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
preweaning lethality, complete penetrance Slc5a7tm1a(KOMP)Wtsi HOM   Early adult 0.00
abnormal hair growth Slc5a7tm1a(KOMP)Wtsi HET Early adult 9.86×10-08
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
increased grip strength Slc5a7tm1a(KOMP)Wtsi HET Early adult 2.08×10-13

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 Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Forepaw

15 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Legacy Phenotype Associated Images

View all 101 images

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
Intermittent episodes of respiratory insufficiency due to muscle weakness, Cyanosis, Fatigable we... ORPHA:98914
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Abnormal motor nerve conduction velocity, Tremor OMIM:158580
Myasthenic Syndrome, Congenital, 20, Presynaptic
Facial palsy, Fatigable weakness OMIM:617143

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Facial diplegia, Neonatal death, Respiratory insufficienc... OMIM:611890
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Tremor, Fatiguable weakness of proximal limb musc... ORPHA:90117
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Spinal Muscular Atrophy, Type I
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:300717
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:616081
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Nemaline Myopathy 8
Facial palsy, Respiratory failure, Death in infancy OMIM:615348
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Amyotrophic lateral sclerosis OMIM:613435
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Respiratory failure, Tremor, Respiratory insufficiency du... ORPHA:2590
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Tremor OMIM:618637
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Neonatal respiratory distress, Respiratory failure OMIM:619057
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness OMIM:615515
Congenital Myopathy 10A, Severe Variant
Abnormal motor nerve conduction velocity, Facial palsy, Respiratory failure, Respiratory insuffic... OMIM:614399
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory failure, Respiratory insufficiency ORPHA:266
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Fatigable weakness of neck muscles, Decreased miniature endplate potentials, Facial pal... ORPHA:98913
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Perching Syndrome
Cyanosis OMIM:617055
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Dystonia, Respiratory failure, Death in infancy OMIM:616277
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Respiratory failure, Amyotrophic lateral sclerosis OMIM:613954
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Facial palsy, Respiratory failure, Fatigable weakness of skeletal muscles ORPHA:370968
Immunodeficiency 95
Respiratory failure OMIM:619773
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness OMIM:611067
Congenital Myopathy 14
Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness OMIM:618414
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death OMIM:619334
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Respiratory failure OMIM:263000
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Cyanosis, Choreoathetosis ORPHA:71277
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Respiratory failure, Death in infancy OMIM:618240
Neuromyelitis Optica Spectrum Disorder
Myelitis, Respiratory failure ORPHA:71211
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:610127
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Muscular Dystrophy, Congenital, 1B
Facial palsy, Respiratory failure OMIM:604801
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N... OMIM:245400
Breath-Holding Spells
Cyanosis OMIM:607578
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ... OMIM:602099
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Respiratory failure, Degeneration of anterior horn cells ORPHA:2254
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure ORPHA:1832
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Cyanosis, Death in infancy, Neonatal death, Respiratory failure OMIM:265120
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ventilator dependence with inability to wean, Respiratory failure, Respiratory insufficiency due ... ORPHA:254875
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Respiratory insufficiency, Facial diplegia, Neonatal d... OMIM:618186
Leigh Syndrome, Nuclear
Optic atrophy, Dystonia, Respiratory failure, Respiratory insufficiency OMIM:256000
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Hyperekplexia 4
Respiratory failure OMIM:618011
Intermediate Nemaline Myopathy
Facial palsy, Facial diplegia, Respiratory failure ORPHA:171433
Multiple Mitochondrial Dysfunctions Syndrome 1
Facial paralysis, Respiratory insufficiency, Death in infancy, Neonatal death, Opisthotonus, Resp... OMIM:605711
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Dystonia, Respiratory failure, Choreoathetosis OMIM:312170
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Chiari Malformation Type Ii
Cervical myelopathy, Cyanosis, Syringomyelia, Opisthotonus, Spina bifida OMIM:207950
