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Gene: Gnb1 MGI:95781

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Gene Summary

Name:
guanine nucleotide binding protein (G protein), beta 1
Synonyms:
N/A

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Gnb1em1(IMPC)Bay HOM   Early adult 0.00
decreased total retina thickness Gnb1em1(IMPC)Bay HET Early adult 3.52×10-06
decreased anxiety-related response Gnb1em1(IMPC)Bay HET   Early adult 6.85×10-05
facial cleft Gnb1em1(IMPC)Bay HOM E18.5 0.00
increased vertical activity Gnb1em1(IMPC)Bay HET Early adult 4.89×10-07
hyperactivity Gnb1em1(IMPC)Bay HET   Early adult 2.49×10-11
abnormal retina outer nuclear layer morphology Gnb1em1(IMPC)Bay HET Early adult 9.35×10-07
increased bone mineral content Gnb1em1(IMPC)Bay HET   Early adult 5.47×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

VIP of right fundus

15 Images

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Eye Morphology

VIP of right eye

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

VIP of left fundus

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

VIP of left eye

15 Images

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X-ray

XRay Images Forepaw

10 Images

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MicroCT E18.5

Embryo reconstruction

6 Images

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Human diseases caused by Gnb1 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 Gnb1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 42
Inability to walk, Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior OMIM:616973
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Polymicrogyria ORPHA:488613
Myelodysplastic Syndrome
OMIM:614286
Leukemia, Acute Lymphoblastic
OMIM:613065

