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

IMPC Data Collections

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

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.

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, Type 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)
Motor conduction block, Abnormal motor neuron morphology 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 16, Juvenile
Amyotrophic lateral sclerosis OMIM:614373
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:608030
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Cerebral atrophy, Amyotrophic lateral sclerosis OMIM:105500
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells 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
Caudate atrophy, Amyotrophic lateral sclerosis, Hippocampal atrophy OMIM:617892
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Decreased compound muscle action potential amplitude, Axonal degen... OMIM:602433
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Amyotrophic lateral sclerosis OMIM:616437
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... 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
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, Neuronal loss in central nervous system, Cerebral atrophy... 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
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Global brain atrophy, Amyotrophic lateral sclerosis OMIM:619132
Progressive Non-Fluent Aphasia
EEG with continuous slow activity, Temporal cortical atrophy, Frontotemporal cerebral atrophy, Ab... ORPHA:100070
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Cer... OMIM:606353
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Abnormal upper motor neuron morphology, Chorioretinal dystrophy, Spinocerebel... OMIM:215470
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
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:606070
Spinal Muscular Atrophy, X-Linked 2
Facial palsy, Decreased compound muscle action potential amplitude, Degeneration of anterior horn... OMIM:301830
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
Cerebral cortical atrophy, Amyotrophic lateral sclerosis OMIM:615911
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Apnea, Neonatal death OMIM:615228
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Facial palsy, Degeneration of anterior horn cells OMIM:159950
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Axonal degeneration OMIM:604484
Amyotrophic Lateral Sclerosis 8
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:608627
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:254210
Dystonia 31
Dysphagia, Abnormal posturing OMIM:619565
Spinal Muscular Atrophy, Type Iv
Degeneration of anterior horn cells OMIM:271150
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Facial diplegia, ... OMIM:611890
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cranial nerve compression, Brain atrophy, Amyotrophic lateral sclerosis, Abnormal motor neuron mo... ORPHA:52430
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Cerebral cortical atrophy, Degeneration of anterior horn cells ORPHA:2254
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:605809
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Phosphoserine Aminotransferase Deficiency
Apnea, Death in infancy OMIM:610992
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Death in infancy OMIM:613869
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Orthostatic hypotension OMIM:263570
Ravine Syndrome
Apnea, Anorexia ORPHA:99852
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Caudate atrophy, EEG abnormality, Cerebral atrophy OMIM:221770
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy OMIM:611722
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis ORPHA:600
Pontocerebellar Hypoplasia, Type 1A
Cerebral cortical atrophy, Degeneration of anterior horn cells OMIM:607596
Seizures, Benign Familial Infantile, 3
Apnea OMIM:607745
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Global brain atro... ORPHA:275872
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Amyotrophic Lateral Sclerosis
Neurodegeneration, Motor neuron atrophy, Amyotrophic lateral sclerosis ORPHA:803
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Delayed somatosen... OMIM:205100
