Gene Summary

Name:
solute carrier family 5 (choline transporter), member 7
Synonyms:
CHT1

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
abnormal hair growth Slc5a7tm1a(KOMP)Wtsi HET Early adult 9.86×10-08
preweaning lethality, complete penetrance Slc5a7tm1a(KOMP)Wtsi HOM   Early adult 0.00
increased grip strength Slc5a7tm1a(KOMP)Wtsi HET Early adult 2.08×10-13
decreased total body fat amount Slc5a7tm1a(KOMP)Wtsi HET Early adult 3.43×10-05
decreased circulating fructosamine level Slc5a7tm1a(KOMP)Wtsi HET Early adult 3.88×10-05

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.

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Legacy Phenotype Associated Images

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View all 14 images

View all 9 images

Human diseases caused by Slc5a7 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 Slc5a7 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Fa... ORPHA:98914
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor OMIM:158580
Myasthenic Syndrome, Congenital, 20, Presynaptic
Apnea, Facial palsy, Stridor, Hypoventilation OMIM:617143

The table below shows human diseases predicted to be associated to Slc5a7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in childhood, Central apnea, Respiratory insufficiency OMIM:611722
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Tremor, Dyspnea, Fatiguable weakness of proximal limb m... ORPHA:90117
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Hypotrichosis 1
Sparse eyebrow, Sparse hair, Sparse axillary hair, Sparse pubic hair, Sparse body hair, Sparse ey... OMIM:605389
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Respiratory insufficiency due to muscle weakness, Paucity... OMIM:611890
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory distress, Respiratory insufficiency, Facial palsy, Re... OMIM:614399
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cough, Respiratory failure, Tachypnea, Cyanosis OMIM:263000
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Nemaline Myopathy 8
Respiratory failure, Facial palsy, Death in infancy OMIM:615348
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Degeneration of anterior horn cells, Respiratory insufficiency OMIM:600333
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency OMIM:253300
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Reduced maximal inspiratory pressure, Respiratory insuffi... ORPHA:266
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Fatigable weakness of respiratory muscles, Exertional dyspnea, Or... ORPHA:98913
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness,... ORPHA:2590
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:614373
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... ORPHA:3361
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... OMIM:602433
Amyotrophic Lateral Sclerosis
Fatigable weakness of respiratory muscles, Dyspnea, Fatigable weakness of swallowing muscles, Abn... ORPHA:803
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Respiratory failure OMIM:618637
Trichodysplasia-Xeroderma
Trichodysplasia, Sparse hair, Dry hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... OMIM:190360
Asbestos Intoxication
Restrictive ventilatory defect, Wheezing, Reduced forced vital capacity, Dyspnea, Late inspirator... ORPHA:2302
Neuronopathy, Distal Hereditary Motor, Type Viib
Facial palsy, Abnormal lower motor neuron morphology OMIM:607641
Amyotrophic Lateral Sclerosis 19
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis OMIM:615515
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Optic atrophy, Respiratory failure OMIM:619057
Laryngotracheoesophageal Cleft
Dyspnea, Cough, Neonatal respiratory distress, Cyanosis, Stridor, Aspiration ORPHA:2004
Muscular Dystrophy, Congenital, 1B
Facial palsy, Respiratory failure OMIM:604801
Cryptogenic Organizing Pneumonia
Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distress, Cough, Nonproductive cou... ORPHA:1302
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory failure, Respiratory insufficiency OMIM:610127
Amyotrophic Lateral Sclerosis 5, Juvenile
Respiratory insufficiency due to muscle weakness, Abnormal lower motor neuron morphology, Amyotro... OMIM:602099
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
3-Methylglutaconic Aciduria, Type Viii
Apnea, Tremor, Respiratory failure, Death in infancy OMIM:617248