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Purpura, Respiratory failure, Vasculitis in the skin OMIM:620296
Vacterl Association With Hydrocephalus
Stillbirth, Respiratory failure, Respiratory insufficiency OMIM:276950
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Death in infancy, Tremor, Death in adolescence, Optic disc pallor, Res... OMIM:615512
Hereditary Methemoglobinemia
Athetosis, Limb dystonia, Cyanosis ORPHA:621
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Multiple Mitochondrial Dysfunctions Syndrome 3
Optic atrophy, Respiratory failure, Respiratory insufficiency OMIM:615330
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Ventilator dependence with inability to wean, Decreased nerve conduction velocity, Respiratory fa... OMIM:604320
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Limb dystonia, Respiratory failure, Reduced subcutaneous adipose tissue ORPHA:363400
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Motor neuron atrophy, Fatigable weakness of bulbar muscles, Fatiga... ORPHA:803
Infant Acute Respiratory Distress Syndrome
Cyanosis, Hypoxemia, Respiratory failure ORPHA:70587
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P... OMIM:607625
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Optic atrophy, Abnormality of somatosensory evoked potentials... ORPHA:98755
Combined Oxidative Phosphorylation Deficiency 4
Opisthotonus, Respiratory failure, Death in infancy OMIM:610678
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Decreased compound muscle action potential amplitude, Abnormal low... OMIM:602433
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Ullrich Congenital Muscular Dystrophy
Respiratory failure, Torticollis ORPHA:75840
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Generalized dystonia ORPHA:70472
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Respiratory failure, Tremor, Intention tremor OMIM:616505
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude OMIM:606353
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
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Respiratory failure ORPHA:168486
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis ORPHA:2004
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Cyanosis, Tremor OMIM:250800
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Myelopathy, Death in childhood, Tremor, Torticollis, Respiratory failure OMIM:617186
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Asbestos Intoxication
Cyanosis, Oxygen desaturation on exertion, Hypoxemia, Respiratory failure ORPHA:2302
Pneumocystosis
Respiratory failure requiring assisted ventilation, Hypoxemia, Respiratory failure, Respiratory i... ORPHA:723
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Respiratory failure, Vestibular areflexia, Head titubation ORPHA:3240
Combined Oxidative Phosphorylation Deficiency 11
Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respiratory failure OMIM:614922
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Abnormal upper motor neuron m... OMIM:606070
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Tricuspid Atresia
Cyanosis ORPHA:1209
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Cyanosis, Death in infancy, Neonatal death, Hypoxemia, Respiratory... OMIM:610921
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Facial palsy, Respiratory failure OMIM:606612
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Intention tremor OMIM:215470
Hsd10 Disease, Infantile Type
Optic atrophy, Dystonia, Cyanosis, Choreoathetosis ORPHA:391428
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Snakebite Envenomation
Erythema, Respiratory failure, Angioedema, Ecchymosis ORPHA:449285
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Abnormal blood gas level, Respiratory failure ORPHA:70578
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Resp... OMIM:608647
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Respiratory failure, Death in childhood OMIM:615838
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Jaundice, Respiratory failure OMIM:250940
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Respiratory failure ORPHA:444013
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Neurogenic bladder, Orthostatic hypotension OMIM:263570
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Amyotrophic Lateral Sclerosis 2, Juvenile
Arm dystonia, Amyotrophic lateral sclerosis, Generalized dystonia, Abnormal upper motor neuron mo... OMIM:205100
Mitochondrial Complex I Deficiency, Nuclear Type 10
Optic atrophy, Respiratory failure OMIM:618233
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Avian Influenza
Myelitis, Hypoxemia, Respiratory failure, Miscarriage ORPHA:454836
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Opisthotonus, Limb dystonia, Respiratory failure, Death in childhood OMIM:619847
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Hypoxemia, Cyanosis ORPHA:2257
Alg1-Cdg
Respiratory failure ORPHA:79327
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cranial nerve compression, Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Cyanosis, Opisthotonus, Bruising susceptibility ORPHA:335