Myoclonus, Intractable, Neonatal
Apnea, Dysphagia, Impaired oral bolus formation OMIM:617235
Seizures, Benign Familial Infantile, 1
Apnea OMIM:601764
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Degeneration of anterior horn cells 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
Decreased nerve conduction velocity, Degeneration of anterior horn cells, Axonal degeneration OMIM:604320
Auriculocondylar Syndrome 4
Apnea OMIM:620457
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology ORPHA:2590
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Congenital Myopathy 14
Apnea, Death in infancy OMIM:618414
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Death in infancy OMIM:616277
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Pontocerebellar Hypoplasia Type 4
Central apnea ORPHA:166063
Machado-Joseph Disease Type 3
Degeneration of the striatum, Cerebellar atrophy, Spinocerebellar tract degeneration, Abnormal lo... ORPHA:276244
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions ORPHA:137935
Idiopathic Camptocormia
Syringomyelia, Myelitis, Cerebral atrophy, Amyotrophic lateral sclerosis ORPHA:1320
Leukodystrophy, Hypomyelinating, 4
Apnea, Head titubation OMIM:612233
Atypical Rett Syndrome
Restrictive behavior, Abnormal pattern of respiration, Episodic tachypnea, Inappropriate laughter... ORPHA:3095
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Death in childhood OMIM:618225
Developmental And Epileptic Encephalopathy 61
Apnea OMIM:617933
Spinal muscular atrophy, type I, with congenital bone fractures
Degeneration of anterior horn cells OMIM:271225
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Death in infancy OMIM:618235
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Neonatal death OMIM:610127
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Dysphagia OMIM:618198
Severe Neonatal-Onset Encephalopathy With Microcephaly
Apnea ORPHA:209370
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Mohr-Tranebjaerg Syndrome
Dysphagia, Abnormal posturing OMIM:304700
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Bruxism, Apnea, Recurrent hand flapping, Hyperventilation, Agitation OMIM:617903
Benign Familial Neonatal Epilepsy
Apnea ORPHA:1949
Pontocerebellar Hypoplasia, Type 6
Apnea, Death in childhood OMIM:611523
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Syringomyelia, Apnea ORPHA:137754
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Central hypoventilation OMIM:619483
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Apnea OMIM:617290
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth, Dysphagia OMIM:619751
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Dysphagia OMIM:618226
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis ORPHA:300605
Pontocerebellar Hypoplasia, Type 16
Apnea, Dysphagia OMIM:619527
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Dysphagia, Central hypoventilation OMIM:618233
Juvenile Neuronal Ceroid Lipofuscinosis
Episodic tachypnea, Apnea, Dysphagia, Motor stereotypy ORPHA:79264
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Benign Familial Neonatal-Infantile Seizures
Apnea ORPHA:140927
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Apnea, Agitation, Exaggerated startle response OMIM:618056
Nemaline Myopathy 2
Apnea, Dysphagia OMIM:256030
Pontocerebellar Hypoplasia Type 2
Apnea, Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia ORPHA:2524
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea OMIM:619048
Joubert Syndrome 33
Apnea OMIM:617767
Benign Familial Infantile Epilepsy
Apnea ORPHA:306
Joubert Syndrome 9
Episodic tachypnea, Apnea OMIM:612285
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Death in infancy, Neonatal death, Tachypnea, Dyspnea OMIM:265120
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Combined Oxidative Phosphorylation Deficiency 57
Neonatal death, Apnea, Death in infancy, Central hypoventilation OMIM:620167
Hyperekplexia 3
Apnea, Exaggerated startle response OMIM:614618
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Mitochondrial Complex I Deficiency, Nuclear Type 6
Apnea OMIM:618228
Glutamine Deficiency, Congenital
Apnea, Neonatal death OMIM:610015
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea ORPHA:71277
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea ORPHA:320385
