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Gene: Gphn MGI:109602

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
gephyrin
Synonyms:
5730552E08Rik,  geph

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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.

Phenotype associated images not available

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Molybdenum Cofactor Deficiency, Complementation Group C
Neonatal death OMIM:615501
Hereditary Hyperekplexia
ORPHA:3197

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis OMIM:614373
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system OMIM:608030
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy OMIM:105500
Monomelic Amyotrophy
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction ORPHA:65684
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy OMIM:617892
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy OMIM:616437
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c... OMIM:105400
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells OMIM:253550
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Spinocerebellar ... ORPHA:412066
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Neuronal loss in central n... OMIM:105550
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:300857
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system OMIM:600274
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Global brain atrophy OMIM:619132
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Chorioretinal dystrophy, Retinal dystrophy, Spinocerebellar atrophy, Abnormal... OMIM:215470
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Cer... OMIM:606353
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Spinal Muscular Atrophy, Type Iii
Degeneration of anterior horn cells OMIM:253400
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system OMIM:608627
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Spinal Muscular Atrophy, X-Linked 2
Degeneration of anterior horn cells, Decreased compound muscle action potential amplitude, Facial... OMIM:301830
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... OMIM:606070
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology OMIM:611067
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Cerebral cortical atrophy OMIM:615911
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea OMIM:615228
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Degeneration of anterior horn cells, Facial palsy OMIM:159950
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration ORPHA:803
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Axonal degeneration OMIM:604484
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... ORPHA:35689
Dystonia 31
Abnormal posturing, Dysphagia OMIM:619565
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Facial diplegia, Abnormal anterior horn cell morphology, ... OMIM:611890
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron morphology, Brain... ORPHA:52430
Spinal Muscular Atrophy, Type Iv
Degeneration of anterior horn cells OMIM:271150
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Pontocerebellar Hypoplasia Type 1
Degeneration of anterior horn cells, Optic atrophy, Cerebral cortical atrophy ORPHA:2254
Phosphoserine Aminotransferase Deficiency
Death in infancy, Apnea OMIM:610992
Ravine Syndrome
Apnea, Anorexia ORPHA:99852
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Orthostatic hypotension OMIM:263570
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, EEG abnormality, Caudate atrophy, Cerebral atrophy OMIM:221770
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Pontocerebellar Hypoplasia, Type 1A
Degeneration of anterior horn cells, Cerebral cortical atrophy OMIM:607596
Seizures, Benign Familial Infantile, 3
Apnea OMIM:607745
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Global ... ORPHA:275872
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis ORPHA:600
Myoclonus, Intractable, Neonatal
Impaired oral bolus formation, Apnea, Dysphagia OMIM:617235
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Seizures, Benign Familial Infantile, 1
Apnea OMIM:601764
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology ORPHA:1145
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy, Stereotypical hand wringing ORPHA:500545
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Degeneration of anterior horn cells, Decreased nerve conduction velocity, Axonal degeneration OMIM:604320
Pontocerebellar Hypoplasia Type 4
Central apnea, Respiratory failure requiring assisted ventilation ORPHA:166063
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency, Dysphagia OMIM:618198
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:205100
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... OMIM:265120
Severe Neonatal-Onset Encephalopathy With Microcephaly
Apnea, Respiratory insufficiency ORPHA:209370
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology ORPHA:2590
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Abnormal pa... OMIM:608800
Idiopathic Camptocormia
Cerebral atrophy, Amyotrophic lateral sclerosis, Syringomyelia, Myelitis ORPHA:1320
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Leukodystrophy, Hypomyelinating, 4
Head titubation, Apnea OMIM:612233
