banner
Genes Phenotypes Help, News, Blog

Gene: Unc13a MGI:3051532

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
unc-13 homolog A
Synonyms:
Munc13-1,  2410078G03Rik

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 Unc13a 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.

The table below shows human diseases associated to Unc13a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Motor neuron atrophy, Dysphagia, Fatigable weakness of bulbar musc... ORPHA:803

The table below shows human diseases predicted to be associated to Unc13a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Pyknoachondrogenesis
Stillbirth OMIM:265880
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... OMIM:619290
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Cardiomyopathy, Dilated, 2H
Tachypnea, Neonatal death OMIM:620203
Tropical Calcific Pancreatitis
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... OMIM:608189
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth, Dysphagia OMIM:619751
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan... OMIM:167800
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... ORPHA:552
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... ORPHA:139507
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Tachypnea OMIM:620085
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... OMIM:260370
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar... OMIM:615363
Atypical Rett Syndrome
Restrictive behavior, Bruxism, Inappropriate laughter, Sudden episodic apnea, Episodic tachypnea,... ORPHA:3095
Recurrent Respiratory Papillomatosis
Respiratory distress, Choking episodes, Tachypnea, Dysphagia ORPHA:60032
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea OMIM:267450
Joubert Syndrome 7
Episodic tachypnea, Tachypnea, Central apnea OMIM:611560
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gallbladder, Biliary ... OMIM:615710
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 1
Tachypnea, Apnea, Death in infancy, Neonatal death OMIM:265120
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Aggressive behavior, Tachypnea, Anorexia OMIM:237310
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Anorexia ORPHA:79242
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Apnea, Dysphagia, Episodic tachypnea ORPHA:79264
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Tachypnea OMIM:616414
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea, Dysphagia ORPHA:163961
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea, Death in infancy OMIM:614299
High Altitude Pulmonary Edema
Tachypnea, Anorexia ORPHA:330012
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroid... ORPHA:64744
Acute Lung Injury
Respiratory distress, Addictive alcohol use, Tachypnea ORPHA:178320
Chronic Pneumonitis Of Infancy
Respiratory distress, Tachypnea, Intercostal retractions ORPHA:91359
Joubert Syndrome 9
Episodic tachypnea, Apnea OMIM:612285
Tetanus
Respiratory distress, Tachypnea, Dysphagia ORPHA:3299
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Tachypnea, Death in childhood, Death in infancy OMIM:613320
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachypnea ORPHA:264675
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Tachypnea, Degeneration of anterior horn cells OMIM:604320
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Tachypnea, Death in childhood OMIM:615838
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea OMIM:610921
Infant Acute Respiratory Distress Syndrome
Tachypnea, Nasal flaring ORPHA:70587
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
Multifocal Atrial Tachycardia
Tachypnea ORPHA:3282
Propionic Acidemia
Tachypnea, Apnea OMIM:606054
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Addictive alcohol use, Tachypnea ORPHA:36238
Citrullinemia Type I
Tachypnea ORPHA:247525
Joubert Syndrome 3
Episodic tachypnea, Central apnea OMIM:608629
Cardiocranial Syndrome, Pfeiffer Type
Episodic tachypnea ORPHA:2872
Pyruvate Dehydrogenase Deficiency
Tachypnea ORPHA:765
Beta-Ketothiolase Deficiency
Tachypnea, Agitation, Oral aversion, Anorexia ORPHA:134
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Tachypnea, Death in infancy OMIM:201475