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Respiratory insufficiency ORPHA:93941
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Congenital Pulmonary Lymphangiectasia
Cyanosis ORPHA:2414
Acute Interstitial Pneumonia
Cyanosis, Hypoxemia, Respiratory failure ORPHA:79126
Congenital Myopathy 21 With Early Respiratory Failure
Respiratory failure OMIM:620326
Acute Lung Injury
Hypoxemia, Respiratory failure ORPHA:178320
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Acrocyanosis, Intention tremor OMIM:614407
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Respiratory insufficiency, Death in childhood, Death in infancy, Tremor, Dystonia,... OMIM:610505
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential, Respiratory failure, Intercostal muscle weakness OMIM:606071
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Degeneration of anterior horn cells, Respiratory insuffic... ORPHA:1145
Myasthenic Syndrome, Congenital, 21, Presynaptic
Respiratory insufficiency, Cyanosis, Fatigable weakness of skeletal muscles OMIM:617239
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure, Tremor, Exaggerated startle response OMIM:620327
Congenital Tricuspid Valve Dysplasia
Cyanosis, Hypoxemia, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:555874
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology ORPHA:275872
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Respiratory failure ORPHA:3226
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Boutonneuse Fever
Petechiae, Respiratory failure ORPHA:83313
Congenital Myasthenic Syndrome
Intermittent episodes of respiratory insufficiency due to muscle weakness, Cyanosis, Fatigable we... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Intermittent episodes of respiratory insufficiency due to muscle weakness, Cyanosis, Fatigable we... ORPHA:98914
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Dravet Syndrome
Action tremor, Cyanotic episode ORPHA:33069
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Neurogenic bladder, Dystonia, Respiratory failure, Respiratory failure requiring a... ORPHA:496641
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Respiratory failure, Exaggerated startle response OMIM:617301
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Neonatal death, Respiratory arrest, Tremor, Jaundice, Dystonia, Respiratory fai... OMIM:617248
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Mercury Poisoning
Dystonia, Respiratory failure, Tremor ORPHA:330021
Poliomyelitis
Myelitis, Abnormal motor nerve conduction velocity, Fatigable weakness of respiratory muscles, Re... ORPHA:2912
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure OMIM:603689
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Congenital Heart Block
Cyanosis ORPHA:60041
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Severe Congenital Nemaline Myopathy
Facial palsy, Facial diplegia, Respiratory failure ORPHA:171430
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Hypoxemia, Respiratory failure, Respiratory insufficiency OMIM:610913
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure ORPHA:2759
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Respiratory failure, Death in childhood, Respiratory insufficiency due to muscle w... OMIM:220110
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Decreased nerve conduc... ORPHA:206436
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory failure OMIM:620166
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Palmoplantar cutis laxa, Respiratory failure, Neonatal death OMIM:616482
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Cyanosis OMIM:261680
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial palsy, Facial diplegia, Respiratory failure ORPHA:98905
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Respiratory failure ORPHA:36238
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Opisthotonus, Cyanosis ORPHA:3304
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Facial diplegia, Intercostal muscle weakness, Respiratory insuffic... ORPHA:70
Pelizaeus-Merzbacher Disease, Connatal Form
Titubation, Respiratory failure ORPHA:280210
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiorespiratory arrest, Respiratory failure, Fatigable weakness of neck muscles ORPHA:26791
3-Methylglutaconic Aciduria Type 7
Opisthotonus, Respiratory failure, Choreoathetosis ORPHA:445038
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Respiratory failure ORPHA:542323
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Congenital Myopathy 10B, Mild Variant
Respiratory failure OMIM:620249
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Oculocerebrofacial Syndrome, Kaufman Type
Optic atrophy, Respiratory failure ORPHA:2707
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Respiratory insufficiency ORPHA:159
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:608836
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis ORPHA:2032
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Respiratory insufficiency OMIM:613845
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure OMIM:617895
Muscular Dystrophy, Duchenne Type
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:310200