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:605711
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:228940
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Optic atrophy, Death in infancy, Respiratory insufficiency OMIM:614299
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Death in infancy, Hypoxemia, Neo... OMIM:610921
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Chiari Malformation Type Ii
Spina bifida, Inspiratory stridor, Cervical myelopathy, Opisthotonus, Syringomyelia, Cyanosis, My... OMIM:207950
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory failure, Nasal flaring, Tachypnea, Hypoxemia, Cyanosis ORPHA:70587
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Reduced forced vital capacity, Respiratory distress, Bronchiectasis, In... OMIM:610913
Congenital Muscular Dystrophy With Intellectual Disability
Facial palsy, Respiratory failure, Respiratory insufficiency, Fatigable weakness of skeletal muscles ORPHA:370968
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Arthrogryposis Multiplex Congenita 6
Neonatal death, Respiratory failure, Death in infancy, Death in childhood OMIM:619334
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Respiratory insufficiency, Re... ORPHA:254875
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Leukoencephalopathy With Dystonia And Motor Neuropathy
Head tremor, Abnormal motor neuron morphology, Intention tremor OMIM:613724
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Hypercapnia, Respiratory failure, Respiratory insufficiency OMIM:267480
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Dyspnea, Cough, Pneumonia, Decreased DLCO, Hypoxemia, Cyanosis OMIM:610910
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness OMIM:611067
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Cyanosis, Exertional dyspnea OMIM:250800
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Respiratory insufficiency, Neonatal respiratory distress, Neonatal death, Death... OMIM:245400
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Myelitis ORPHA:71211
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonary arterial ... ORPHA:2414
Breath-Holding Spells
Cyanosis OMIM:607578
Woolly Hair, Autosomal Dominant
Dry hair, Abnormal hair morphology, Coarse hair, Slow-growing hair, Woolly hair OMIM:194300
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Ventilator dependence with inability to wean, Inspiratory stridor, Degeneration of anterior horn ... OMIM:604320
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Abnormal autonomic nervous system physiology, Orthostatic hypotension, Decreased nerve ... OMIM:252320
Acute Interstitial Pneumonia
Dyspnea, Bronchiectasis, Pleural effusion, Nonproductive cough, Crackles, Hypoxemia, Decreased DL... ORPHA:79126
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Respiratory failure, Neonatal respiratory distress ORPHA:168486
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Myelopathy, Tremor, Respiratory failure, Death in infancy OMIM:617186
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Optic atrophy, Respiratory failure, Central hypoventilation OMIM:618233
Multiple Mitochondrial Dysfunctions Syndrome 3
Optic atrophy, Respiratory failure, Respiratory insufficiency OMIM:615330
Hyperekplexia 4
Respiratory failure OMIM:618011
Intermediate Nemaline Myopathy
Facial palsy, Respiratory failure, Facial diplegia ORPHA:171433
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Staphylococcal Necrotizing Pneumonia
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Acute infectious pne... ORPHA:36238
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Amyotro... OMIM:606070
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Hypoxemia, Neonatal respiratory dis... ORPHA:2257
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Leigh Syndrome
Optic atrophy, Respiratory failure, Respiratory insufficiency, Abnormal pattern of respiration OMIM:256000
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Hypotrichosis 12
Sparse hair, Dry hair, Slow-growing hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the e... OMIM:615885
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Avian Influenza
Myelitis, Respiratory distress, Dyspnea, Pleural effusion, Cough, Nonproductive cough, Pneumonia,... ORPHA:454836
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Respiratory failure, Tachypnea, Hypoxemia ORPHA:178320