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation OMIM:300673
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea OMIM:619797
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Abnormal pattern of respiration, Exaggerated startle response OMIM:608800
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea OMIM:615031
48,Xxyy Syndrome
Attention deficit hyperactivity disorder, Apnea, Motor stereotypy ORPHA:10
Myasthenic Syndrome, Congenital, 20, Presynaptic
Apnea, Dysphagia, Hypoventilation OMIM:617143
Hypophosphatasia, Infantile
Apnea, Stillbirth, Death in infancy, Anorexia OMIM:241500
Bronchopulmonary Dysplasia
Respiratory distress, Dyspnea, Central apnea ORPHA:70589
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Corpus callosum atrophy OMIM:601162
Myotonia Fluctuans
Choking episodes, Apnea ORPHA:99734
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea, Death in infancy OMIM:614498
Congenital Neuronal Ceroid Lipofuscinosis
Apnea ORPHA:168486
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperactivity disorder, To... OMIM:619580
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea, Dysphagia ORPHA:163961
Congenital Myopathy 11
Apneic episodes in infancy OMIM:619967
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Bruxism, Apnea, Restlessness OMIM:300055
Hyperekplexia 1
Apnea, Exaggerated startle response OMIM:149400
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exertional dyspnea, Dys... OMIM:610921
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Dysphagia OMIM:618253
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea OMIM:614883
Joubert Syndrome 7
Episodic tachypnea, Tachypnea, Central apnea OMIM:611560
Classic Pantothenate Kinase-Associated Neurodegeneration
Attention deficit hyperactivity disorder, Dysphagia, Abnormal posturing ORPHA:216866
Developmental And Epileptic Encephalopathy 99
Central apnea OMIM:619606
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Huntington Disease-Like 1
Restlessness, Abnormal posturing ORPHA:157941
Rett Syndrome
Intermittent hyperventilation, Bruxism, Apnea, Stereotypical hand wringing OMIM:312750
Fatal Familial Insomnia
Apnea, Dysphagia OMIM:600072
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Hyperventilation, Apnea OMIM:229700
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Compulsive behaviors, Aggressive behavior, Central apnea, Dysphagia OMIM:615157
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Dysphagia, Exaggerated startle response OMIM:617301
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea, Abnormal posturing OMIM:614857
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy OMIM:301058
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 101
Apnea OMIM:619814
Propionic Acidemia
Tachypnea, Apnea OMIM:606054
Congenital Disorder Of Glycosylation, Type Ij
Aggressive behavior, Apnea OMIM:608093
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
D-2-Hydroxyglutaric Aciduria 1
Apnea OMIM:600721
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Choking episodes, Hyperactivity, Impulsivity ORPHA:35069
Auriculocondylar Syndrome 1
Apnea OMIM:602483
Pseudo-Torch Syndrome 3
Apnea, Death in infancy OMIM:618886
Coach Syndrome 2
Apneic episodes in infancy OMIM:619111
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Dysphagia, Neonatal death OMIM:608013
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea OMIM:612949
Japanese Encephalitis
Decreased motor nerve conduction velocity, EEG with burst suppression, EEG abnormality, Intericta... ORPHA:79139
Joubert Syndrome 3
Episodic tachypnea, Central apnea OMIM:608629
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Combined Oxidative Phosphorylation Deficiency 59
Attention deficit hyperactivity disorder, Apnea OMIM:620646
Glass Syndrome
Frequent temper tantrums, Apnea, Aggressive behavior, Hyperactivity, Restlessness OMIM:612313
Wieacker-Wolff Syndrome
Apnea OMIM:314580
Aromatic L-Amino Acid Decarboxylase Deficiency
Tongue thrusting, Apnea, Exaggerated startle response OMIM:608643
Primary Pulmonary Hypoplasia
Tachypnea, Apnea ORPHA:2257
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Hypoventilation ORPHA:314655
Illum Syndrome
Apnea OMIM:208155
Joubert Syndrome
Episodic tachypnea, Apnea, Abnormal pattern of respiration ORPHA:475
