Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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, complete penetrance Unc80em1(IMPC)Tcp HOM   Early adult 0.00
decreased body length Unc80em1(IMPC)Tcp HET Early adult 3.31×10-06
decreased exploration in new environment Unc80em1(IMPC)Tcp HET Early adult 1.70×10-13
decreased circulating chloride level Unc80em1(IMPC)Tcp HET Early adult 1.33×10-06
decreased circulating sodium level Unc80em1(IMPC)Tcp HET Early adult 2.94×10-07
enlarged lymph nodes Unc80em1(IMPC)Tcp HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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.

Eye Morphology

Images Ophthalmoscopy

103 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

6 Images

Gross Pathology and Tissue Collection

Images

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

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
Obstructive sleep apnea, 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
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in childhood, Central apnea, Respiratory insufficiency OMIM:611722
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Generalized hypotonia due to defect at the neuromusc... OMIM:254210
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Death in infancy OMIM:618235
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Irritability, Decreased serum creatinine OMIM:300539
Seizures, Benign Familial Infantile, 3
Apnea, Normal interictal EEG OMIM:607745
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Generalized hypotonia due to defect at the neuromusc... OMIM:605809
Seizures, Benign Familial Infantile, 1
Apnea, Normal interictal EEG OMIM:601764
Myasthenic Syndrome, Congenital, 16
Fatigable weakness, Apnea OMIM:614198
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Respiratory insufficiency OMIM:618222
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:613090
Bronchopulmonary Dysplasia
Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system physiology, Dyspnea, Cou... ORPHA:70589
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Stridor ORPHA:137935
Ravine Syndrome
Apnea, Abnormal auditory evoked potentials ORPHA:99852
Central Diabetes Insipidus
Hyponatremia, Anxiety ORPHA:178029
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Epilepsy, Early-Onset, Vitamin B6-Dependent
Apnea, Respiratory insufficiency OMIM:617290
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:602522
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Apathy, Hyponatremia, Abnormal circulating po... ORPHA:100924
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy, Hypsarrhythmia ORPHA:500545
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea OMIM:615228
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, EEG abnormality, Central hypoventilation, Respiratory insufficiency OMIM:300673
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency OMIM:617239
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Anxiety ORPHA:83601
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory failure, Respiratory insufficiency OMIM:610127
Benign Familial Neonatal Epilepsy
Focal EEG discharges with secondary generalization, Apnea, Increased theta frequency activity in EEG ORPHA:1949
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea OMIM:616277
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Recurrent tonsillitis, Hyponatremia, Increased circulating renin level ORPHA:171876
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Joubert Syndrome 23
Apnea, Tachypnea OMIM:616490
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, EEG with burst suppression, Neonatal respiratory distress, Respirator... ORPHA:168486
Joubert Syndrome 33
Apnea OMIM:617767
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Increased circulating renin level, Emotional lability, Hypokalemia, Hypochloremia, ... ORPHA:89938
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Hyperkalemia ORPHA:682
Pontocerebellar Hypoplasia Type 4
Respiratory failure requiring assisted ventilation, Central apnea ORPHA:166063
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Benign Familial Infantile Epilepsy
Apnea, Normal interictal EEG, Interictal epileptiform activity ORPHA:306
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Death in infancy OMIM:617248
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Death in infancy, Neonatal respi... OMIM:610921
Pontocerebellar Hypoplasia, Type 6
Apnea, Death in childhood OMIM:611523
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Cardiorespiratory arrest, Bronchospasm, Abnormal pattern of respiration, Stridor OMIM:608800
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyponatremia, Hyperuricemia OMIM:613845
Bartter Syndrome, Type 1, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hypokalemia, Hypercalcemia, ... OMIM:601678
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Legionnaires Disease
Hyponatremia, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:549
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:31824
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Respiratory insufficiency OMIM:614462
Cholera
Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Irritability ORPHA:173
