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Gene: Unc80 MGI:2652882

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Gene Summary

Name:
unc-80, NALCN activator
Synonyms:
C030018G13Rik,  C230061B10Rik

Order Alleles

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
enlarged lymph nodes Unc80em1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, complete penetrance Unc80em1(IMPC)Tcp HOM   Early adult 0.00
decreased body length Unc80em1(IMPC)Tcp HET Early adult 3.85×10-06
decreased exploration in new environment Unc80em1(IMPC)Tcp HET Early adult 1.77×10-13
decreased circulating chloride level Unc80em1(IMPC)Tcp HET Early adult 1.09×10-07
decreased circulating sodium level Unc80em1(IMPC)Tcp HET Early adult 6.03×10-08

Download data as:  TSV  XLS

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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.

Eye Morphology

Images Ophthalmoscopy

103 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

6 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Human diseases caused by Unc80 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 Unc80 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
EEG abnormality ORPHA:371364
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
OMIM:616801

The table below shows human diseases predicted to be associated to Unc80 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Apnea OMIM:607745
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Seizures, Benign Familial Infantile, 1
Normal interictal EEG, Apnea OMIM:601764
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea OMIM:615228
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Confusion, Depression, Cognitive impairment, Memory impairment ORPHA:163921
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... OMIM:300539
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:214700
Severe Neonatal-Onset Encephalopathy With Microcephaly
EEG with focal slow activity, Apnea, Multifocal epileptiform discharges, Respiratory insufficiency ORPHA:209370
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Myasthenic Syndrome, Congenital, 16
Fatigable weakness, Apnea OMIM:614198
Benign Familial Neonatal-Infantile Seizures
Continuous spike and waves during slow sleep, EEG with focal spikes, Apnea ORPHA:140927
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Phosphoserine Aminotransferase Deficiency
Death in infancy, Apnea OMIM:610992
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:613090
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Central Diabetes Insipidus
Hyponatremia, Depression ORPHA:178029
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Benign Familial Neonatal Epilepsy
Apnea, Increased theta frequency activity in EEG, Focal EEG discharges with secondary generalization ORPHA:1949
Ravine Syndrome
Apnea, Abnormal auditory evoked potentials ORPHA:99852
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
EEG abnormality, Apnea, Central hypoventilation, Respiratory insufficiency OMIM:300673
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Confusion, Abnormal circulating porphyrin concentration, Abnormal fear-induced beha... ORPHA:100924
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy, Hypsarrhythmia ORPHA:500545
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... OMIM:265120
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
EEG with burst suppression, Apnea, Respiratory insufficiency OMIM:617290
Pontocerebellar Hypoplasia Type 4
Central apnea, Respiratory failure requiring assisted ventilation ORPHA:166063
Benign Familial Infantile Epilepsy
Normal interictal EEG, Apnea, Interictal epileptiform activity ORPHA:306
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Multifocal epileptiform discharges, Hypsarrhythmia, EEG with general... ORPHA:79097
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Emot... ORPHA:89938
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L... OMIM:603553
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:602522
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Recurrent tonsillitis, Increased circulating renin level ORPHA:171876
Congenital Neuronal Ceroid Lipofuscinosis
EEG with burst suppression, Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia ORPHA:199296
Developmental And Epileptic Encephalopathy 90
EEG with burst suppression, Apneic episodes in infancy, Hypsarrhythmia OMIM:301058
Developmental And Epileptic Encephalopathy 61
Apnea OMIM:617933
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Death in childhood OMIM:618225
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Confusion, Depression ORPHA:83601
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Mitochondrial Complex I Deficiency, Nuclear Type 13
Death in infancy, Apnea OMIM:618235
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia OMIM:614736
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, EEG abnormality ORPHA:71277
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Pontocerebellar Hypoplasia, Type 6
Apnea, Death in childhood OMIM:611523
Joubert Syndrome 33
Apnea OMIM:617767
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency OMIM:618198
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... ORPHA:2257
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea, Fatigable weakness OMIM:617143