Sporadic Infantile Bilateral Striatal Necrosis
Dysphagia, Titubation, Abnormal posturing ORPHA:225147
Dystonia 1, Torsion, Autosomal Dominant
Dysphagia, Abnormal posturing OMIM:128100
Multiple Mitochondrial Dysfunctions Syndrome 7
Apnea, Agitation, Hyperactivity, Exaggerated startle response, Impulsivity OMIM:620423
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan... ORPHA:348
Kcnq2-Related Epileptic Encephalopathy
Apnea ORPHA:439218
Congenital Myasthenic Syndrome
Episodic respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Choking ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Choking ... ORPHA:98914
Myotonia, Potassium-Aggravated
Apneic episodes in infancy OMIM:608390
Alternating Hemiplegia Of Childhood
Oral-pharyngeal dysphagia, Respiratory distress, Apnea, Aggressive behavior, Anorexia, Dysphagia,... ORPHA:2131
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Central apnea OMIM:618291
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Apnea, Dysphagia, Exaggerated startle response OMIM:617527
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea, Death in childhood OMIM:214110
Plaa-Associated Neurodevelopmental Disorder
Apnea, Impaired oropharyngeal swallow response, Exaggerated startle response ORPHA:521426
Gaucher Disease, Type Ii
Apnea, Dysphagia, Death in infancy OMIM:230900
Biotinidase Deficiency
Respiratory distress, Hyperventilation, Apnea, Myelopathy ORPHA:79241
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea OMIM:614462
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea ORPHA:2318
Joubert Syndrome With Renal Defect
Apnea, Abnormal pattern of respiration ORPHA:220497
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea OMIM:210200
3-Methylglutaconic Aciduria, Type Viii
Hypopnea, Apnea, Death in infancy, Neonatal death, Dysphagia OMIM:617248
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea OMIM:261680
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Neonatal death OMIM:616482
Joubert Syndrome With Ocular Defect
Apnea, Abnormal pattern of respiration ORPHA:220493
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea ORPHA:79644
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Death in infancy OMIM:608836
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy OMIM:618426
Orofaciodigital Syndrome Xvi
Apnea OMIM:617563
3-Hydroxy-3-Methylglutaric Aciduria
Tachypnea, Apnea, Anorexia ORPHA:20
Mogs-Cdg
Respiratory distress, Apnea, Hypoventilation ORPHA:79330
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Episodic respiratory distress, Dyspnea, Hyperventilation, Dysphagia ORPHA:255210
Autosomal Recessive Spastic Paraplegia Type 77
Neuromuscular dysphagia, Sudden episodic apnea ORPHA:466722
Pontocerebellar Hypoplasia, Type 7
Apnea OMIM:614969
Central Hypoventilation Syndrome, Congenital, 1
Nocturnal hypoventilation, Apnea, Hypoventilation, Central hypoventilation OMIM:209880
Severe X-Linked Intellectual Disability, Gustavson Type
Apneic episodes in infancy ORPHA:3078
Unilateral Polymicrogyria
Apnea, Abnormal posturing, Pseudobulbar paralysis ORPHA:268943
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Self-injurious behavior, Abnormal temper tantrums, Bulimia, Obsessive-compulsive trait, Polyphagi... ORPHA:98793
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Apnea, Atrophy of the spinal cord ORPHA:395
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Apnea, Hypopnea, Dysphagia, Hypoventilation OMIM:619482
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Self-injurious behavior, Abnormal temper tantrums, Bulimia, Obsessive-compulsive trait, Polyphagi... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Self-injurious behavior, Abnormal temper tantrums, Bulimia, Obsessive-compulsive trait, Polyphagi... ORPHA:177901
Joubert Syndrome 1
Episodic tachypnea, Self-mutilation, Aggressive behavior, Central apnea, Hyperactivity OMIM:213300
Intellectual Developmental Disorder, Autosomal Dominant 54
Hyperventilation, Apnea, Aggressive behavior, Bruxism OMIM:617799
Tenorio Syndrome
Apnea OMIM:616260
Stuve-Wiedemann Syndrome 1
Apnea, Dysphagia, Death in infancy OMIM:601559
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Self-injurious behavior, Abnormal temper tantrums, Bulimia, Polyphagia, Skin-picking, Central apnea ORPHA:98754