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Cerebellar atrophy, Degeneration of anterior horn cells, ... ORPHA:276244
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Death in childhood OMIM:618225
Mitochondrial Complex I Deficiency, Nuclear Type 13
Death in infancy, Apnea OMIM:618235
Developmental And Epileptic Encephalopathy 61
Apnea OMIM:617933
Atypical Rett Syndrome
Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Tongue thrusting, Agitation, Ina... ORPHA:3095
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Apnea, Respiratory insufficiency OMIM:617290
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation, Dysphagia OMIM:618233
Spinal muscular atrophy, type I, with congenital bone fractures
Degeneration of anterior horn cells OMIM:271225
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Temporal cortical atrophy, Frontotemporal cerebral atroph... ORPHA:100070
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Respiratory insufficiency, Dysphagia OMIM:618226
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... OMIM:619751
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Agitation, Bruxism, Recurrent hand flapping, Hyperventilation OMIM:617903
Hyperekplexia 3
Respiratory arrest, Exaggerated startle response, Apnea OMIM:614618
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Dysphagia OMIM:304700
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia, Dysphagia, Abnormal repetitive mannerisms ORPHA:79264
Pontocerebellar Hypoplasia, Type 6
Apnea, Death in childhood OMIM:611523
Benign Familial Neonatal Epilepsy
Apnea ORPHA:1949
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Syringomyelia, Apnea ORPHA:137754
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Respiratory insufficiency OMIM:300673
Classic Pantothenate Kinase-Associated Neurodegeneration
Cough, Attention deficit hyperactivity disorder, Dysphagia, Aspiration pneumonia, Abnormal posturing ORPHA:216866
Nemaline Myopathy 2
Respiratory insufficiency due to muscle weakness, Apnea, Dysphagia OMIM:256030
Mitochondrial Complex I Deficiency, Nuclear Type 6
Apnea, Respiratory insufficiency OMIM:618228
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Pontocerebellar Hypoplasia, Type 16
Apnea, Dysphagia OMIM:619527
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis ORPHA:300605
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Glutamine Deficiency, Congenital
Neonatal death, Neonatal respiratory distress, Apnea OMIM:610015
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... ORPHA:2257
Benign Familial Neonatal-Infantile Seizures
Apnea ORPHA:140927
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Exaggerated startle response, Agitation, Apnea OMIM:618056
Benign Familial Infantile Epilepsy
Apnea ORPHA:306
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea OMIM:619048
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea, Dysphagia OMIM:617143
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Dysphagia OMIM:618253
Joubert Syndrome 33
Apnea OMIM:617767
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Pontocerebellar Hypoplasia Type 2
Impaired oropharyngeal swallow response, Apnea, Oral-pharyngeal dysphagia ORPHA:2524
Hyperekplexia 1
Aspiration, Exaggerated startle response, Apnea OMIM:149400
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Combined Oxidative Phosphorylation Deficiency 57
Neonatal death, Death in infancy, Apnea, Central hypoventilation OMIM:620167
Congenital Myopathy 11
Neonatal respiratory distress, Apneic episodes in infancy OMIM:619967
Myotonia Fluctuans
Stridor, Apnea, Choking episodes ORPHA:99734
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea ORPHA:71277
48,Xxyy Syndrome
Abnormal repetitive mannerisms, Asthma, Apnea, Attention deficit hyperactivity disorder ORPHA:10
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea, Dysphagia ORPHA:163961
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea ORPHA:320385
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea OMIM:619797
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea OMIM:615031
Joubert Syndrome 7
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:611560
Hypophosphatasia, Infantile
Death in infancy, Stillbirth, Apnea, Anorexia OMIM:241500
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Corpus callosum atrophy OMIM:601162
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Death in infancy, Apnea OMIM:614498
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disord... OMIM:619580
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Apnea, Bruxism OMIM:300055
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea OMIM:614883
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea, Exaggerated startle response, Dysphagia OMIM:617301
Developmental And Epileptic Encephalopathy 99
Central apnea OMIM:619606
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Congenital Tracheomalacia
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... ORPHA:95430
Congenital Disorder Of Glycosylation, Type Ij
Apnea, Respiratory insufficiency, Aggressive behavior OMIM:608093
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Abnormal posturing, Tachypnea OMIM:614857
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Apnea, Hyperventilation OMIM:229700
Rett Syndrome