Cholera
Hyponatremia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalcemia ORPHA:173
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
EEG with burst suppression, Apnea, Death in infancy OMIM:614498
Mitochondrial Complex I Deficiency, Nuclear Type 6
Apnea, Respiratory insufficiency OMIM:618228
Whipple Disease
Splenomegaly, Mediastinal lymphadenopathy, Hyponatremia, Depression ORPHA:3452
Glutamine Deficiency, Congenital
Neonatal death, Neonatal respiratory distress, Apnea OMIM:610015
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Legionnaires Disease
Hyponatremia, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:549
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Abnormal pattern of respiration OMIM:608800
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Myoclonus, Intractable, Neonatal
Apnea OMIM:617235
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Snakebite Envenomation
Hyponatremia ORPHA:449285
Congenital Myopathy 11
Neonatal respiratory distress, Apneic episodes in infancy OMIM:619967
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia OMIM:608688
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea OMIM:619048
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... OMIM:241200
Developmental And Epileptic Encephalopathy 99
Central apnea, Multifocal epileptiform discharges OMIM:619606
D-2-Hydroxyglutaric Aciduria 1
Apnea, Inspiratory stridor, Hypsarrhythmia OMIM:600721
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... OMIM:619751
Kcnq2-Related Epileptic Encephalopathy
EEG with burst suppression, Apnea, Hypsarrhythmia ORPHA:439218
Combined Oxidative Phosphorylation Deficiency 57
Neonatal death, Death in infancy, Apnea, Central hypoventilation OMIM:620167
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Respiratory insufficiency OMIM:618226
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Irritability, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Irritability, Hypernatremia OMIM:304800
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Atypical Rett Syndrome
EEG abnormality, Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:3095
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea ORPHA:320385
Alg8-Cdg
Hyponatremia ORPHA:79325
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Joubert Syndrome 7
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:611560
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea OMIM:615031
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Nemaline Myopathy 2
Respiratory insufficiency due to muscle weakness, Apnea OMIM:256030
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea OMIM:619797
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, EEG abnormality, Aspiration pn... ORPHA:314655
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Mirage Syndrome
Hyponatremia, Hypoplastic spleen, Hyperkalemia OMIM:617053
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Apnea, Hyperventilation OMIM:229700
Hyperekplexia 3
Respiratory arrest, Apnea OMIM:614618
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Acute Intermittent Porphyria
Hyponatremia, Confusion, Depression, Mental deterioration, Memory impairment ORPHA:79276
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia OMIM:617913
Mitochondrial Complex I Deficiency, Nuclear Type 33
Respiratory insufficiency, Apnea, Bronchiectasis, Aspiration pneumonia OMIM:618253
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Hypochloremia ORPHA:90794
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea OMIM:614883
Chédiak-Higashi Syndrome
Hyponatremia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L... ORPHA:167
Congenital Disorder Of Glycosylation, Type Ij
Apnea, Respiratory insufficiency, Hypsarrhythmia OMIM:608093
Infant Botulism
Hyponatremia ORPHA:178478
Pseudo-Torch Syndrome 3
Death in infancy, Apnea, Respiratory insufficiency OMIM:618886
Pontocerebellar Hypoplasia, Type 16
Apnea OMIM:619527
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia ORPHA:97362
Congenital Tracheomalacia
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... ORPHA:95430
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
EEG abnormality, Apnea OMIM:261680
Lysosomal Acid Lipase Deficiency
Hyponatremia, Psychomotor deterioration, Hypertriglyceridemia, Hypersplenism, Hyperkalemia, Hepat... ORPHA:275761
Rett Syndrome
EEG abnormality, Apnea, Intermittent hyperventilation OMIM:312750
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Apnea, EEG with generalized slow activity OMIM:300055
Necrotizing Enterocolitis
Hyponatremia ORPHA:391673
Granulomatous Slack Skin
Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia ORPHA:199299
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea ORPHA:137754
48,Xxyy Syndrome
Asthma, Apnea ORPHA:10
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Irritability, Hypokalemia, Unconjuga... ORPHA:90038
Illum Syndrome
Apnea OMIM:208155
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:90791
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... OMIM:615751
Developmental And Epileptic Encephalopathy 101
Apnea OMIM:619814
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Pontocerebellar Hypoplasia Type 2
Apnea ORPHA:2524
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Hypophosphatasia, Infantile
Death in infancy, Stillbirth, Apnea OMIM:241500