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Cyanosis, Exaggerated startle response, Respiratory failure requiring assisted ventilation OMIM:620423
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Oxygen desaturation on exertion, Cyanosis, Fatigable weakness, Hypoxem... ORPHA:60025
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory insufficiency, Cyanosis, Death in infancy, Optic disc pallor, Optic neuropathy, Respi... OMIM:252010
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Opisthotonus, Cyanosis, Choreoathetosis OMIM:619580
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Idiopathic Pulmonary Hemosiderosis
Respiratory failure ORPHA:99931
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Respiratory failure, Respiratory insufficiency OMIM:618329
Machado-Joseph Disease Type 3
Spinocerebellar tract degeneration, Abnormal lower motor neuron morphology, Neurogenic bladder, D... ORPHA:276244
Bickerstaff Brainstem Encephalitis
Facial paralysis, Decreased motor nerve conduction velocity, Abnormality of the autonomic nervous... ORPHA:79138
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Stillbirth, Optic disc pallor, Facial palsy, Respiratory failure OMIM:259720
Aicardi-Goutieres Syndrome 1
Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Dystonia, Acrocyanosis OMIM:225750
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficienc... ORPHA:308552
Leigh Syndrome
Optic atrophy, Dystonia, Athetosis, Respiratory failure, Choreoathetosis ORPHA:506
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia ORPHA:860
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Intention tremor, Dystonia, Respiratory failure, Choreoathetosis ORPHA:209905
Scedosporiosis
Respiratory failure ORPHA:449280
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Respiratory failure ORPHA:244
Lethal Acantholytic Erosive Disorder
Fragile skin, Respiratory failure ORPHA:158687
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Purpura, Urticaria ORPHA:343
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis, Neonatal respiratory distress, Death in childhood, Death in infancy OMIM:618426
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in infancy, Respiratory failure, Death in childhood OMIM:620278
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Tetrasomy 5P
Cyanosis ORPHA:3309
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Resting tremor OMIM:601162
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Meckel Syndrome 14
Cardiorespiratory arrest, Cyanosis OMIM:619879
Eosinophilic Granulomatosis With Polyangiitis
Respiratory insufficiency, Cutis marmorata, Purpura, Acrocyanosis, Urticaria ORPHA:183
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory failure, Facial palsy, Intercostal muscle weakness, Respiratory insufficiency ORPHA:258
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Sepsis In Premature Infants
Cyanosis, Jaundice, Purpura, Petechiae ORPHA:90051
Congenital Fiber-Type Disproportion Myopathy
Intercostal muscle weakness, Fatigable weakness of bulbar muscles, Respiratory insufficiency due ... ORPHA:2020
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Prematurely aged appearance, Cardiorespiratory arrest, Respiratory fa... ORPHA:3342
Choanal Atresia
Cyanosis ORPHA:137914
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Generalized dystonia, Tremor, Abnormal lower motor neuron morphology, Oromandibula... OMIM:614298
Riddle Syndrome
Neonatal asphyxia, Erythema, Conjunctival telangiectasia, Telangiectasia, Respiratory failure ORPHA:420741
Japanese Encephalitis
Decreased motor nerve conduction velocity, Pill-rolling tremor, Tremor, Opisthotonus, Paucity of ... ORPHA:79139
Peripartum Cardiomyopathy
Respiratory failure ORPHA:563
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Necrotizing Enterocolitis
Cyanosis ORPHA:391673
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:618278
Double Outlet Right Ventricle
Cyanosis ORPHA:3426
Malignant Atrophic Papulosis
Telangiectasia of the skin, Respiratory failure ORPHA:679
Poems Syndrome
Plethora, Papilledema, Acrocyanosis, Respiratory insufficiency due to muscle weakness ORPHA:2905
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Pulmonary Arteriovenous Malformation
Telangiectasia, Cyanosis, Hypoxemia ORPHA:2038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Listeriosis
Jaundice, Respiratory failure, Tremor, Miscarriage ORPHA:533
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Fatigable weakness o... ORPHA:365
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy OMIM:617478
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Niemann-Pick Disease Type C
Respiratory insufficiency, Limb dystonia, Axial dystonia, Tremor, Intention tremor, Jaundice, Dys... ORPHA:646
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Ethylene Glycol Poisoning
Facial palsy, Cyanosis ORPHA:31826
Bloom Syndrome
Telangiectasia, Cutaneous photosensitivity, Respiratory failure ORPHA:125
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Respiratory insufficiency ORPHA:95430
Geleophysic Dysplasia 3
Respiratory failure OMIM:617809
Tarp Syndrome
Optic atrophy, Cyanosis ORPHA:2886
Radio-Renal Syndrome
Respiratory failure ORPHA:3015
Joubert Syndrome 21