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Respiratory failure, Respiratory insufficiency OMIM:618329
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:205100
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Spinocerebellar Ataxia Type 1
Postural tremor, Abnormal nerve conduction velocity, Respiratory failure, Optic atrophy, Abnormal... ORPHA:98755
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinusitis, Pneumonia, Respiratory insuff... OMIM:618695
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Dyspnea, Cough, Crackles, Decreased DLCO, Hypoxemia, Cyanosis ORPHA:747
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Upper airway obstruction, C... ORPHA:137914
Combined Oxidative Phosphorylation Deficiency 4
Opisthotonus, Respiratory failure, Death in infancy OMIM:610678
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Abnormal blood gas level, Hypoxemia ORPHA:70578
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Tremor, Respiratory failure ORPHA:363400
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Facial palsy, ... OMIM:310400
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Hereditary Motor And Sensory Neuropathy, Type Iic
Intercostal muscle weakness, Respiratory failure, Stridor, Obstructive sleep apnea, Decreased dis... OMIM:606071
Buerger Disease
Acrocyanosis ORPHA:36258
Arnold-Chiari Malformation Type Ii
Neurogenic bladder, Apnea, Inspiratory stridor, Pneumonia, Meningocele, Opisthotonus, Syringomyel... ORPHA:1136
Congenital Myasthenic Syndrome
Respiratory arrest, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Fa... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Fa... ORPHA:98914
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Lethal Congenital Contracture Syndrome 1
Neonatal death, Paucity of anterior horn motor neurons OMIM:253310
Acquired Methemoglobinemia
Cyanosis, Dyspnea, Hypoxemia, Respiratory distress ORPHA:464453
Snakebite Envenomation
Epistaxis, Respiratory paralysis, Erythema, Respiratory failure, Angioedema, Ecchymosis ORPHA:449285
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Sabinas Brittle Hair Syndrome
Sparse hair, Dry hair, Nail dysplasia, Brittle hair, Nail dystrophy OMIM:211390
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Optic atrophy, Respiratory failure, Intention tremor OMIM:616505
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Respiratory insufficiency OMIM:273730
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Respiratory failure, Head titubation ORPHA:3240
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Optic disc pallor OMIM:615838
Polyglucosan Body Neuropathy, Adult Form
Neurogenic bladder, Abnormal upper motor neuron morphology, Orthostatic hypotension OMIM:263570
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Weakness of muscles of respiration, Amyotrophic lateral scleros... ORPHA:52430
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation OMIM:603689
Tricuspid Atresia
Cyanosis ORPHA:1209
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis, Optic atrophy OMIM:261680
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Pulmonary Capillary Hemangiomatosis
Dyspnea, Elevated pulmonary artery pressure, Exertional dyspnea, Pleural effusion, Hemothorax, Hy... ORPHA:199241
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2759
Scedosporiosis
Decreased pulmonary function, Cough, Bronchial breath sound, Pneumonia, Pleural empyema, Respirat... ORPHA:449280
Mercury Poisoning
Tremor, Dyspnea, Respiratory distress, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Degeneration of anterior horn cells, Respiratory insuffic... ORPHA:1145
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Combined Oxidative Phosphorylation Deficiency 3
Tremor, Respiratory insufficiency, Death in childhood, Respiratory failure, Optic neuropathy, Opt... OMIM:610505
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea, Hypoxemia, Cy... ORPHA:555874
Pulmonary Arteriovenous Malformation
Dyspnea, Cough, Hemothorax, Epistaxis, Pleural empyema, Pulmonary arterial hypertension, Hypoxemi... ORPHA:2038
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Intention tremor OMIM:215470
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Optic atrophy, Respiratory failure, Optic disc pallor OMIM:259720
Muscular Dystrophy, Duchenne Type
Hypoventilation, Respiratory failure, Respiratory insufficiency OMIM:310200