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Pituitary Apoplexy
Hyponatremia, Confusion ORPHA:95613
Familial Glucocorticoid Deficiency
Hyponatremia, Hyperkalemia ORPHA:361
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Cognitive impairment, Elevated circulating creatine kinase concentration, Hyperammo... OMIM:610505
Joubert Syndrome 3
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608629
Shigellosis
Hyponatremia, Splenic abscess, Abnormal blood ion concentration ORPHA:810
Congenital Myasthenic Syndrome
EEG with polyspike wave complexes, Sudden episodic apnea, Intermittent episodes of respiratory in... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
EEG with polyspike wave complexes, Sudden episodic apnea, Intermittent episodes of respiratory in... ORPHA:98914
Myotonia Fluctuans
Stridor, Apnea ORPHA:99734
Propionic Acidemia
Tachypnea, Apnea OMIM:606054
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation OMIM:617903
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Respiratory insufficiency OMIM:614462
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia ORPHA:95409
Coach Syndrome 2
Apneic episodes in infancy OMIM:619111
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Japanese Encephalitis
Hyponatremia, Cognitive impairment ORPHA:79139
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea OMIM:314580
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apneic episodes in infancy, Apnea, Hypercapnia, Respiratory insufficiency OMIM:618222
Adenohypophysitis
Hyponatremia ORPHA:95512
Auriculocondylar Syndrome 1
Apnea OMIM:602483
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation OMIM:209880
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Cystinosis, Nephropathic
Hyponatremia, Progressive neurologic deterioration, Splenomegaly, Reduced blood urea nitrogen, Hy... OMIM:219800
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea OMIM:612949
Panhypophysitis
Hyponatremia ORPHA:95513
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency, Fatigable weakness of skeletal muscles OMIM:617239
Addison Disease
Hyponatremia, Hypercalcemia, Hyperkalemia, Thymoma, Increased circulating renin level, Hyperuricemia ORPHA:85138
Gaucher Disease, Type Ii
Death in infancy, Apnea, Stridor, Cough, Recurrent aspiration pneumonia OMIM:230900
Holoprosencephaly
Hyponatremia, Abnormality of the spleen, Cognitive impairment ORPHA:2162
Joubert Syndrome
Apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:475
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... OMIM:618426
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Hermansky-Pudlak Syndrome 10
EEG abnormality, Apnea OMIM:617050
Familial Dysautonomia
Hyponatremia ORPHA:1764
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... OMIM:616482
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... OMIM:608836
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Abnormality of peripheral nerve conduction, Aspiration pneumonia ORPHA:35069
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Hyperkalemia ORPHA:293978
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... ORPHA:289548
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea, Death in childhood OMIM:214110
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Neonatal death OMIM:608013
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr... ORPHA:731
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... ORPHA:3008
Fatal Familial Insomnia
Apnea OMIM:600072
Sheehan Syndrome
Hyponatremia ORPHA:91355
Mogs-Cdg
Respiratory distress, Absent brainstem auditory responses, Apnea, Hypoventilation ORPHA:79330
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea OMIM:210200
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Depression, Hypokalemia, Attention deficit hyperactivity disorder, H... ORPHA:534
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest OMIM:617248
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea ORPHA:2318
Joubert Syndrome With Renal Defect
Apnea, Abnormal pattern of respiration ORPHA:220497
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
3-Hydroxy-3-Methylglutaric Aciduria
EEG abnormality, Tachypnea, Apnea, Hypsarrhythmia ORPHA:20
Orofaciodigital Syndrome Xvi
Apnea OMIM:617563
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea ORPHA:79644
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Central apnea OMIM:615157
Joubert Syndrome With Ocular Defect
Apnea, Abnormal pattern of respiration ORPHA:220493
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Hyperkalemia, Depression, Emotional lability ORPHA:293987
Liver Disease, Severe Congenital
Hyponatremia, Short attention span, Elevated circulating alpha-fetoprotein concentration, Splenom... OMIM:619991
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
Plaa-Associated Neurodevelopmental Disorder
Apnea, Respiratory insufficiency, Hypsarrhythmia ORPHA:521426
Tenorio Syndrome
Recurrent pneumonia, Apnea OMIM:616260
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Severe X-Linked Intellectual Disability, Gustavson Type
Apneic episodes in infancy ORPHA:3078
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... OMIM:602450
Pontocerebellar Hypoplasia, Type 7
Apnea OMIM:614969
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Stridor, Aspiration, Neonatal respiratory distress, Apnea OMIM:614653
