Gene Summary

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

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 2.82×10-05
enlarged lymph nodes Unc80em1(IMPC)Tcp HET Early adult 0.00
decreased exploration in new environment Unc80em1(IMPC)Tcp HET Early adult 1.70×10-13
decreased circulating sodium level Unc80em1(IMPC)Tcp HET Early adult 6.03×10-08
decreased circulating chloride level Unc80em1(IMPC)Tcp HET Early adult 1.09×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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

MicroCT E14.5-E15.5

Embryo reconstruction

6 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 Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body 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
EEG abnormality, Obstructive sleep apnea 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
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Death in infancy OMIM:618235
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
Seizures, Benign Familial Infantile, 3
Apnea, Normal interictal EEG OMIM:607745
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine, Irritability OMIM:300539
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Generalized hypotonia due to defect at the neuromuscular junction, Fatigabl... OMIM:254210
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Seizures, Benign Familial Infantile, 1
Apnea, Normal interictal EEG OMIM:601764
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Generalized hypotonia due to defect at the neuromuscular junction, Fatigabl... OMIM:605809
Myasthenic Syndrome, Congenital, 16
Apnea, Fatigable weakness OMIM:614198
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Anxiety, Memory impairment, Cognitive impairment ORPHA:163921
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Phosphoserine Aminotransferase Deficiency
Apnea, Death in infancy OMIM:610992
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory insufficiency, Respiratory failure OMIM:613869
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:613090
Laryngotracheal Angioma
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Central Diabetes Insipidus
Anxiety, Hyponatremia ORPHA:178029
Ravine Syndrome
Apnea, Abnormal auditory evoked potentials ORPHA:99852
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
Epilepsy, Early-Onset, Vitamin B6-Dependent
Apnea, Respiratory insufficiency OMIM:617290
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... OMIM:267700
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:602522
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Abnormal respiratory system physiology, Chronic lung disease, ... ORPHA:70589
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Porphyria Due To Ala Dehydratase Deficiency
Apathy, Abnormal fear/anxiety-related behavior, Increased erythrocyte protoporphyrin concentratio... ORPHA:100924
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
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Benign Familial Neonatal Epilepsy
Increased theta frequency activity in EEG, Apnea, Focal EEG discharges with secondary generalization ORPHA:1949
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anxiety, Hyponatremia ORPHA:83601
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea OMIM:615228
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Central hypoventilation, Apnea, Respiratory insufficiency, EEG abnormality OMIM:300673
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Emotional lability,... ORPHA:89938
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Splenomegaly, Hepatosplenomegaly, ... OMIM:603553
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level, Recurrent tonsillitis ORPHA:171876
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency OMIM:617239
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dyspnea, Pulmo... OMIM:265120
Joubert Syndrome 23
Apnea, Tachypnea OMIM:616490
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea OMIM:300864
Central Hypoventilation Syndrome, Congenital, 3
Central hypoventilation, Apnea, Respiratory failure OMIM:619483
Joubert Syndrome 33
Apnea OMIM:617767
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyponatremia, Hypokalemia ORPHA:682
Pontocerebellar Hypoplasia Type 4
Respiratory failure requiring assisted ventilation, Central apnea ORPHA:166063
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, EEG with burst suppression, Neonatal respiratory distress, Respirator... ORPHA:168486
Benign Familial Infantile Epilepsy
Apnea, Normal interictal EEG, Interictal epileptiform activity ORPHA:306
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Death in infancy OMIM:616277
Hereditary Coproporphyria
Abnormal circulating porphyrin concentration, Hyponatremia ORPHA:79273