Avian Influenza
Respiratory distress, Tachypnea, Miscarriage ORPHA:454836
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea OMIM:614857
Surfactant Metabolism Dysfunction, Pulmonary, 4
Tachypnea OMIM:300770
Primary Pulmonary Hypoplasia
Tachypnea, Apnea ORPHA:2257
Serotonin Syndrome
Tachypnea, Restlessness, Agitation ORPHA:43116
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Tachypnea OMIM:610978
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea ORPHA:2318
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Tachypnea ORPHA:26793
3-Hydroxy-3-Methylglutaric Aciduria
Tachypnea, Apnea, Anorexia ORPHA:20
Joubert Syndrome 1
Episodic tachypnea, Self-mutilation, Aggressive behavior, Central apnea, Hyperactivity OMIM:213300
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea ORPHA:542323
Acute Interstitial Pneumonia
Tachypnea ORPHA:79126
Hyperparathyroidism, Neonatal Severe
Tachypnea, Polydipsia OMIM:239200
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Apneic episodes in infancy ORPHA:348
Sting-Associated Vasculopathy, Infantile-Onset
Tachypnea OMIM:615934
Congenitally Uncorrected Transposition Of The Great Arteries
Tachypnea ORPHA:860
Rh Deficiency Syndrome
Tachypnea, Miscarriage ORPHA:71275
Cholera
Tachypnea, Miscarriage ORPHA:173
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Recurrent hand flapping, Tachypnea, Anorexia, Compulsive behaviors ORPHA:3008
Biotinidase Deficiency
Tachypnea, Apnea OMIM:253260
Joubert Syndrome
Episodic tachypnea, Apnea ORPHA:475
Brachytelephalangic Chondrodysplasia Punctata
Tachypnea, Central apnea ORPHA:79345
Ethylene Glycol Poisoning
Addictive alcohol use, Tachypnea, Episodic respiratory distress ORPHA:31826
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Double Outlet Right Ventricle
Tachypnea ORPHA:3426
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Tachypnea ORPHA:217563
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Apnea ORPHA:397715
Holocarboxylase Synthetase Deficiency
Tachypnea OMIM:253270
Bacterial Toxic-Shock Syndrome
Respiratory distress, Tachypnea ORPHA:36234
Coronary Arterial Fistula
Tachypnea ORPHA:2041
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Tachypnea OMIM:610913
Joubert Syndrome 2
Episodic tachypnea, Central apnea OMIM:608091
Complete Atrioventricular Septal Defect
Tachypnea, Intercostal retractions ORPHA:1329
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea OMIM:615751
Cocaine Intoxication
Respiratory distress, Tachypnea, Agitation ORPHA:90068
Joubert Syndrome 5
Aggressive behavior, Central apnea, Episodic tachypnea OMIM:610188
Pulmonary Alveolar Microlithiasis
Tachypnea, Fatigable weakness ORPHA:60025
Orofaciodigital Syndrome Type 6
Episodic tachypnea, Apnea ORPHA:2754
Congenital Tricuspid Valve Dysplasia
Tachypnea ORPHA:555874
Arima Syndrome
Tachypnea, Polydipsia OMIM:243910
Smooth Muscle Dysfunction Syndrome
Tachypnea OMIM:613834
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Death in childhood OMIM:618278
Malignant Hyperthermia Of Anesthesia
Tachypnea ORPHA:423
Atrial Septal Defect, Ostium Primum Type
Tachypnea ORPHA:99106
Scorpion Envenomation
Tachypnea, Restlessness ORPHA:466677
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea ORPHA:415
Histiocytoid Cardiomyopathy
Tachypnea ORPHA:137675
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tachypnea, Dysphagia, Death in infancy OMIM:220111
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea OMIM:613658
Double Outlet Left Ventricle
Tachypnea ORPHA:3427
Aortic Arch Interruption
Respiratory distress, Tachypnea ORPHA:2299
Exercise-Induced Malignant Hyperthermia
Tachypnea ORPHA:466650
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Motor neuron atrophy, Dysphagia, Fatigable weakness of bulbar musc... ORPHA:803
Truncus Arteriosus
Tachypnea ORPHA:3384
Goodpasture Syndrome
Tachypnea OMIM:233450

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 Unc13a

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 Unc13a.

No publications found that use IMPC mice or data for Unc13a.

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
Unc13atm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter