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Gene: Unc13a MGI:3051532

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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:
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, Fatigable weakness of swallowing muscles, Abnormal respiratory sys... 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
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
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
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis 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
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Pyknoachondrogenesis
Stillbirth OMIM:265880
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries, Hepatocellular adenoma OMIM:142330
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Mahvash Disease
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Cholesterol Pneumonia
Pneumonia, Death in infancy, Cough, Tachypnea OMIM:215030
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Tachypnea, ... ORPHA:60032
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Dysphagia, Pulmonary arterial hyperte... OMIM:619751
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... OMIM:608189
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Diabetes mellitus, Pancre... OMIM:167800
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-... ORPHA:103918
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Acute infectious pneumonia, Respiratory failure requiring assiste... ORPHA:264675
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Decreased DLCO, Cough, Tachypnea, Restrictive ventilatory defect, Dyspnea OMIM:616414
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dyspnea, Pulmo... OMIM:265120
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... ORPHA:139507
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Cough, Tachypnea OMIM:263000
Chronic Pneumonitis Of Infancy
Respiratory distress, Reduced forced vital capacity, Cough, Intercostal retractions, Tachypnea, H... ORPHA:91359
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Hypoxemia, Neonatal death, Tachypnea, Cough, Death in infancy, Neona... OMIM:610921
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Decreased DLCO, Ta... OMIM:300770
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia, Exocrine pancreatic insufficien... OMIM:260370
Joubert Syndrome 23
Apnea, Tachypnea OMIM:616490
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Reduced for... OMIM:610913
Avian Influenza
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productiv... ORPHA:454836
Joubert Syndrome 7
Neonatal breathing dysregulation, Central apnea, Episodic tachypnea, Tachypnea OMIM:611560
Acute Lung Injury
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:178320
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Degeneration of anterior horn cells, Tachypnea, Inspiratory stridor, Ventilator dependence with i... OMIM:604320
Primary Pulmonary Hypoplasia
Apnea, Asthma, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictive ventilatory defect, Ne... ORPHA:2257
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Asthma, Hypoxemia, Crackles, Wheezing, Tac... OMIM:610978
Joubert Syndrome 30
Apnea, Tachypnea OMIM:617622
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Infant Acute Respiratory Distress Syndrome
Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dysphagia, Episodic tachypnea, Apneic episodes in infancy ORPHA:163961
Acute Interstitial Pneumonia
Hypoxemia, Nonproductive cough, Crackles, Decreased DLCO, Tachypnea, Pleural effusion, Bronchiect... ORPHA:79126
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Chronic lung disease, Tachypnea, Spontaneous neonatal pneumothorax, Neo... ORPHA:217563
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Juvenile Neuronal Ceroid Lipofuscinosis
Dysphagia, Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Pancreatic fi... ORPHA:64744
Multiple Carboxylase Deficiency
Respiratory distress, Tachypnea ORPHA:148
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Death in childhood, Respiratory failure, Tachypnea OMIM:615838
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Tetanus
Dysphagia, Respiratory distress, Tachypnea ORPHA:3299
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Nonproductive cough, Respiratory insufficiency, Fatigable weakne... ORPHA:60025
Atypical Rett Syndrome
Abnormal pattern of respiration, Sudden episodic apnea, Episodic tachypnea ORPHA:3095
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Joubert Syndrome 3
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea OMIM:608629
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Death in infancy, Respiratory arrest, Tachypnea OMIM:201475