Bartter Syndrome, Type 1, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... OMIM:601678
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Death in infancy OMIM:617248
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hypomagnesemia, Hyperuricemia OMIM:613845
Developmental And Epileptic Encephalopathy 61
Apnea OMIM:617933
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Hypsarrhythmia, Multifocal epileptiform discharges, EEG with general... ORPHA:79097
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Hypoxemia, Neonatal death, Tachypnea, Cough, Death in infancy, Neona... OMIM:610921
Legionnaires Disease
Bone marrow hypocellularity, Lymphadenopathy, Hyponatremia, Splenomegaly ORPHA:549
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Bronchospasm, Cardiorespiratory arrest, Abnormal pattern of respiration, Stridor OMIM:608800
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Cholera
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia, Irritability ORPHA:173
Pontocerebellar Hypoplasia, Type 6
Apnea, Death in childhood OMIM:611523
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... ORPHA:31824
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Snakebite Envenomation
Hyponatremia ORPHA:449285
Bartter Syndrome, Type 2, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Increased serum prostaglandin E2,... OMIM:241200
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Respiratory insufficiency OMIM:614462
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Pulmonary arterial hypertension, Stil... OMIM:619751
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Whipple Disease
Mediastinal lymphadenopathy, Hyponatremia, Splenomegaly ORPHA:3452
Hyperekplexia 3
Apnea OMIM:614618
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Irritability OMIM:125800
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Irritability OMIM:304800
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea OMIM:618225
Classic Glucose Transporter Type 1 Deficiency Syndrome
EEG abnormality, Central apnea ORPHA:71277
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Anxiety, Elevated circulating creatine kinase concentration, Hypern... ORPHA:94093
Auriculocondylar Syndrome 2
Apnea, Snoring OMIM:614669
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy, Hypsarrhythmia, EEG with burst suppression OMIM:301058
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Alg8-Cdg
Hyponatremia ORPHA:79325
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency OMIM:618198
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Porphyria Variegata
Abnormal circulating porphyrin concentration, Anxiety, Hyponatremia ORPHA:79473
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea, Death in infancy OMIM:614498
Mirage Syndrome
Hypoplastic spleen, Hyperkalemia, Hyponatremia OMIM:617053
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Mitochondrial Complex I Deficiency, Nuclear Type 10
Central hypoventilation, Apnea, Respiratory failure OMIM:618233
Myoclonus, Intractable, Neonatal
Apnea OMIM:617235
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Cognitive impairment, Splenomegaly... ORPHA:167
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Respiratory insufficiency OMIM:618226
Infant Botulism
Hyponatremia ORPHA:178478
Primary Pulmonary Hypoplasia
Apnea, Asthma, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictive ventilatory defect, Ne... ORPHA:2257
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Apnea, Neonatal death OMIM:610015
Joubert Syndrome 30
Apnea, Tachypnea OMIM:617622
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Acute Intermittent Porphyria
Mental deterioration, Hyponatremia, Anxiety, Memory impairment ORPHA:79276
Lysosomal Acid Lipase Deficiency
Cognitive impairment, Hepatosplenomegaly, Hypertriglyceridemia, Psychomotor deterioration, Hypona... ORPHA:275761
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hypochloremia, Hyponatremia ORPHA:90794
Nemaline Myopathy 2
Apnea, Respiratory insufficiency due to muscle weakness OMIM:256030
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Necrotizing Enterocolitis
Hyponatremia ORPHA:391673
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia, Apnea, Episodic tachypnea, Interictal EEG abnormality ORPHA:79264
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hypo... ORPHA:90038
Granulomatous Slack Skin
Hypercalcemia, Abnormality of the lymph nodes ORPHA:33111
Kcnq2-Related Epileptic Encephalopathy
Apnea, Hypsarrhythmia, EEG with burst suppression ORPHA:439218
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine... ORPHA:411634
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea OMIM:619048
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:90791