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Respiratory insufficiency ORPHA:93941
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency due to muscle weakness... ORPHA:70
Cryptosporidiosis
Wheezing, Respiratory distress, Cough, Respiratory failure, Hypoxemia ORPHA:1549
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Abnormal upper motor neuron morphology, Postural tremor, Optic atrophy OMIM:607694
Waardenburg Syndrome Type 3
Acrocyanosis, Tracheomalacia, Atelectasis ORPHA:896
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Optic atrophy, Respiratory failure, Respiratory distress ORPHA:2707
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Productive cough, Atelectasis, Neonatal respiratory distress, Respirato... ORPHA:244
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Pneumonia, Facial palsy, Respiratory failure, Facial dipl... ORPHA:98905
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Exaggerated startle response, Optic atrophy, Respiratory failure OMIM:617301
Peripartum Cardiomyopathy
Dyspnea, Exertional dyspnea, Orthopnea, Crackles, Respiratory failure, Asthma, Paroxysmal dyspnea... ORPHA:563
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility ORPHA:3226
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Intention tremor OMIM:614407
Congenital Fibrinogen Deficiency
Opisthotonus, Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility ORPHA:335
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology ORPHA:275872
Poliomyelitis
Fatigable weakness of respiratory muscles, Myelitis, Abnormal motor nerve conduction velocity, Re... ORPHA:2912
Hsd10 Disease, Infantile Type
Cyanosis, Optic atrophy ORPHA:391428
Multiple Acyl-Coa Dehydrogenase Deficiency
Restrictive ventilatory defect, Dyspnea, Cardiorespiratory arrest, Respiratory failure, Fatigable... ORPHA:26791
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Severe Congenital Nemaline Myopathy
Facial palsy, Respiratory failure, Facial diplegia ORPHA:171430
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion ORPHA:542323
Sepsis In Premature Infants
Abnormal mucociliary clearance, Dyspnea, Purpura, Decreased pulmonary function, Jaundice, Petechi... ORPHA:90051
Boutonneuse Fever
Petechiae, Respiratory failure ORPHA:83313
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Respiratory distress, Opisthotonus, Respiratory f... ORPHA:206436
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Purpura, Cough, Respiratory insufficiency, Cutis marmorata, Asthma, Sinusitis, Urti... ORPHA:183
Hemangiomatosis, Cutaneous, With Associated Features
Acrocyanosis, Spinal cord tumor OMIM:234800
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Crackles, Pulmonary venous hypertension, Intercosta... ORPHA:1329
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Neurogenic bladder, Respiratory failure requiring assisted ventilation, Respiratory failure, Recu... ORPHA:496641
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Leigh Syndrome With Cardiomyopathy
Apnea, Respiratory distress, Central hypoventilation, Respiratory failure, Optic atrophy ORPHA:70474
Dravet Syndrome
Cyanotic episode, Action tremor ORPHA:33069
Niemann-Pick Disease, Type C2
Prolonged neonatal jaundice, Respiratory failure, Respiratory insufficiency OMIM:607625
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Riddle Syndrome
Conjunctival telangiectasia, Recurrent pneumonia, Restrictive ventilatory defect, Recurrent sinus... ORPHA:420741
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory failure, Respiratory distress, Respiratory insufficiency OMIM:608836
Brain-Lung-Thyroid Syndrome
Respiratory distress, Intention tremor, Neonatal respiratory distress, Respiratory failure, Asthm... ORPHA:209905
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Opisthotonus, Cyanosis ORPHA:3304
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Atelectasis, Intercostal muscle weakness, Facial pals... ORPHA:258
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Titubation ORPHA:280210
3-Methylglutaconic Aciduria Type 7
Opisthotonus, Respiratory failure, Pneumothorax ORPHA:445038
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Orthopnea, Pneumonia, Breat... ORPHA:99103
Poems Syndrome
Acrocyanosis, Restrictive ventilatory defect, Pleural effusion, Papilledema, Respiratory insuffic... ORPHA:2905
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Purpura, Urticaria, Erythema ORPHA:343