Apnea, Bruxism, Stereotypical hand wringing, Intermittent hyperventilation OMIM:312750
Huntington Disease-Like 1
Restlessness, Abnormal posturing ORPHA:157941
D-2-Hydroxyglutaric Aciduria 1
Apnea, Inspiratory stridor OMIM:600721
Pseudo-Torch Syndrome 3
Death in infancy, Apnea, Respiratory insufficiency OMIM:618886
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Central apnea, Dysphagia, Compulsive behaviors, Aggressive behavior OMIM:615157
Fatal Familial Insomnia
Apnea, Dysphagia OMIM:600072
Gaucher Disease, Type Ii
Death in infancy, Apnea, Dysphagia, Stridor, Cough, Recurrent aspiration pneumonia OMIM:230900
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Optic atrophy, Cerebellar atrophy, Neurodegeneration OMIM:614298
Hypoadrenocorticism, Familial
Apnea OMIM:240200
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy OMIM:301058
Joubert Syndrome 3
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608629
Infantile Neuroaxonal Dystrophy
Hyperactivity, Impulsivity, Apneic episodes in infancy, Aspiration pneumonia, Choking episodes ORPHA:35069
Developmental And Epileptic Encephalopathy 101
Apnea OMIM:619814
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Tongue thrusting, Apnea, Cardiorespiratory arrest OMIM:608643
Propionic Acidemia
Tachypnea, Apnea OMIM:606054
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Congenital Myasthenic Syndrome
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... ORPHA:98914
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea OMIM:314580
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Spina bifid... OMIM:618291
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Respiratory insufficiency OMIM:614462
Coach Syndrome 2
Apneic episodes in infancy OMIM:619111
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Neonatal death, Dysphagia OMIM:608013
Auriculocondylar Syndrome 1
Apnea OMIM:602483
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea OMIM:612949
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Hypopnea, Respiratory failure, Dysphagia, Neonatal death, Respiratory ar... OMIM:617248
Illum Syndrome
Apnea OMIM:208155
Japanese Encephalitis
Decreased motor nerve conduction velocity, Hyperintensity of MRI T2 signal of the spinal cord, Fa... ORPHA:79139
Glass Syndrome
Restlessness, Hyperactivity, Apnea, Aggressive behavior, Frequent temper tantrums OMIM:612313
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apneic episodes in infancy, Apnea, Hypercapnia, Respiratory insufficiency OMIM:618222
Joubert Syndrome
Apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:475
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Apnea, Respiratory insufficiency, Dysphagia OMIM:617527
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Dysphagia, Titubation ORPHA:225147
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Exaggerated startle response, Apnea, Respiratory insuffi... ORPHA:521426
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation OMIM:209880
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... OMIM:608836
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivit... ORPHA:2131
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Dysphagia OMIM:128100
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... OMIM:616482
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Kcnq2-Related Epileptic Encephalopathy
Apnea ORPHA:439218
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia, Dysphagia OMIM:619482
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea, Death in childhood OMIM:214110
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... OMIM:618426
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea ORPHA:2318
Biotinidase Deficiency
Respiratory distress, Myelopathy, Apnea, Hyperventilation ORPHA:79241
Joubert Syndrome With Renal Defect
Apnea, Abnormal pattern of respiration ORPHA:220497
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea OMIM:210200
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea OMIM:261680
Joubert Syndrome With Ocular Defect
Apnea, Abnormal pattern of respiration ORPHA:220493
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Orofaciodigital Syndrome Xvi
Apnea OMIM:617563
Stuve-Wiedemann Syndrome 1
Death in infancy, Apnea, Respiratory insufficiency, Dysphagia, Pulmonary arterial hypertension OMIM:601559
Unilateral Polymicrogyria
Abnormal posturing, Apnea, Epistaxis, Pseudobulbar paralysis ORPHA:268943
Tenorio Syndrome
Recurrent pneumonia, Apnea OMIM:616260
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea ORPHA:79644
Joubert Syndrome 1
Central apnea, Hyperactivity, Episodic tachypnea, Aggressive behavior, Self-mutilation, Neonatal ... OMIM:213300
Autosomal Recessive Spastic Paraplegia Type 77
Neuromuscular dysphagia, Sudden episodic apnea ORPHA:466722
3-Hydroxy-3-Methylglutaric Aciduria
Tachypnea, Apnea, Anorexia ORPHA:20
Severe X-Linked Intellectual Disability, Gustavson Type
Apneic episodes in infancy ORPHA:3078
Pontocerebellar Hypoplasia, Type 7
Apnea OMIM:614969
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Atrophy of the spinal cord, Apnea ORPHA:395
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea ORPHA:79330
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dyspnea, Episodic respiratory distress, Dysphagia, Hyperventilation ORPHA:255210