Optic atrophy, Respiratory failure, Megalopapilla OMIM:615636
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Spinal arteriovenous malformation, Nasal mucosa telangiectasia, Cyanosis, ... OMIM:610655
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Spinal arteriovenous malformation, Nasal mucosa t... OMIM:187300
Steinert Myotonic Dystrophy
Respiratory insufficiency, Facial diplegia, Fatigable weakness of bulbar muscles, Respiratory ins... ORPHA:273
Cardiogenic Shock
Cyanosis, Hypoxemia ORPHA:97292
Familial Dysautonomia
Optic atrophy, Acrocyanosis, Orthostatic hypotension ORPHA:1764
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Respiratory failure, Death in infancy OMIM:300868
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... OMIM:600376
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Orthostatic hypotension OMIM:223900
Complete Atrioventricular Septal Defect
Cyanosis ORPHA:1329
Nijmegen Breakage Syndrome
Cutaneous photosensitivity, Respiratory failure ORPHA:647
Histiocytoid Cardiomyopathy
Optic atrophy, Cyanosis ORPHA:137675
Abetalipoproteinemia
Respiratory failure ORPHA:14
Hyperoxaluria, Primary, Type I
Optic atrophy, Cutis marmorata, Acrocyanosis, Optic neuropathy OMIM:259900
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Hemorrhagic Fever-Renal Syndrome
Petechiae, Respiratory failure, Ecchymosis ORPHA:340
Unilateral Polymicrogyria
Cyanosis, Giant somatosensory evoked potentials ORPHA:268943
Atrial Septal Defect, Ostium Primum Type
Cyanosis ORPHA:99106
Myhre Syndrome
Respiratory failure, Respiratory insufficiency OMIM:139210
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cardiorespiratory arrest, Cyanosis, Abnormal autonomic nervous system physiology ORPHA:293987
Myasthenia Gravis
Acrocyanosis ORPHA:589
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory failure, Respiratory insufficiency OMIM:613658
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis OMIM:261740
Fraser Syndrome 2
Respiratory failure OMIM:617666
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Respiratory failure, Miscarriage ORPHA:96334
Primary Hyperoxaluria
Optic atrophy, Optic disc pallor, Cutis marmorata, Acrocyanosis ORPHA:416
Esophageal Atresia
Cyanosis ORPHA:1199
Microphthalmia With Linear Skin Defects Syndrome
Erythema, Respiratory failure ORPHA:2556
Congenital Tracheal Stenosis
Neonatal asphyxia, Cyanosis ORPHA:141127
Dermatomyositis
Erythema, Shawl sign, V-sign, Respiratory insufficiency, Cutaneous photosensitivity, Facial eryth... ORPHA:221
Ear-Patella-Short Stature Syndrome
Respiratory failure ORPHA:2554
Costello Syndrome
Vestibular schwannoma, Respiratory failure, Respiratory insufficiency OMIM:218040
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Severe Generalized Junctional Epidermolysis Bullosa
Fragile skin, Respiratory failure ORPHA:79404
Tuberous Sclerosis Complex
Respiratory failure, Generalized abnormality of skin ORPHA:805
Pitt-Hopkins Syndrome
Aganglionic megacolon, Acrocyanosis ORPHA:2896
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Respiratory failure ORPHA:731
Otopalatodigital Syndrome, Type Ii
Stillbirth, Respiratory failure, Spina bifida, Respiratory insufficiency OMIM:304120
Aicardi-Goutières Syndrome
Cutis marmorata, Tremor, Prolonged neonatal jaundice, Dystonia, Acrocyanosis ORPHA:51
Double Outlet Left Ventricle
Cyanosis ORPHA:3427
Atrial Septal Defect, Ostium Secundum Type
Cyanosis ORPHA:99103
Heterotaxy, Visceral, 1, X-Linked
Cyanosis OMIM:306955
Absence Of The Pulmonary Artery
Hypocapnia, Cyanosis ORPHA:980
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Vasculitis in the skin, Abnormality of the peripheral nervous ... ORPHA:48435
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Respiratory failure, Optic nerve hypoplasia ORPHA:500150
Hutchinson-Gilford Progeria Syndrome
Premature skin wrinkling, Prominent superficial blood vessels, Cyanosis, Generalized abnormality ... ORPHA:740
Nocardiosis
Respiratory failure ORPHA:31204
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Respiratory failure ORPHA:2636
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis ORPHA:99050
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Classical Ehlers-Danlos Syndrome
Poor wound healing, Bruising susceptibility, Ecchymosis, Fragile skin, Orthostatic hypotension, P... ORPHA:287
Aortic Arch Interruption
Cyanosis ORPHA:2299
Eisenmenger Syndrome
Hypoxemia, Cyanosis ORPHA:97214
Truncus Arteriosus
Cyanosis ORPHA:3384
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Ulbright-Hodes Syndrome
Respiratory failure ORPHA:3404
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis OMIM:303600
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Acrocyanosis, Bruising susceptibility, Abnormal autonomic ne... ORPHA:285
Goodpasture Syndrome
Cyanosis OMIM:233450
Generalized Arterial Calcification Of Infancy
Cyanosis ORPHA:51608
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis, Respiratory failure requiring assisted ventilation ORPHA:99125
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Abnormal motor nerve conduction velocity, Tremor OMIM:158580
Myasthenic Syndrome, Congenital, 20, Presynaptic
Facial palsy, Fatigable weakness 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