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency OMIM:609015
Double Outlet Right Ventricle
Tachypnea, Cyanosis ORPHA:3426
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Exertional dyspnea, Decreased pulmonary function, Pulmonary arterial hypertension, Tachy... ORPHA:99106
Tetrasomy 5P
Pulmonary arterial hypertension, Cyanosis, Respiratory distress ORPHA:3309
Geleophysic Dysplasia 3
Dyspnea, Sleep apnea, Respiratory failure, Pneumonia OMIM:617809
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Pleural effusion, Respiratory failure, Chylothorax ORPHA:3015
Aicardi-Goutieres Syndrome 1
Acrocyanosis, Petechiae, Prolonged neonatal jaundice, Purpura OMIM:225750
Glycogen Storage Disease Due To Acid Maltase Deficiency
Sleep apnea, Fatigable weakness of respiratory muscles, Respiratory distress, Fatigable weakness ... ORPHA:365
Ethylene Glycol Poisoning
Episodic respiratory distress, Facial palsy, Abnormal pattern of respiration, Tachypnea, Cyanosis ORPHA:31826
Congenital Fiber-Type Disproportion Myopathy
Fatigable weakness of bulbar muscles, Hypercapnia, Respiratory insufficiency due to muscle weakne... ORPHA:2020
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Arterial Tortuosity Syndrome
Prematurely aged appearance, Dyspnea, Cardiorespiratory arrest, Respiratory distress, Telangiecta... ORPHA:3342
Renal Dysplasia-Limb Defects Syndrome
Neonatal death, Respiratory failure, Respiratory distress, Pneumothorax OMIM:266910
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Japanese Encephalitis
Pill-rolling tremor, Tremor, Decreased motor nerve conduction velocity, Respiratory distress, Irr... ORPHA:79139
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Dyspnea, Lip telangiectasia, Spontaneous, recurrent epistaxis, Nasal... OMIM:610655
Atrial Septal Defect, Coronary Sinus Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Pneumonia, Pulmonary arteri... ORPHA:99104
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure, Telangiectasia of the skin ORPHA:679
Lethal Acantholytic Erosive Disorder
Fragile skin, Respiratory failure ORPHA:158687
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory failure, Optic disc pallor, Optic neuropathy, Respiratory insufficiency OMIM:252010
Atrioventricular Septal Defect 3
Pulmonary arterial hypertension, Cyanosis OMIM:600309
Leigh Syndrome
Optic atrophy, Respiratory failure, Abnormal pattern of respiration ORPHA:506
Otopalatodigital Syndrome, Type Ii
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:304120
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Restrictive ventilatory defect, Dyspnea, Nail bed telangiectasia, Li... OMIM:187300
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Decreased sensitivity to hypoxemia, Orthostatic hypotension OMIM:223900
Myasthenia Gravis
Acrocyanosis, Dyspnea ORPHA:589
Congenital Tracheal Stenosis
Wheezing, Dyspnea, Respiratory distress, Upper airway obstruction, Neonatal asphyxia, Cyanosis ORPHA:141127
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Esophageal Atresia
Restrictive ventilatory defect, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Machado-Joseph Disease Type 3
Neurogenic bladder, Abnormal lower motor neuron morphology, Spinocerebellar tract degeneration, D... ORPHA:276244
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Nocardiosis
Dyspnea, Respiratory distress, Pleural effusion, Emphysema, Nonproductive cough, Pneumonia, Produ... ORPHA:31204
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Dyspnea, Nail bed telangiectasia, Lip telangiectasia, Fingerpad tela... OMIM:600376
Bloom Syndrome
Chronic pulmonary obstruction, Pneumonia, Respiratory failure, Rhinitis, Cutaneous photosensitivi... ORPHA:125
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cardiorespiratory arrest, Abnormal autonomic nervous system physiology, Central ... ORPHA:293987
Unilateral Polymicrogyria
Apnea, Cyanosis, Giant somatosensory evoked potentials, Epistaxis ORPHA:268943
Tarp Syndrome
Apnea, Cyanosis, Optic atrophy ORPHA:2886
Histiocytoid Cardiomyopathy
Tachypnea, Cyanosis, Optic atrophy, Cough ORPHA:137675
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Hyperoxaluria, Primary, Type I
Acrocyanosis, Optic atrophy, Cutis marmorata, Optic neuropathy OMIM:259900
Listeriosis
Tremor, Respiratory distress, Pneumonia, Jaundice, Respiratory failure ORPHA:533
Pitt-Hopkins Syndrome