The table below shows human diseases predicted to be associated to Gnb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Depression, Attention deficit hyperactivity disorder OMIM:613003
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Autism, Susceptibility To, X-Linked 4
Impulsivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:300830
Familial Alzheimer-Like Prion Disease
Depression, Anxiety, Attention deficit hyperactivity disorder, Emotional lability ORPHA:280397
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Intellectual Developmental Disorder, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Facial Clefting, Oblique, 1
Facial cleft OMIM:600251
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Supernumerary Nostril
Facial cleft ORPHA:141096
Morm Syndrome
Aggressive behavior, Hyperactivity, Retinal atrophy, Retinal dystrophy ORPHA:75858
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Immunodeficiency 8
Hyperactivity OMIM:615401
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Fryns Microphthalmia Syndrome
Facial cleft OMIM:600776
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Anxiety, Difficulty walking, Attention deficit hyperactivity disorder OMIM:619191
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Insulin-Like Growth Factor I Deficiency
Osteopenia, Hyperactivity OMIM:608747
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Dysphagi... ORPHA:266
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Frontonasal Dysplasia 3
Facial cleft OMIM:613456
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Spinal Muscular Atrophy, Type I
Death in childhood, Respiratory insufficiency, Respiratory failure OMIM:253300
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity OMIM:300928
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity, Impulsivity OMIM:617113
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dysphagia, Dyspn... ORPHA:90117
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity OMIM:619970
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Hyperactivity, Aggressive behavior OMIM:619470
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Hyperactivity, Aggressive behavior OMIM:604317
Nemaline Myopathy 8
Dysphagia, Respiratory failure, Death in infancy OMIM:615348
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Facial cleft OMIM:601357
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Ataxia, Hyperactivity, Aggressive behavior OMIM:300983
Glycine Encephalopathy
Impulsivity, Hyperactivity, Aggressive behavior, Irritability OMIM:605899
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Neonatal death, Abnormal anterior horn cell morphology, R... OMIM:611890
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Aggressive behavior OMIM:309548
Fraxe Intellectual Disability
Impulsivity, Hyperactivity, Aggressive behavior ORPHA:100973
Pontocerebellar Hypoplasia, Type 4
Dysphagia, Respiratory failure, Death in infancy OMIM:225753
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Anophthalmia Plus Syndrome
Facial cleft ORPHA:1104
Acrofacial Dysostosis, Weyers Type
Facial cleft ORPHA:952
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Dysphagia, Respi... OMIM:614399
Hyperprolinemia, Type I
Ataxia, Hyperactivity, Aggressive behavior OMIM:239500
Phenylketonuria
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... OMIM:261600
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure OMIM:616081
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Respiratory failure, Polymicrogyria OMIM:618291
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Neonatal respiratory distress, Pachygyria, Respiratory failure, Agene... ORPHA:168486
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Hypertelorism, Microtia, Facial Clefting Syndrome
Facial cleft OMIM:239800
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Recurrent aspiration pneumonia, Dysphagia, Respiratory fa... ORPHA:2590
Oculomaxillofacial Dysostosis
Facial cleft ORPHA:1794
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Facial cleft OMIM:607597
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Inability to walk, Hyperactivity, Dysmetria OMIM:618090
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Dysphagia, Ventilator depen... ORPHA:254875
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Respiratory failure OMIM:618637
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Shuffling gait, Aggressi... ORPHA:3077
Cerebrooculonasal Syndrome
Facial cleft ORPHA:66625
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory insufficiency, Respiratory failure OMIM:613869
Lennox-Gastaut Syndrome
Personality disorder, Hyperactivity, Aggressive behavior, Falls ORPHA:2382
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Dysphagia, Amyotrophic lateral sclerosis, Respiratory failure OMIM:613435
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Bipolar affective disorder, Hyperactivity OMIM:619927
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Anxiety, Aggressive behavior OMIM:609425
Hyperekplexia 4
Respiratory failure, Umbilical hernia OMIM:618011
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Respiratory failure, Communicating hydrocephalus OMIM:273730
Landau-Kleffner Syndrome
Hyperactivity, Impulsivity, Depression, Anxiety, Gait ataxia, Attention deficit hyperactivity dis... ORPHA:98818
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior ORPHA:382
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Depression, Gait ataxia, ... ORPHA:248111
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:228940
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Frontofacionasal Dysplasia
Facial cleft ORPHA:1791
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:605711
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Dysphagia, Respiratory failure, Abnormal cortical gyration OMIM:616867
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Death in infancy OMIM:616277
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Neonatal death, Death in infancy, Neonatal respira... OMIM:245400
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Inappropriate behavior, Self-biting, Nail-biting, Attenti... OMIM:619827
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress OMIM:619057
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Hyperactivity OMIM:274270