Pyruvate Dehydrogenase Deficiency
Dyspnea, Tachypnea ORPHA:765
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Tachypnea OMIM:613320
Citrullinemia Type I
Tachypnea ORPHA:247525
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Tachypnea OMIM:614857
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tachypnea OMIM:220111
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
Propionic Acidemia
Apnea, Tachypnea OMIM:606054
Cardiocranial Syndrome, Pfeiffer Type
Episodic tachypnea ORPHA:2872
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Respiratory failure, Pleural effusion, Tachypnea ORPHA:542323
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Dyspnea, Intermittent hyper... ORPHA:348
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Crackles, Elevated pulmonary artery pressure, Wheezing, Tachypnea,... ORPHA:1329
Coronary Arterial Fistula
Exertional dyspnea, Pulmonary arterial hypertension, Orthopnea, Tachypnea ORPHA:2041
Beta-Ketothiolase Deficiency
Oral aversion, Cough, Tachypnea ORPHA:134
Hyperparathyroidism, Neonatal Severe
Dyspnea, Polydipsia, Tachypnea OMIM:239200
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Pneumonia, Tachypnea ORPHA:26793
Joubert Syndrome With Oculorenal Defect
Apnea, Tachypnea ORPHA:2318
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea OMIM:615751
Brachytelephalangic Chondrodysplasia Punctata
Asthma, Central apnea, Respiratory failure requiring assisted ventilation, Tachypnea, Neonatal re... ORPHA:79345
Cholera
Aspiration pneumonia, Miscarriage, Hyperventilation, Tachypnea ORPHA:173
Holocarboxylase Synthetase Deficiency
Hyperventilation, Tachypnea OMIM:253270
Rh Deficiency Syndrome
Hypoxemia, Miscarriage, Tachypnea ORPHA:71275
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Tachypnea ORPHA:860
Joubert Syndrome
Apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:475
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea ORPHA:555874
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Abnormal respiratory system physiology, Tachypnea, Exertional dyspnea, Dyspne... ORPHA:99106
Sting-Associated Vasculopathy, Infantile-Onset
Tachypnea OMIM:615934
Biotinidase Deficiency
Apnea, Tachypnea OMIM:253260
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Tachypnea ORPHA:36234
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Recurrent aspiration pneumonia, Chronic lung disease, Tachypnea ORPHA:397715
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Prostatitis, Abnormality of the thyroid gland, Sialadenitis, Xerost... ORPHA:449432
Double Outlet Right Ventricle
Tachypnea ORPHA:3426
Serotonin Syndrome
Tachypnea ORPHA:43116
Cocaine Intoxication
Respiratory distress, Wheezing, Cough, Tachypnea, Hyperventilation, Pneumothorax ORPHA:90068
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory insufficiency, Death in childhood, Respiratory failure, Tachypnea OMIM:618278
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Episodic respiratory distress, Tachypnea ORPHA:31826
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Tachypnea ORPHA:20
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Fatigable weakness of swallowing muscles, Abnormal respiratory sys... ORPHA:803
Joubert Syndrome 2
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea OMIM:608091
Joubert Syndrome 1
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea OMIM:213300
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Tachypnea OMIM:613834
Malignant Hyperthermia Of Anesthesia
Hypercapnia, Tachypnea ORPHA:423
Pyruvate Carboxylase Deficiency
Abnormal pattern of respiration, Tachypnea ORPHA:3008
Arima Syndrome
Dyspnea, Tachypnea OMIM:243910
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea ORPHA:2754
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Cough, Tachypnea, Emphysema, Respiratory failure OMIM:613658
Histiocytoid Cardiomyopathy
Cough, Tachypnea ORPHA:137675
Joubert Syndrome 5
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea OMIM:610188
Goodpasture Syndrome
Increased DLCO, Crackles, Tachypnea, Cough, Restrictive ventilatory defect, Exertional dyspnea OMIM:233450
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea ORPHA:415
Scorpion Envenomation
Abnormal nasal mucus secretion, Tachypnea ORPHA:466677
Aortic Arch Interruption
Respiratory distress, Exertional dyspnea, Tachypnea ORPHA:2299
Exercise-Induced Malignant Hyperthermia
Crackles, Hypocapnia, Tachypnea ORPHA:466650
Orofaciodigital Syndrome Type 2
Apnea, Tachypnea ORPHA:2751
Truncus Arteriosus
Tachypnea ORPHA:3384

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.

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

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