
Ubl4atm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ubl4atm462125(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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