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Death in infancy OMIM:617248
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Aggressive behavior OMIM:619467
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:614299
Oculocerebrocutaneous Syndrome
Facial cleft ORPHA:1647
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Arthrogryposis Multiplex Congenita 6
Death in childhood, Respiratory failure, Neonatal death, Death in infancy OMIM:619334
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Dysphagia, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Respiratory fai... OMIM:613954
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure, Polymicrogyria OMIM:615330
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:271980
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Choreoathetosis, Hyperactivity, Aggressive behavior OMIM:612716
Asbestos Intoxication
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Wheezing... ORPHA:2302
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Communicating hydrocephalus ORPHA:1861
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior OMIM:301013
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Happy demeanor, Ataxia, Hyperactivity, Inappropriate laughter ORPHA:411515
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure ORPHA:370968
Acrofacial Dysostosis, Catania Type
Facial cleft ORPHA:1786
Optic Atrophy 11
Optic atrophy, Ataxia, Hyperactivity, Dysmetria OMIM:617302
Female Restricted Epilepsy With Intellectual Disability
Impulsivity, Anxiety, Hyperactivity, Aggressive behavior ORPHA:101039
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Self-mutilation OMIM:615516
Intermediate Nemaline Myopathy
Dysphagia, Respiratory failure ORPHA:171433
Ck Syndrome
Abnormal cortical bone morphology, Hyperactivity, Aggressive behavior, Irritability OMIM:300831
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Dysphagia, Respiratory failure, Central sleep apnea, Obstructive sleep apnea ORPHA:70472
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Death in childhood, Myelopathy, Bradypnea, Respiratory failure, Cervical myelopathy OMIM:617186
Pneumocystosis
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... ORPHA:723
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Hyperactivity, Paroxysmal bursts of laughter OMIM:618718
Early-Onset Schizophrenia
Impairment in personality functioning, Abnormal emotion/affect behavior, Depression, Anxiety, Low... ORPHA:96369
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dyspnea, Pulmo... OMIM:265120
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal... ORPHA:2211
Mitochondrial Complex I Deficiency, Nuclear Type 10
Central hypoventilation, Apnea, Dysphagia, Respiratory failure OMIM:618233
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Self-injurious behavior, Progressive cerebellar ataxia, Depression, Anxiety, Aggre... ORPHA:485350
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Hypoxemia, Neonatal death, Tachypnea, Cough, Death in infancy, Neona... OMIM:610921
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dysphagia, Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Hyperactivity, Aggressive behavior ORPHA:369939
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... OMIM:608647
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Cough, Tachypnea OMIM:263000
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Isolated Arrhinia
Facial cleft ORPHA:1134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Agyria, Hydrocephalus, Respiratory failure, Polymicrogyria OMIM:616538
Triopia
Midline facial cleft ORPHA:3374
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Primary Ciliary Dyskinesia
Hydrocephalus, Airway obstruction, Wheezing, Chronic rhinitis, Chronic sinusitis, Productive coug... ORPHA:244
Avian Influenza
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productiv... ORPHA:454836
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Mosaic Trisomy 9
Facial cleft ORPHA:99776
Cln5 Disease
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Dysdiadochokinesis, Anxiety, Truncal ataxia,... ORPHA:228360
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Happy demeanor, Hyperactivity, Unsteady gait OMIM:617865
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Reduced for... OMIM:610913
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Degeneration of anterior horn cells, Tachypnea, Inspiratory stridor, Ventilator dependence with i... OMIM:604320
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy, Polymicrogyria OMIM:610678
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity, Aggressive behavior ORPHA:457260
3Mc Syndrome 3
Facial cleft OMIM:248340
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, Respirator... ORPHA:98913
Central Hypoventilation Syndrome, Congenital, 3
Central hypoventilation, Apnea, Respiratory failure OMIM:619483
Leigh Syndrome
Abnormal pattern of respiration, Respiratory insufficiency, Respiratory failure OMIM:256000
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Impulsivity, Hyperactivity, Gait ataxia, Aggressive behavior ORPHA:500180
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Hyperactivity, Aggressive behavior OMIM:300558
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Facial cleft ORPHA:1236
Acute Lung Injury
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:178320
Constricting Bands, Congenital
Facial cleft OMIM:217100
Acute Interstitial Pneumonia
Hypoxemia, Nonproductive cough, Crackles, Decreased DLCO, Tachypnea, Pleural effusion, Bronchiect... ORPHA:79126
Short Rib-Polydactyly Syndrome
Facial cleft ORPHA:1505
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
Spinocerebellar Ataxia Type 1
Dysphagia, Respiratory failure ORPHA:98755
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory insufficiency, Polymicrogyria, Death in infancy, Neonatal respiratory distress... OMIM:608836
Snakebite Envenomation
Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Respiratory failure, Epis... ORPHA:449285
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Inability to walk, Hyperactivity, Retinal degeneration, Anxiety, Gait disturbance, Aggres... ORPHA:168491
Mycophenolate Mofetil Embryopathy
Facial cleft ORPHA:268249
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Abnormal respiratory system physiology, Motor neuron atrophy, Dysp... ORPHA:803