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia ORPHA:361
Developmental And Epileptic Encephalopathy 99
Multifocal epileptiform discharges, Central apnea OMIM:619606
Myopathy, Congenital, Nonprogressive
Neonatal respiratory distress, Apneic episodes in infancy OMIM:619967
Shigellosis
Splenic abscess, Abnormal blood ion concentration, Hyponatremia ORPHA:810
Atypical Rett Syndrome
Abnormal pattern of respiration, Sudden episodic apnea, EEG abnormality, Episodic tachypnea ORPHA:3095
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Neonatal death OMIM:601612
Acute Adrenal Insufficiency
Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia, Hyperkalemia ORPHA:95409
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Joubert Syndrome 7
Neonatal breathing dysregulation, Central apnea, Episodic tachypnea, Tachypnea OMIM:611560
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea ORPHA:320385
Leigh Syndrome With Leukodystrophy
Apnea ORPHA:255241
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Neonatal death, Tracheomalacia OMIM:245650
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Alg12-Cdg
Hypocholesterolemia, Hypoalbuminemia, Hyponatremia ORPHA:79324
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, EEG abnormality, Aspiration pneumonia, Recurrent pneumonia, Hypovent... ORPHA:314655
Japanese Encephalitis
Hyponatremia, Cognitive impairment ORPHA:79139
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea OMIM:615031
Cystinosis, Nephropathic
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Splenomegaly, Progressiv... OMIM:219800
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
D-2-Hydroxyglutaric Aciduria 1
Apnea, Inspiratory stridor OMIM:600721
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hyponatremia, Emotional lability, Hypercalcemia ORPHA:88673
Adenohypophysitis
Hyponatremia ORPHA:95512
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea OMIM:619797
Addison Disease
Thymoma, Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia, Hyperkalemia ORPHA:85138
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia ORPHA:293978
Pyruvate Carboxylase Deficiency
Apathy, Hyperlysinemia, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hypertaurinemi... ORPHA:3008
Gaucher Disease, Type Ii
Apnea, Recurrent aspiration pneumonia OMIM:230900
Holoprosencephaly
Abnormality of the spleen, Hyponatremia, Cognitive impairment ORPHA:2162
Congenital Tracheomalacia
Apnea, Tracheomalacia, Decreased peak expiratory flow, Respiratory insufficiency, Neonatal respir... ORPHA:95430
Pituitary Apoplexy
Hyponatremia ORPHA:95613
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Congenital Myasthenic Syndrome
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, EEG with polyspike wave c... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, EEG with polyspike wave c... ORPHA:98914
Panhypophysitis
Hyponatremia ORPHA:95513
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Apnea, Hyperventilation OMIM:229700
Rett Syndrome
Apnea, Intermittent hyperventilation, EEG abnormality OMIM:312750
Pseudo-Torch Syndrome 3
Apnea, Respiratory insufficiency, Death in infancy OMIM:618886
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Apnea, EEG with generalized slow activity OMIM:300055
Familial Dysautonomia
Hyponatremia ORPHA:1764
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Apnea, Hypoventilation OMIM:617143
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea OMIM:614883
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation OMIM:617903
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating... ORPHA:289548
Autosomal Recessive Polycystic Kidney Disease
Splenomegaly, Cognitive impairment, Hepatosplenomegaly, Hypersplenism, Hyponatremia, Increased se... ORPHA:731
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, EEG abnormality OMIM:261680
Sheehan Syndrome
Hyponatremia ORPHA:91355
Hypophosphatasia, Infantile
Apnea, Stillbirth, Death in infancy OMIM:241500
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
48,Xxyy Syndrome
Apnea, Asthma ORPHA:10
Auriculocondylar Syndrome 1
Apnea, Snoring OMIM:602483
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea ORPHA:137754
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Episodic tachypnea, Apneic episodes in infancy ORPHA:163961
Pontocerebellar Hypoplasia, Type 16
Apnea OMIM:619527
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Self-injurious behavior, Hypokalemia, Hypoammonemia, Anxiety, Hyponatremia, Hyp... ORPHA:534
Joubert Syndrome 3
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea OMIM:608629
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Hyperekplexia 1
Apnea, Aspiration OMIM:149400
Developmental And Epileptic Encephalopathy 101
Apnea OMIM:619814
Illum Syndrome
Apnea OMIM:208155
Myotonia Fluctuans
Apnea, Stridor ORPHA:99734
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperlipidemia, Self-injurious behavior, Aggressive behavior, Hyponatremia, Emotional lability ORPHA:293987
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyperkalemia, Hyponatremia ORPHA:544482
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Respiratory insufficiency, Hypercapnia, Apneic episodes in infancy OMIM:618222
Central Hypoventilation Syndrome, Congenital, 1
Apnea, Hypoxemia, Central hypoventilation, Hypercapnia, Nocturnal hypoventilation, Hypoventilation OMIM:209880
Pontocerebellar Hypoplasia Type 2
Apnea ORPHA:2524
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, ... OMIM:619991
Coach Syndrome 2
Apneic episodes in infancy OMIM:619111
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Sleep apnea, Pulmonary arterial hypertension, Central apnea OMIM:616482
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea OMIM:314580
Propionic Acidemia
Apnea, Tachypnea OMIM:606054
Congenital Disorder Of Glycosylation, Type Ij
Apnea, Respiratory insufficiency OMIM:608093
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea OMIM:612949
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Apnea OMIM:608809
Hermansky-Pudlak Syndrome 10
Apnea, EEG abnormality OMIM:617050
Joubert Syndrome
Apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:475
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Dyspnea, Intermittent hyper... ORPHA:348
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Splenomegaly, Generalized lymphadenopathy, Lymph node hypoplasia, Absent t... OMIM:602450
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Apnea, Death in infancy OMIM:602613
Purine Nucleoside Phosphorylase Deficiency
Splenomegaly, Increased circulating inosine concentration, Increased circulating guanosine concen... OMIM:613179
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory insufficiency, Death in infancy, Neonatal respiratory distress, Respiratory fa... OMIM:608836
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia, Abnormality of peripheral nerve conduction, Apneic episodes in infancy ORPHA:35069
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Apnea, Respiratory failure, Central hypoventilation ORPHA:70474
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea, Death in childhood OMIM:214110
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Neonatal death OMIM:608013
Fatal Familial Insomnia
Apnea OMIM:600072
Joubert Syndrome With Oculorenal Defect
Apnea, Tachypnea ORPHA:2318
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Apnea OMIM:618056
Joubert Syndrome With Renal Defect
Apnea, Abnormal pattern of respiration ORPHA:220497
Pancreatic And Cerebellar Agenesis
Apnea, Death in infancy OMIM:609069
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea ORPHA:79644
Mogs-Cdg
Respiratory distress, Apnea, Hypoventilation, Absent brainstem auditory responses ORPHA:79330
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea OMIM:210200
Orofaciodigital Syndrome Xvi
Apnea OMIM:617563
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Sleep apnea, EEG abnormality, EEG with spike-wave complexes, EEG with focal sharp waves, Central ... ORPHA:522077
Joubert Syndrome With Ocular Defect
Apnea, Abnormal pattern of respiration ORPHA:220493
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, EEG abnormality, Hypsarrhythmia, Tachypnea ORPHA:20
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Splenomegaly, Follicular hyperplasia, Hype... OMIM:619381
Severe X-Linked Intellectual Disability, Gustavson Type
Apneic episodes in infancy ORPHA:3078
Pontocerebellar Hypoplasia, Type 7
Apnea OMIM:614969
Biotinidase Deficiency
Apnea, Tachypnea OMIM:253260
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Apnea, Stridor, Aspiration OMIM:614653
Tenorio Syndrome
Apnea, Pneumonia OMIM:616260
Bilateral Perisylvian Polymicrogyria
Apnea, EEG with frontal focal spikes, EEG with parietal focal spikes, EEG with polyspike wave com... ORPHA:98889
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Respiratory failure OMIM:617301
Plaa-Associated Neurodevelopmental Disorder
Apnea, Respiratory insufficiency, Hypsarrhythmia ORPHA:521426
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea OMIM:619580
Arnold-Chiari Malformation Type Ii
Apnea, Pneumonia, Inspiratory stridor ORPHA:1136
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Apnea, Hypopnea, Aspiration pneumonia, Restrictive ventilatory defect, Hypoventilation OMIM:619482
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Recurrent aspiration pneumonia, Chronic lung disease, Tachypnea ORPHA:397715
Stuve-Wiedemann Syndrome 1
Apnea, Respiratory insufficiency, Pulmonary arterial hypertension, Death in infancy OMIM:601559
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Brachytelephalangic Chondrodysplasia Punctata
Asthma, Central apnea, Respiratory failure requiring assisted ventilation, Tachypnea, Neonatal re... ORPHA:79345
Aromatic L-Amino Acid Decarboxylase Deficiency
Cardiorespiratory arrest, Apnea OMIM:608643
Marshall-Smith Syndrome
Apnea, Airway obstruction, Aspiration pneumonia, Death in childhood, Recurrent aspiration pneumon... OMIM:602535
Mucopolysaccharidosis Type 1
Apnea, Sinusitis, Cough ORPHA:579
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Apnea, Episodic respiratory distress, Hyperventilation ORPHA:255210
Joubert Syndrome With Hepatic Defect
Apnea, Abnormal pattern of respiration ORPHA:1454
Hartsfield Syndrome
Hypernatremia OMIM:615465
Joubert Syndrome 21
Dyspnea, Apnea OMIM:615636
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Sudden episodic apnea ORPHA:159
Genitopatellar Syndrome
Apnea ORPHA:85201
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea ORPHA:2754
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Aspiration ORPHA:2131
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Apnea, Respiratory insufficiency OMIM:617527
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:252010
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Apnea ORPHA:395
Autosomal Recessive Spastic Paraplegia Type 77
Sudden episodic apnea ORPHA:466722
Schwartz-Jampel Syndrome
Apnea, Respiratory insufficiency, Pulmonary arterial hypertension, Death in infancy ORPHA:800
Joubert Syndrome 2
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea OMIM:608091
Intellectual Developmental Disorder, Autosomal Dominant 54
Apnea, Hyperventilation OMIM:617799
Unilateral Polymicrogyria
Giant somatosensory evoked potentials, Apnea, Epistaxis ORPHA:268943
Joubert Syndrome 1
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea OMIM:213300
Shprintzen-Goldberg Syndrome
Apnea ORPHA:2462
Xp21 Deletion Syndrome
Apneic episodes in infancy ORPHA:261476
Osteopathia Striata With Cranial Sclerosis
Apnea, Tracheomalacia OMIM:300373
Campomelic Dysplasia
Respiratory distress, Apnea, Tracheomalacia, Tracheobronchomalacia, Neonatal respiratory distress... OMIM:114290
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea ORPHA:17
Bohring-Opitz Syndrome
Apnea, Obstructive sleep apnea ORPHA:97297
Slc39A8-Cdg
Sudden episodic apnea, Hypsarrhythmia ORPHA:468699
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
Ogden Syndrome
Apnea, Pulmonary arterial hypertension, Restrictive ventilatory defect, Aspiration OMIM:300855
Prader-Willi-Like Syndrome
Obstructive sleep apnea, Central apnea ORPHA:398073
Joubert Syndrome 5
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea OMIM:610188
Mosaic Variegated Aneuploidy Syndrome
Apnea ORPHA:1052
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Apnea, Central sleep apnea, Aspiration pneumonia, Breathing dysregulation, Hypoventilation, Obstr... ORPHA:438213
Autosomal Recessive Malignant Osteopetrosis
Chronic rhinitis, Apnea, Pulmonary arterial hypertension ORPHA:667
Diethylstilbestrol Syndrome
Central apnea ORPHA:1916
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Asthma ORPHA:3206
Wolfram Syndrome
Respiratory insufficiency, Central apnea ORPHA:3463
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Orofaciodigital Syndrome Type 2
Apnea, Tachypnea ORPHA:2751
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Asthma, Apnea, EEG abnormality, Aspiration, Neonatal respiratory distress OMIM:619503
Semilobar Holoprosencephaly
Aspiration pneumonia, Abnormal pattern of respiration, Chronic lung disease, Central apnea ORPHA:220386
Alobar Holoprosencephaly
Aspiration pneumonia, Abnormal pattern of respiration, Chronic lung disease, Central apnea ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Aspiration pneumonia, Abnormal pattern of respiration, Chronic lung disease, Central apnea ORPHA:93926
Lobar Holoprosencephaly
Aspiration pneumonia, Abnormal pattern of respiration, Chronic lung disease, Central apnea ORPHA:93924
Hypermobile Ehlers-Danlos Syndrome
Apnea, Decreased nerve conduction velocity ORPHA:285
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
EEG abnormality, Obstructive sleep apnea ORPHA:371364
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Paroxysmal dyspnea, Apneic episodes in infancy, Respiratory failure requiri... ORPHA:99125
Pallister-Killian Syndrome
Stillbirth, Hyperventilation, Apneic episodes in infancy OMIM:601803
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
Unc80tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Unc80em1(IMPC)Tcp Exon Deletion Mice

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