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Snakebite Envenomation
Hyponatremia ORPHA:449285
Hyperekplexia 3
Apnea OMIM:614618
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea OMIM:618225
Classic Glucose Transporter Type 1 Deficiency Syndrome
EEG abnormality, Central apnea ORPHA:71277
Whipple Disease
Mediastinal lymphadenopathy, Hyponatremia, Splenomegaly ORPHA:3452
Auriculocondylar Syndrome 2
Apnea, Snoring OMIM:614669
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency OMIM:618198
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea, Death in infancy OMIM:614498
Bartter Syndrome, Type 2, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hypokalemia, Hypochloremia, ... OMIM:241200
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Irritability OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Hypernatremia, Irritability OMIM:304800
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Hyponatremia, Hyperuricemia, Elevated circulating creatine kinase co... ORPHA:94093
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy, EEG with burst suppression, Hypsarrhythmia OMIM:301058
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Porphyria Variegata
Abnormal circulating porphyrin concentration, Hyponatremia, Anxiety ORPHA:79473
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Respiratory failure, Central hypoventilation OMIM:618233
Mirage Syndrome
Hyperkalemia, Hypoplastic spleen, Hyponatremia OMIM:617053
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Respiratory insufficiency OMIM:618226
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Joubert Syndrome 30
Apnea, Tachypnea OMIM:617622
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Dementia, Hyponatremia, Hypertrigl... ORPHA:167
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Wolcott-Rallison Syndrome
Hyperammonemia, Hyperbilirubinemia, Hyponatremia, Hypoalbuminemia ORPHA:1667
Myotonia, Potassium-Aggravated
Apneic episodes in infancy, Stridor OMIM:608390
Nemaline Myopathy 2
Apnea, Respiratory insufficiency due to muscle weakness OMIM:256030
Glutamine Deficiency, Congenital
Apnea, Neonatal death, Neonatal respiratory distress OMIM:610015
Acute Intermittent Porphyria
Memory impairment, Hyponatremia, Mental deterioration, Anxiety ORPHA:79276
Infant Botulism
Hyponatremia ORPHA:178478
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Aspiration pneumonia, Episodic tachypnea, Interictal EEG abnormality ORPHA:79264
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Necrotizing Enterocolitis
Hyponatremia ORPHA:391673
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Neonatal respiratory distress, Asth... ORPHA:2257
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea OMIM:300864
Joubert Syndrome 7
Tachypnea, Episodic tachypnea, Central apnea, Neonatal breathing dysregulation OMIM:611560
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Psychomotor deterioration, Hyponatremia, Hypertriglyceridemia, Hypersplenis... ORPHA:275761
Kcnq2-Related Epileptic Encephalopathy
Apnea, EEG with burst suppression, Hypsarrhythmia ORPHA:439218
Granulomatous Slack Skin
Hypercalcemia, Abnormality of the lymph nodes ORPHA:33111
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia ORPHA:90794
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea OMIM:619048
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hyponatremia, Hypokalemia, Irritability, Unconjuga... ORPHA:90038
Atypical Rett Syndrome
Episodic tachypnea, EEG abnormality, Sudden episodic apnea, Abnormal pattern of respiration ORPHA:3095
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:90791
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia ORPHA:361
Shigellosis
Splenic abscess, Hyponatremia, Abnormal blood ion concentration ORPHA:810
Leigh Syndrome With Leukodystrophy
Apnea ORPHA:255241
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea ORPHA:320385
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Respiratory distress, Aspiration pneumonia, EEG abnormality, Recurrent pn... ORPHA:314655
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Acute Adrenal Insufficiency
Hyponatremia, Hyperuricemia, Increased circulating renin level, Hypercalcemia, Hyperkalemia ORPHA:95409
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea OMIM:615031
Larsen-Like Syndrome, Lethal Type
Neonatal death, Tracheomalacia, Respiratory insufficiency OMIM:245650
Pyruvate Carboxylase Deficiency
Apathy, Hypernatremia, Hypoglutaminemia, Increased level of L-glutamic acid in blood, Increased s... ORPHA:3008
Addison Disease
Hyponatremia, Hyperuricemia, Increased circulating renin level, Hypercalcemia, Thymoma, Hyperkalemia ORPHA:85138
Gaucher Disease, Type Ii
Apnea, Recurrent aspiration pneumonia OMIM:230900
Japanese Encephalitis
Cognitive impairment, Hyponatremia ORPHA:79139
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Adenohypophysitis
Hyponatremia ORPHA:95512
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, EEG abnormality OMIM:261680
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia ORPHA:293978
Pseudo-Torch Syndrome 3
Apnea, Death in infancy, Respiratory insufficiency OMIM:618886
Congenital Myasthenic Syndrome
Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, EEG with polyspike wav... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, EEG with polyspike wav... ORPHA:98914
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
D-2-Hydroxyglutaric Aciduria 1
Apnea, Inspiratory stridor OMIM:600721
Pituitary Apoplexy
Hyponatremia ORPHA:95613
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Holoprosencephaly
Cognitive impairment, Abnormality of the spleen, Hyponatremia ORPHA:2162
Panhypophysitis
Hyponatremia ORPHA:95513
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Dyspnea, Hyperventilation OMIM:229700
Myasthenic Syndrome, Congenital, 20, Presynaptic
Apnea, Stridor, Hypoventilation OMIM:617143
Familial Dysautonomia
Hyponatremia ORPHA:1764
Hypophosphatasia, Infantile
Apnea, Death in infancy, Stillbirth OMIM:241500
Rett Syndrome
Intermittent hyperventilation, EEG abnormality, Apnea OMIM:312750
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Emotional lability, Hypokalemia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea OMIM:614883
Joubert Syndrome 3
Episodic tachypnea, Central apnea, Neonatal breathing dysregulation OMIM:608629
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Hypersplenism, Splenomegaly, Cognitive impairment, Hepatosplenomegaly, Increased se... ORPHA:731
48,Xxyy Syndrome
Apnea, Asthma ORPHA:10
Sheehan Syndrome
Hyponatremia ORPHA:91355
Cystinosis, Nephropathic
Decreased plasma carnitine, Progressive neurologic deterioration, Hypophosphatemic rickets, Hypon... OMIM:219800
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:168558
Illum Syndrome
Apnea OMIM:208155
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:289548
Pontocerebellar Hypoplasia, Type 7
Apnea OMIM:614969
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea ORPHA:137754
Hyperekplexia 1
Apnea, Aspiration OMIM:149400
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Auriculocondylar Syndrome 1
Apnea, Snoring OMIM:602483
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation OMIM:617903
Myoclonus, Intractable, Neonatal
Apnea OMIM:617235
Myotonia Fluctuans
Apnea, Stridor ORPHA:99734
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypercholesterolemia, Hypoammonemia, Self-injurious behavior, Hyponatremia, Hyp... ORPHA:534
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Self-injurious behavior, Hyponatremia, Emotional lability, Hyperlipidemia ORPHA:293987
Central Hypoventilation Syndrome, Congenital, 1
Apnea, Hypoventilation, Hypercapnia, Central hypoventilation, Hypoxemia OMIM:209880
Congenital Disorder Of Glycosylation, Type Ij
Apnea, Respiratory insufficiency OMIM:608093
Coach Syndrome 2
Apneic episodes in infancy OMIM:619111
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Wieacker-Wolff Syndrome
Apnea, Neonatal respiratory distress OMIM:314580
Pontocerebellar Hypoplasia Type 2
Apnea ORPHA:2524
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Hyponatremia ORPHA:544482
Hermansky-Pudlak Syndrome 10
Apnea, EEG abnormality OMIM:617050
Joubert Syndrome
Apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:475
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Apnea, Death in infancy OMIM:602613
Propionic Acidemia
Tachypnea, Apnea OMIM:606054
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Apnea OMIM:608809
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Sleep apnea, Central apnea OMIM:616482
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Intermittent hyper... ORPHA:348
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea, Death in childhood OMIM:214110
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory failure, Respiratory distress, Respiratory insufficiency OMIM:608836
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea OMIM:210200
Leigh Syndrome With Cardiomyopathy
Apnea, Respiratory failure, Respiratory distress, Central hypoventilation ORPHA:70474
Purine Nucleoside Phosphorylase Deficiency
Increased circulating guanosine concentration, Hypouricemia, Lymph node hypoplasia, Splenomegaly,... OMIM:613179
Infantile Neuroaxonal Dystrophy
Abnormality of peripheral nerve conduction, Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Fatal Familial Insomnia
Apnea OMIM:600072
Pancreatic And Cerebellar Agenesis
Apnea, Death in infancy OMIM:609069
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea ORPHA:2318
Joubert Syndrome With Renal Defect
Apnea, Abnormal pattern of respiration ORPHA:220497
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Apnea, Respiratory insufficiency OMIM:614653
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Apnea OMIM:618056
3-Hydroxy-3-Methylglutaric Aciduria
Tachypnea, EEG abnormality, Apnea, Hypsarrhythmia ORPHA:20
Marshall-Smith Syndrome
Apnea, Death in childhood, Pulmonary arterial hypertension, Recurrent aspiration pneumonia, Obstr... OMIM:602535
Joubert Syndrome With Ocular Defect
Apnea, Abnormal pattern of respiration ORPHA:220493
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
EEG with spike-wave complexes, EEG with series of focal spikes, Sleep apnea, Central apnea, EEG a... ORPHA:522077
Orofaciodigital Syndrome Xvi
Apnea OMIM:617563
Campomelic Dysplasia
Apnea, Tracheobronchomalacia, Respiratory distress OMIM:114290
Stuve-Wiedemann Syndrome
Pulmonary arterial hypertension, Apnea, Respiratory insufficiency OMIM:601559