Infant Acute Respiratory Distress Syndrome
Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Scedosporiosis
Sinusitis, Pleural empyema, Cough, Pneumonia, Abnormal respiratory system physiology, Bronchial b... ORPHA:449280
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Death in childhood, Respiratory failure, Tachypnea OMIM:615838
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Nocturnal hypoventilation, Respiratory failure, Reduced vital capacity OMIM:603689
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure OMIM:609981
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:70578
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure ORPHA:363400
Idiopathic Pulmonary Hemosiderosis
Crackles, Cough, Restrictive ventilatory defect, Dyspnea, Respiratory failure ORPHA:99931
Proximal Spinal Muscular Atrophy
Recurrent aspiration pneumonia, Dysphagia, Restrictive ventilatory defect, Hypoventilation, Neona... ORPHA:70
Brain-Lung-Thyroid Syndrome
Respiratory distress, Asthma, Abnormal eating behavior, Recurrent pneumonia, Abnormal drinking be... ORPHA:209905
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Dysphagia, Restrictive ventilatory defect, Cardiorespiratory arrest, Dys... ORPHA:26791
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Intercostal muscle weakness, Respiratory failure, Obstructive sleep apnea OMIM:606071
Infantile Neuroaxonal Dystrophy
Ataxia, Hyperactivity, Impulsivity, Optic atrophy, Gait disturbance, Unsteady gait, Emotional lab... ORPHA:35069
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Intellectual Developmental Disorder, Autosomal Dominant 7
Happy demeanor, Ataxia, Hyperactivity, Gait disturbance, Inappropriate laughter OMIM:614104
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure OMIM:156530
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Dysphagia, Death in childhood, Respiratory failure OMIM:619847
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Niemann-Pick Disease, Type C2
Death in childhood, Respiratory insufficiency, Dysphagia, Death in infancy, Neonatal respiratory ... OMIM:607625
Treacher-Collins Syndrome
Facial cleft ORPHA:861
Bartsocas-Papas Syndrome 1
Facial cleft OMIM:263650
Peripartum Cardiomyopathy
Asthma, Paroxysmal dyspnea, Crackles, Orthopnea, Dyspnea, Exertional dyspnea, Pulmonary arterial ... ORPHA:563
Gomez-Lopez-Hernandez Syndrome
Ataxia, Self-injurious behavior, Hyperactivity, Craniosynostosis, Depression, Bipolar affective d... OMIM:601853
Alg1-Cdg
Respiratory failure ORPHA:79327
Muscular Dystrophy, Duchenne Type
Respiratory failure, Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency d... OMIM:310200
X-Linked Adrenoleukodystrophy
Inappropriate sexual behavior, Hyperactivity, Gait disturbance, Attention deficit hyperactivity d... ORPHA:43
Chromosome Xq13 Duplication Syndrome
Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Emotional ... OMIM:301069
Frontonasal Dysplasia 2
Tessier number 13 facial cleft OMIM:613451
Adenylosuccinase Deficiency
Happy demeanor, Inability to walk, Hyperactivity, Self-mutilation, Gait ataxia, Aggressive behavi... OMIM:103050
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pachygyria, Respiratory insufficiency, Lissencephaly, Aspiration, Hypoventilation, Dysphagia, Int... ORPHA:258
Otopalatodigital Syndrome, Type Ii
Stillbirth, Respiratory insufficiency, Hydrocephalus, Respiratory failure OMIM:304120
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Dysmetria, Dysdiadochokinesis, Optic atrophy, Gait ataxia, Emotional ... OMIM:610217
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Hydrocephalus, Respiratory failure OMIM:259720
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure OMIM:135100
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity diso... ORPHA:449291
Mucopolysaccharidosis, Type Iiib
Aggressive behavior, Hyperactivity, Dense calvaria OMIM:252920
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Paroxysmal dyspnea, Respiratory failure ORPHA:444013
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Death in childhood, Exertional dyspnea, Respiratory failure, Respiratory in... OMIM:220110
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Intellectual Developmental Disorder, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity OMIM:617600
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Severe Congenital Nemaline Myopathy
Dysphagia, Respiratory failure ORPHA:171430
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Apnea, Central hypoventilation, Dysphagia, Respiratory failure ORPHA:70474
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency, Death in adolescence, Death in infancy, Respirat... OMIM:615512
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:391307
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:613845
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Respiratory failure, Pneumonia ORPHA:98905
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Facial cleft ORPHA:306542
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity, Aggressive behavior OMIM:610042
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Congenital stationary night blindness, Hyperactivity, I... ORPHA:8
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Respiratory failure, Pleural effusion, Tachypnea ORPHA:542323
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure OMIM:602088
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Dense calvaria, Rod-cone dystrophy OMIM:252930
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Macrogyria ORPHA:280210
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
X-Linked Creatine Transporter Deficiency
Self-mutilation, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Leigh Syndrome
Dysphagia, Abnormal pattern of respiration, Respiratory failure, Agenesis of corpus callosum ORPHA:506
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Nonproductive cough, Respiratory insufficiency, Tachypnea, Pneum... ORPHA:60025
Fraser Syndrome 1
Facial cleft OMIM:219000
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dysphagia, Respiratory failure, Recurrent pneumonia, Respiratory failure requiring assisted venti... ORPHA:496641
Angelman Syndrome
Broad-based gait, Happy demeanor, Ataxia, Inability to walk, Hyperactivity, Self-injurious behavi... ORPHA:72
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Apnea, Respiratory failure OMIM:617301