Acrocyanosis, Sleep apnea, Aganglionic megacolon, Abnormal pattern of respiration, Hyperventilation ORPHA:2896
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis OMIM:261740
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Familial Dysautonomia
Acrocyanosis, Optic atrophy, Orthostatic hypotension ORPHA:1764
Niemann-Pick Disease Type C
Tremor, Respiratory insufficiency, Jaundice, Aspiration pneumonia, Respiratory failure, Intention... ORPHA:646
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Nijmegen Breakage Syndrome
Cutaneous photosensitivity, Respiratory failure, Recurrent pneumonia ORPHA:647
Severe Generalized Junctional Epidermolysis Bullosa
Dyspnea, Respiratory distress, Pneumonia, Fragile skin, Respiratory failure, Stridor, Pneumothorax ORPHA:79404
Steinert Myotonic Dystrophy
Fatigable weakness of bulbar muscles, Respiratory failure requiring assisted ventilation, Respira... ORPHA:273
Short Rib-Polydactyly Syndrome
Respiratory failure ORPHA:1505
Goodpasture Syndrome
Restrictive ventilatory defect, Exertional dyspnea, Cough, Crackles, Increased DLCO, Tachypnea, C... OMIM:233450
Dermatomyositis
Acrocyanosis, Respiratory insufficiency, Telangiectasia of the skin, Erythema, Pulmonary arterial... ORPHA:221
Neurodegeneration With Brain Iron Accumulation 4
Tremor, Optic atrophy, Abnormal lower motor neuron morphology OMIM:614298
Ear-Patella-Short Stature Syndrome
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2554
Heterotaxy, Visceral, 1, X-Linked
Cyanosis, Respiratory distress OMIM:306955
Primary Hyperoxaluria
Acrocyanosis, Optic atrophy, Cutis marmorata, Optic disc pallor ORPHA:416
Abetalipoproteinemia
Respiratory failure ORPHA:14
Autosomal Recessive Polycystic Kidney Disease
Spontaneous pneumothorax, Hypoventilation, Jaundice, Respiratory failure, Recurrent pneumonia ORPHA:731
Costello Syndrome
Tracheomalacia, Respiratory insufficiency, Respiratory failure, Obstructive sleep apnea, Vestibul... OMIM:218040
Microphthalmia With Linear Skin Defects Syndrome
Dyspnea, Respiratory failure, Respiratory distress, Erythema ORPHA:2556
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy OMIM:617478
Myhre Syndrome
Respiratory failure, Respiratory insufficiency OMIM:139210
Tuberous Sclerosis Complex
Respiratory failure, Generalized abnormality of skin, Respiratory distress ORPHA:805
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea ORPHA:99050
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary arterial hypertension, Restrictive ventilatory defect, Spinal dysraphism, Respiratory f... ORPHA:96334
Hutchinson-Gilford Progeria Syndrome
Generalized abnormality of skin, Premature skin wrinkling, Exertional dyspnea, Prominent superfic... ORPHA:740
Aicardi-Goutières Syndrome
Acrocyanosis, Tremor, Prolonged neonatal jaundice, Cutis marmorata ORPHA:51
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Eisenmenger Syndrome
Wheezing, Respiratory distress, Exertional dyspnea, Increased pulmonary vascular resistance, Hypo... ORPHA:97214
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Respiratory failure ORPHA:2636
Classical Ehlers-Danlos Syndrome
Acrocyanosis, Prematurely aged appearance, Poor wound healing, Orthostatic hypotension, Fragile s... ORPHA:287
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Exertional dyspnea, Respiratory failure requiring assisted ventilation, Apn... ORPHA:99125
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Respiratory failure, Emphysema, Optic atrophy, Optic nerve hypoplasia ORPHA:500150
Truncus Arteriosus
Tachypnea, Cyanosis ORPHA:3384
Ulbright-Hodes Syndrome
Respiratory failure, Respiratory distress, Pneumothorax ORPHA:3404
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Apnea, Decreased nerve conduction velocity ORPHA:285
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Cyanosis, Respiratory distress ORPHA:51608
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata OMIM:303600
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor OMIM:158580
Myasthenic Syndrome, Congenital, 20, Presynaptic
Apnea, Facial palsy, Stridor, Hypoventilation OMIM:617143

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 Slc5a7

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 Slc5a7.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Slc5a7tm1a(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Slc5a7tm1a(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)