Bilateral Perisylvian Polymicrogyria
EEG with polyspike wave complexes, EEG with parietal focal spikes, EEG with frontal focal spikes,... ORPHA:98889
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Biotinidase Deficiency
Tachypnea, Apnea OMIM:253260
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Aromatic L-Amino Acid Decarboxylase Deficiency
Apnea, Cardiorespiratory arrest OMIM:608643
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Apnea OMIM:618056
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea OMIM:619580
Alternating Hemiplegia Of Childhood
Respiratory distress, EEG abnormality, Apnea, Aspiration ORPHA:2131
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, EEG with focal sharp waves, EEG abnormality, EEG with series of focal spikes, EEG ... ORPHA:522077
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Increased circulating guanosine concentration, Splenomegaly, Lymph node hypoplasia,... OMIM:613179
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Apnea, Recurrent aspiration pneumonia, Chronic lung disease ORPHA:397715
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Apnea, Respiratory insufficiency, Death in infancy OMIM:601559
Joubert Syndrome With Hepatic Defect
Apnea, Abnormal pattern of respiration ORPHA:1454
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, EEG with burst suppression, Pleural effusion, Apnea OMIM:261740
Glass Syndrome
Apnea OMIM:612313
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Apnea, Respiratory insufficiency OMIM:617527
Marshall-Smith Syndrome
Apnea, Stridor, Aspiration pneumonia, Death in childhood, Pulmonary arterial hypertension, Recurr... OMIM:602535
Mucopolysaccharidosis Type 1
Sinusitis, Apnea, Cough ORPHA:579
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation ORPHA:255210
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea ORPHA:2754
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Genitopatellar Syndrome
Apnea ORPHA:85201
Autosomal Recessive Spastic Paraplegia Type 77
Sudden episodic apnea ORPHA:466722
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:252010
Joubert Syndrome 2
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608091
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Apnea ORPHA:395
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Apnea, Respiratory insufficiency, Death in infancy ORPHA:800
Pancreatic And Cerebellar Agenesis
Death in infancy, Apnea OMIM:609069
Joubert Syndrome 21
Dyspnea, Respiratory failure, Chronic sinusitis, Apnea OMIM:615636
Intellectual Developmental Disorder, Autosomal Dominant 54
Apnea, Hyperventilation OMIM:617799
Joubert Syndrome 1
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:213300
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Splenomegaly, Lymp... OMIM:619381
Unilateral Polymicrogyria
Epistaxis, Giant somatosensory evoked potentials, Apnea ORPHA:268943
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea ORPHA:17
Xp21 Deletion Syndrome
Apneic episodes in infancy ORPHA:261476
Shprintzen-Goldberg Syndrome
Apnea ORPHA:2462
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Apnea OMIM:300373
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Slc39A8-Cdg
Sudden episodic apnea, Hypsarrhythmia ORPHA:468699
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Stridor, Tracheomalacia, Tracheobronc... OMIM:114290
Tarp Syndrome
Apnea ORPHA:2886
Ogden Syndrome
Aspiration, Apnea, Pulmonary arterial hypertension, Restrictive ventilatory defect OMIM:300855
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hyperkalemia, Decreased circulating renin level OMIM:201750
Joubert Syndrome 5
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:610188
Mosaic Variegated Aneuploidy Syndrome
Apnea ORPHA:1052
Bohring-Opitz Syndrome
Apnea ORPHA:97297
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea ORPHA:177901
Diethylstilbestrol Syndrome
Central apnea ORPHA:1916
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Apnea, Chronic rhinitis ORPHA:667
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea ORPHA:3206
Hartsfield Syndrome
Hypernatremia OMIM:615465
Wolfram Syndrome
Central apnea, Respiratory insufficiency ORPHA:3463
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Neonatal respiratory distress, Apnea, Asthma, EEG abnormality, Aspiration OMIM:619503
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Aspiration pneumonia, Breathing dysregulation ORPHA:438213
Semilobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93924
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Apnea ORPHA:285
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... ORPHA:99125
Pallister-Killian Syndrome
Stillbirth, Apneic episodes in infancy, Hyperventilation OMIM:601803
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
EEG abnormality ORPHA:371364
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
OMIM:616801

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 Unc80

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 Unc80.

No publications found that use IMPC mice or data for Unc80.

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
Unc80tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Unc80tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Unc80em1(IMPC)Tcp Exon Deletion Mice

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