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apneic episodes in infancy, Apnea OMIM:618222
Biotinidase Deficiency
Tachypnea, Apnea OMIM:253260
Joubert Syndrome With Hepatic Defect
Apnea, Abnormal pattern of respiration ORPHA:1454
Necrotizing Enterocolitis
Apnea ORPHA:391673
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-mutilation, Repetitive compulsive behavior, Central apnea, Self-biting, Hyperventilation, Mo... ORPHA:522077
Hermansky-Pudlak Syndrome 10
Apnea OMIM:617050
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Apnea ORPHA:397715
Brachytelephalangic Chondrodysplasia Punctata
Tachypnea, Central apnea, Cervical cord compression ORPHA:79345
Sandifer Syndrome
Abnormal posturing ORPHA:71272
Marshall-Smith Syndrome
Apnea, Cervical cord compression, Death in childhood OMIM:602535
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Aggressive behavior, Apnea ORPHA:17
Orofaciodigital Syndrome Type 6
Episodic tachypnea, Apnea ORPHA:2754
Genitopatellar Syndrome
Apnea ORPHA:85201
Mucopolysaccharidosis Type 1
Apnea ORPHA:579
Joubert Syndrome 21
Dyspnea, Apnea, Dysphagia OMIM:615636
Schwartz-Jampel Syndrome
Attention deficit hyperactivity disorder, Apnea, Death in infancy ORPHA:800
Pancreatic And Cerebellar Agenesis
Apnea, Death in infancy OMIM:609069
Joubert Syndrome 2
Episodic tachypnea, Central apnea OMIM:608091
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Apnea OMIM:614653
Bilateral Perisylvian Polymicrogyria
Apnea, Dysphagia, Pseudobulbar paralysis ORPHA:98889
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea ORPHA:159
Osteopathia Striata With Cranial Sclerosis
Spina bifida occulta, Apnea OMIM:300373
Shprintzen-Goldberg Syndrome
Apnea ORPHA:2462
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Death in infancy OMIM:252010
Chronic Bilirubin Encephalopathy
Central apnea ORPHA:529808
Acute Bilirubin Encephalopathy
Central apnea ORPHA:529799
Xp21 Deletion Syndrome
Apneic episodes in infancy ORPHA:261476
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea OMIM:261740
Joubert Syndrome 5
Episodic tachypnea, Central apnea, Aggressive behavior OMIM:610188
Vici Syndrome
Dysphagia, Abnormal posturing OMIM:242840
Congenital Tracheomalacia
Dyspnea, Apnea, Intercostal retractions ORPHA:95430
Ogden Syndrome
Apnea, Motor stereotypy, Dysphagia OMIM:300855
Campomelic Dysplasia
Respiratory distress, Apnea, Spinal dysraphism, Spina bifida OMIM:114290
Tarp Syndrome
Apnea ORPHA:2886
Mosaic Variegated Aneuploidy Syndrome
Apnea ORPHA:1052
Bohring-Opitz Syndrome
Apnea ORPHA:97297
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea OMIM:617239
Wolfram Syndrome
Polydipsia, Central apnea ORPHA:3463
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Apnea, Hypoventilation, Stereotypical hand wringing, Exaggerated startle response, Dysphagia ORPHA:438213
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Slc39A8-Cdg
Sudden episodic apnea ORPHA:468699
Diethylstilbestrol Syndrome
Central apnea ORPHA:1916
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Bruxism, Stereotypical body rocking, Apnea, Dysphagia, Impulsivity OMIM:619503
Semilobar Holoprosencephaly
Attention deficit hyperactivity disorder, Central apnea, Dysphagia, Abnormal pattern of respiration ORPHA:220386
Alobar Holoprosencephaly
Attention deficit hyperactivity disorder, Central apnea, Dysphagia, Abnormal pattern of respiration ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Attention deficit hyperactivity disorder, Central apnea, Dysphagia, Abnormal pattern of respiration ORPHA:93926
Lobar Holoprosencephaly
Attention deficit hyperactivity disorder, Central apnea, Dysphagia, Abnormal pattern of respiration ORPHA:93924
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea ORPHA:3206
Autosomal Recessive Malignant Osteopetrosis
Apnea ORPHA:667
Hypermobile Ehlers-Danlos Syndrome
Apnea ORPHA:285
Pallister-Killian Syndrome
Apneic episodes in infancy, Hyperventilation, Tethered cord, Stillbirth OMIM:601803
Molybdenum Cofactor Deficiency, Type C
Neonatal death OMIM:615501
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Exertional dyspnea, Paroxysmal dyspnea, Apneic episodes in infancy ORPHA:99125
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.

Order Mouse and ES Cells

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

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