Severe X-Linked Intellectual Disability, Gustavson Type
Apneic episodes in infancy ORPHA:3078
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Respiratory failure OMIM:617301
Gaucher Disease, Perinatal Lethal
Apnea, Respiratory distress OMIM:608013
Tenorio Syndrome
Apnea, Pneumonia OMIM:616260
Plaa-Associated Neurodevelopmental Disorder
Apnea, Respiratory insufficiency, Hypsarrhythmia ORPHA:521426
Bilateral Perisylvian Polymicrogyria
Apnea, EEG with frontal focal spikes, EEG with parietal focal spikes, EEG with central focal spik... ORPHA:98889
Biotinidase Deficiency
Tachypnea, Apnea OMIM:253260
Biotinidase Deficiency
Apnea, Respiratory distress, Hyperventilation ORPHA:79241
Joubert Syndrome 2
Episodic tachypnea, Central apnea, Neonatal breathing dysregulation OMIM:608091
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Arnold-Chiari Malformation Type Ii
Apnea, Inspiratory stridor, Pneumonia ORPHA:1136
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent aspiration pneumonia, Tachypnea, Chronic lung disease, Apnea ORPHA:397715
Aromatic L-Amino Acid Decarboxylase Deficiency
Apnea, Cardiorespiratory arrest OMIM:608643
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Episodic respiratory distress, Dyspnea, Hyperventilation ORPHA:255210
Joubert Syndrome 1
Episodic tachypnea, Central apnea, Neonatal breathing dysregulation OMIM:213300
Brachytelephalangic Chondrodysplasia Punctata
Respiratory failure requiring assisted ventilation, Central apnea, Neonatal respiratory distress,... ORPHA:79345
Mucopolysaccharidosis Type 1
Apnea, Cough, Sinusitis ORPHA:579
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Joubert Syndrome 21
Apnea, Dyspnea OMIM:615636
Hartsfield Syndrome
Hypernatremia OMIM:615465
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Genitopatellar Syndrome
Apnea ORPHA:85201
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Apnea, Respiratory insufficiency OMIM:617527
Alternating Hemiplegia Of Childhood
Apnea, Respiratory distress, Aspiration ORPHA:2131
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Apnea, Death in infancy, Respiratory insufficiency ORPHA:800
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Apnea ORPHA:395
Autosomal Recessive Spastic Paraplegia Type 77
Sudden episodic apnea ORPHA:466722
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea ORPHA:2754
Unilateral Polymicrogyria
Apnea, Giant somatosensory evoked potentials, Epistaxis ORPHA:268943
Osteopathia Striata With Cranial Sclerosis
Apnea, Tracheomalacia OMIM:300373
Xp21 Deletion Syndrome
Apneic episodes in infancy ORPHA:261476
Shprintzen-Goldberg Syndrome
Apnea ORPHA:2462
Bohring-Opitz Syndrome
Apnea, Obstructive sleep apnea ORPHA:97297
Slc39A8-Cdg
Sudden episodic apnea, Hypsarrhythmia ORPHA:468699
Joubert Syndrome With Hepatic Defect
Apnea, Abnormal pattern of respiration ORPHA:1454
Joubert Syndrome 5
Episodic tachypnea, Central apnea, Neonatal breathing dysregulation OMIM:610188
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Apnea, Respiratory distress ORPHA:17
Tarp Syndrome
Apnea ORPHA:2886
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Obstructive sleep apnea, Central apnea ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Obstructive sleep apnea, Central apnea ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Obstructive sleep apnea, Central apnea ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Obstructive sleep apnea, Central apnea ORPHA:177901
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Mosaic Variegated Aneuploidy Syndrome
Apnea ORPHA:1052
Prader-Willi-Like Syndrome
Obstructive sleep apnea, Central apnea ORPHA:398073
Diethylstilbestrol Syndrome
Central apnea ORPHA:1916
Stüve-Wiedemann Syndrome
Apnea, Asthma, Respiratory distress ORPHA:3206
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Apnea, Hypoventilation, Central sleep apnea, Aspiration pneumonia, Breathing dysregulation, Obstr... ORPHA:438213
Wolfram Syndrome
Central apnea, Respiratory insufficiency ORPHA:3463
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Apnea, Chronic rhinitis ORPHA:667
Semilobar Holoprosencephaly
Chronic lung disease, Aspiration pneumonia, Central apnea, Abnormal pattern of respiration ORPHA:220386
Alobar Holoprosencephaly
Chronic lung disease, Aspiration pneumonia, Central apnea, Abnormal pattern of respiration ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Chronic lung disease, Aspiration pneumonia, Central apnea, Abnormal pattern of respiration ORPHA:93926
Lobar Holoprosencephaly
Chronic lung disease, Aspiration pneumonia, Central apnea, Abnormal pattern of respiration ORPHA:93924
Hypermobile Ehlers-Danlos Syndrome
Apnea, Decreased nerve conduction velocity ORPHA:285
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Obstructive sleep apnea, EEG abnormality ORPHA:371364
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Exertional dyspnea, Respiratory failure requiring assisted ventilation, Apn... ORPHA:99125
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.

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MGI Allele Allele Type Produced
Unc80tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Unc80em1(IMPC)Tcp Exon Deletion Mice

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