Joubert Syndrome 1
Ataxia, Hyperactivity, Self-mutilation, Retinal dystrophy, Optic disc coloboma, Optic disc pallor... OMIM:213300
Boutonneuse Fever
Respiratory failure ORPHA:83313
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Hyperactivity, Self-mutilation, Low frustration tolerance, Aggressive behavior, Skin-picking ORPHA:163681
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory insufficiency, Respiratory failure requiring assisted ventilati... ORPHA:308552
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure OMIM:609015
Poliomyelitis
Dysphagia, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:2912
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Respiratory failure ORPHA:445038
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity, Emotional lability OMIM:620047
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Hyperactivity, Retinal degeneration, Depression, Pigmentary retinopathy, Optic ... OMIM:234200
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure, Umbilical hernia, Large placenta ORPHA:254528
Combined Oxidative Phosphorylation Deficiency 3
Death in childhood, Respiratory insufficiency, Respiratory failure OMIM:610505
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure ORPHA:746
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Sleep apnea, Pneumonia OMIM:617809
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Pneumothorax, Respiratory failure, Neonatal death OMIM:266910
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Respiratory failure ORPHA:3015
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Sleep apnea, Respiratory insufficiency, Orthopnea, Dysphagia, Exertional dy... ORPHA:365
Congenital Fiber-Type Disproportion Myopathy
Weakness of muscles of respiration, Aspiration pneumonia, Hypercapnia, Dysphagia, Hypoxemia, Inte... ORPHA:2020
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Respiratory failure OMIM:618329
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Riddle Syndrome
Recurrent sinusitis, Chronic sinusitis, Recurrent pneumonia, Restrictive ventilatory defect, Pneu... ORPHA:420741
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Cardiorespiratory arrest, Respiratory failure ORPHA:3342
Holoprosencephaly 1
Facial cleft OMIM:236100
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Hydrocephalus, Dyspnea, Respiratory failure, Agenesis of corpus callosum ORPHA:2556
Histidinemia
Hyperactivity ORPHA:2157
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Death in childhood, Respiratory insufficiency, Respiratory failure, Tachypnea OMIM:618278
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Spinal dysraphism, Lissencephaly, Restrictive ventilatory defect, Pulmonary arterial... ORPHA:96334
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Facial cleft ORPHA:93271
Costello Syndrome
Hydrocephalus, Tracheomalacia, Respiratory insufficiency, Pneumothorax, Respiratory failure, Obst... OMIM:218040
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:252010
Nocardiosis
Respiratory distress, Nonproductive cough, Pneumothorax, Productive cough, Pneumonia, Emphysema, ... ORPHA:31204
Malignant Atrophic Papulosis
Respiratory failure, Pleural effusion ORPHA:679
Bickerstaff Brainstem Encephalitis
Hypercapnia, Respiratory failure requiring assisted ventilation, Pneumonia, Dyspnea, Respiratory ... ORPHA:79138
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Cough, Respiratory failure, Pneumonia, Pleural effusion, Dyspnea, Epistaxis ORPHA:340
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Argininemia
Spastic gait, Hyperactivity, Irritability OMIM:207800
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure, Noncommunicating hydrocephalus ORPHA:805
Mucopolysaccharidosis Type 2
Abnormality of retinal pigmentation, Hyperactivity, Abnormal foveal morphology, Retinal degenerat... ORPHA:580
Listeriosis
Respiratory distress, Miscarriage, Respiratory failure, Pneumonia ORPHA:533
Bloom Syndrome
Rhinitis, Respiratory failure, Chronic pulmonary obstruction, Pneumonia ORPHA:125
Nijmegen Breakage Syndrome
Abnormality of neuronal migration, Respiratory failure, Recurrent pneumonia ORPHA:647
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Respiratory failure, Death in infancy OMIM:300868
Lethal Acantholytic Erosive Disorder
Respiratory failure ORPHA:158687
Steinert Myotonic Dystrophy
Oral-pharyngeal dysphagia, Respiratory insufficiency, Respiratory failure requiring assisted vent... ORPHA:273
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Polymicrogyria, Lateral ventricle dilatation, Emphysema, Dysphagia, S... ORPHA:500150
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Cough, Tachypnea, Emphysema, Respiratory failure OMIM:613658
Abetalipoproteinemia
Respiratory failure ORPHA:14
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Stridor, Pneumonia, Pneumothorax, Dyspnea, Respiratory failure ORPHA:79404
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Recurrent pneumonia, Hypoventilation, Spontaneous pneumothorax, Respiratory failure ORPHA:731
Niemann-Pick Disease Type C
Aspiration pneumonia, Respiratory insufficiency, Dysphagia, Respiratory failure ORPHA:646
Myhre Syndrome
Respiratory insufficiency, Respiratory failure OMIM:139210
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Respiratory failure ORPHA:2636
Ulbright-Hodes Syndrome
Respiratory distress, Pneumothorax, Respiratory failure ORPHA:3404
Intellectual Developmental Disorder, Autosomal Dominant 42
Inability to walk, Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior OMIM:616973
Craniofacial Microsomia
Transverse facial cleft OMIM:164210
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Polymicrogyria ORPHA:488613
Leukemia, Acute Lymphoblastic
OMIM:613065
Myelodysplastic Syndrome
OMIM:614286

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 Gnb1

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 Gnb1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Knockout mouse models reveal the contributions of G protein subunits to complement C5a receptor-mediated chemotaxis. The Journal of biological chemistry (April 2020) Gnb1em1(IMPC)Bay 32332099

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MGI Allele Allele Type Produced
Gnb1em1(IMPC)Bay Exon Deletion Mice
Gnb1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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