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea, Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessiv... ORPHA:98793
Intellectual Developmental Disorder, Autosomal Dominant 54
Apnea, Bruxism, Aggressive behavior, Hyperventilation OMIM:617799
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea, Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessiv... ORPHA:177904
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Stridor, Aspiration, Neonatal respiratory distress, Apnea OMIM:614653
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea, Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessiv... ORPHA:177901
Marshall-Smith Syndrome
Apnea, Stridor, Death in childhood, Aspiration pneumonia, Cervical cord compression, Pulmonary ar... OMIM:602535
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Apnea, Recurrent aspiration pneumonia, Chronic lung disease ORPHA:397715
Joubert Syndrome 21
Apnea, Dyspnea, Respiratory failure, Dysphagia, Chronic sinusitis OMIM:615636
Necrotizing Enterocolitis
Apnea ORPHA:391673
Biotinidase Deficiency
Tachypnea, Apnea OMIM:253260
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea, Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Polyphagia ORPHA:98754
Joubert Syndrome With Hepatic Defect
Apnea, Abnormal pattern of respiration ORPHA:1454
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Repetitive compulsive behavior, Self-biting, Abnormal repetitive mannerisms, Self-... ORPHA:522077
Hermansky-Pudlak Syndrome 10
Apnea OMIM:617050
Mucopolysaccharidosis Type 1
Sinusitis, Apnea, Cough ORPHA:579
Schwartz-Jampel Syndrome
Death in infancy, Apnea, Respiratory insufficiency, Attention deficit hyperactivity disorder, Pul... ORPHA:800
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Aggressive behavior ORPHA:17
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea ORPHA:2754
Genitopatellar Syndrome
Apnea ORPHA:85201
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Sandifer Syndrome
Abnormal posturing ORPHA:71272
Bilateral Perisylvian Polymicrogyria
Aspiration, Pseudobulbar paralysis, Apnea, Dysphagia ORPHA:98889
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:252010
Joubert Syndrome 2
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608091
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Spinal dysraphism, Stri... OMIM:114290
Joubert Syndrome 5
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation, Aggressive behavior OMIM:610188
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency OMIM:617239
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Spina bifida occulta, Apnea OMIM:300373
Pancreatic And Cerebellar Agenesis
Death in infancy, Apnea OMIM:609069
Ogden Syndrome
Apnea, Pulmonary arterial hypertension, Restrictive ventilatory defect, Dysphagia, Aspiration, Ab... OMIM:300855
Shprintzen-Goldberg Syndrome
Apnea ORPHA:2462
Xp21 Deletion Syndrome
Apneic episodes in infancy ORPHA:261476
Chronic Bilirubin Encephalopathy
Central apnea ORPHA:529808
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pleural effusion, Apnea OMIM:261740
Acute Bilirubin Encephalopathy
Central apnea ORPHA:529799
Wolfram Syndrome
Central apnea, Polydipsia, Respiratory insufficiency ORPHA:3463
Vici Syndrome
Abnormal posturing, Dysphagia OMIM:242840
Tarp Syndrome
Apnea ORPHA:2886
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Exaggerated startle response, Apnea, Breathing dysregulation, Aspiration pneumon... ORPHA:438213
Mosaic Variegated Aneuploidy Syndrome
Apnea ORPHA:1052
Bohring-Opitz Syndrome
Apnea ORPHA:97297
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Neonatal respiratory distress, Apnea, Impulsivity, Asthma, Dysphagia, Stereotypical body rocking,... OMIM:619503
Semilobar Holoprosencephaly
Central apnea, Aspiration pneumonia, Dysphagia, Attention deficit hyperactivity disorder, Abnorma... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Aspiration pneumonia, Dysphagia, Attention deficit hyperactivity disorder, Abnorma... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Aspiration pneumonia, Dysphagia, Attention deficit hyperactivity disorder, Abnorma... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Aspiration pneumonia, Dysphagia, Attention deficit hyperactivity disorder, Abnorma... ORPHA:93924
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Apnea, Chronic rhinitis ORPHA:667
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea ORPHA:3206
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Diethylstilbestrol Syndrome
Central apnea ORPHA:1916
Slc39A8-Cdg
Sudden episodic apnea ORPHA:468699
Hypermobile Ehlers-Danlos Syndrome
Apnea ORPHA:285
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... ORPHA:99125
Molybdenum Cofactor Deficiency, Complementation Group C
Neonatal death OMIM:615501
Pallister-Killian Syndrome
Stillbirth, Apneic episodes in infancy, Tethered cord, Hyperventilation OMIM:601803
Hereditary Hyperekplexia
ORPHA:3197

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 Gphn

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 Gphn.

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

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MGI Allele Allele Type Produced
Gphnem1(IMPC)Ics Deletion Mice

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