banner
Genes Phenotypes Help, News, Blog

Gene: Gorab MGI:2138271

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
golgin, RAB6-interacting
Synonyms:
Scyl1bp1,  NTKL-BP1

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 Gorab 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 Gorab by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Geroderma Osteodysplastica
Thin skin ORPHA:2078
Geroderma Osteodysplasticum
OMIM:231070

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Tachypnea, Pulmonary edema OMIM:267450
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... OMIM:619751
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... ORPHA:100057
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion ORPHA:50251
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Polyhydramnios OMIM:300580
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Hydrops fetalis, Chylopericardium, Cough, Pu... ORPHA:2414
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Dystonia 31
Abnormal posturing OMIM:619565
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Abnormal respiratory motile cili... ORPHA:922
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Lethal Recessive Chondrodysplasia
Respiratory distress, Polyhydramnios, Edema ORPHA:1423
Perching Syndrome
Respiratory distress OMIM:617055
Succinic Acidemia
Respiratory distress OMIM:600335
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... ORPHA:1302
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Thin skin, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Oligohydramnios ORPHA:261304
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Cough ORPHA:77260
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... OMIM:617300
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Acute Lung Injury
Respiratory distress, Pneumonia, Edema, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Hydrops fetalis ORPHA:45452
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Polyhydramnios ORPHA:596
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress OMIM:615042
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Malaria
Respiratory distress ORPHA:673
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness, Oligohydramnios ORPHA:1143
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Unilateral cryptorchidism, Polyhydramnios, Bilateral cryp... OMIM:300219
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cil... OMIM:606763
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Lymphatic Malformation 12
Neonatal respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascit... OMIM:620014
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:613561
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Cryptorchidism, Death in childhood OMIM:615597
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Myotonic Dystrophy 1
Respiratory distress, Polyhydramnios, Testicular atrophy, Frontal balding OMIM:160900
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Oligohydramnios OMIM:616733
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Abnormal posturing, Tachypnea, Pulmonary arterial hypertension OMIM:614857
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Polyhydramnios ORPHA:2759
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure, Pulmonary edema ORPHA:70587
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough ORPHA:142
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Mogs-Cdg
Respiratory distress, Hypoventilation, Alopecia, Pulmonary edema, Apnea, Edema, Polyhydramnios, H... ORPHA:79330
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Pharyngeal edema, Intestinal edema, Edema of the dorsum of ha... ORPHA:100050
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Generalized edema, Hypertrichosis OMIM:271225
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration OMIM:620011
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in... OMIM:211530
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Aspiration pneumonia, Cough ORPHA:216866
Craniofaciofrontodigital Syndrome
Respiratory distress, Thick hair, Edema, Polyhydramnios, Pericardial effusion, Dyspnea, Low anter... ORPHA:363705
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Dehydration ORPHA:79312
Chitayat Syndrome
Respiratory distress, Polyhydramnios, Tracheomalacia OMIM:617180
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Edema of the dorsum of feet, Edema of the dorsum of hands ORPHA:544503
Nasolacrimal Duct Cyst
Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy... ORPHA:141083
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration OMIM:604377
Holocarboxylase Synthetase Deficiency
Respiratory distress, Alopecia, Tachypnea ORPHA:79242
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Cryptorchidism, Respiratory insufficiency ORPHA:1145
Inhalational Anthrax
Respiratory distress, Dyspnea, Abnormal sweat gland morphology ORPHA:247257
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Palpebral edema, Polyhydramnios, Generalized hypertrichosis ORPHA:50810
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Huntington Disease-Like 1
Abnormal posturing ORPHA:157941
Stt3B-Cdg
Respiratory distress, Cryptorchidism ORPHA:370924
Carnitine Deficiency, Systemic Primary
Respiratory distress, Dehydration OMIM:212140
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia ORPHA:238459
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Respiratory insufficiency, Ascites ORPHA:367
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia ORPHA:464453
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia, Sparse l... ORPHA:314655
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress OMIM:608799
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Diaphanospondylodysostosis
Respiratory distress, Increased nuchal translucency, Respiratory insufficiency, Webbed neck, Trac... OMIM:608022
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Absent eyebrow, Dyspnea, Respiratory failure, Thin eyebrow ORPHA:2707
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Low anterior hairline, Polyhydramnios ORPHA:329178
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Synophrys, Recurrent pneumonia, Low anterior hairline, Low posterior hairli... OMIM:617303
Congenital Enterovirus Infection
Respiratory distress, Fetal ascites, Polyhydramnios, Pericardial effusion, Hydrops fetalis, Pleur... ORPHA:292
Agnathia-Otocephaly Complex
Respiratory distress, Polyhydramnios, Tracheomalacia OMIM:202650
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Neonatal death, Ascites OMIM:608013
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Polyhydramnios, Aplasia/Hypoplasia of the eyebrow ORPHA:990
Choanal Atresia
Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal... ORPHA:137914
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Thick eyebrow, Facial hirsutism OMIM:619383
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira... OMIM:615512
Rodrigues Blindness
Sparse hair, Nasal flaring, Fine hair OMIM:268320
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... OMIM:616482
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Polyhydramnios OMIM:151210
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor, Mitochondrial swelling OMIM:615595
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Sparse eyebrow, Low posterior hairline OMIM:606164
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Edema, Polyhydramnios, Cryptorchidism, Recurrent pneumonia OMIM:607143
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Moebius Syndrome
Respiratory distress, Decreased testicular size OMIM:157900
Congenital Tracheomalacia
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... ORPHA:95430
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Pericardial effusion, Dyspnea, Ascites, Pulmonary edema OMIM:115197
Isolated Atp Synthase Deficiency
Respiratory distress ORPHA:254913
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Cryptorchidism, Pulmonary arterial hypertension, Supernumerary nipple ORPHA:2519
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Absent eyela... OMIM:305100
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Dehydration OMIM:251000
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pneumonia, Episodic tachypnea, Pericardial effusion, Tachypnea ORPHA:26793
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress ORPHA:226313
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Facial edema, Nonproductive cough, Periorbital edema, Rhinitis, C... ORPHA:319213
Congenital Myasthenic Syndrome
Sudden episodic apnea, Polyhydramnios, Intermittent episodes of respiratory insufficiency due to ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Sudden episodic apnea, Polyhydramnios, Intermittent episodes of respiratory insufficiency due to ... ORPHA:98914
Pachyonychia Congenita
Respiratory distress, Alopecia, Nail dystrophy ORPHA:2309
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension OMIM:619272
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Neonatal death OMIM:231680
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Recurrent pneumonia, Polyhydramnios, Dehydration OMIM:616271
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Titubation ORPHA:225147
Farber Disease
Respiratory distress, Hydrops fetalis, Respiratory insufficiency, Joint swelling, Ascites ORPHA:333
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Pericardial effusion, Anasarca, Peripheral edema, Pleural effusion, ... OMIM:261740
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Sparse eyelashes, Medial flaring of the eyebrow, Low posterior hairline OMIM:612863
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... ORPHA:209905
Achondroplasia
Respiratory distress, Death in infancy, Upper airway obstruction, Polyhydramnios OMIM:100800
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Synophrys, Pleural effusion, Asc... OMIM:620369
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... OMIM:618426
Mgat2-Cdg
Respiratory distress, Hydrops fetalis, Long eyelashes, Hypoplastic nipples, Hirsutism ORPHA:79329
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing OMIM:128100
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Colchicine Poisoning
Respiratory distress, Alopecia, Cardiorespiratory arrest, Dehydration ORPHA:31824
Japanese Encephalitis
Respiratory distress, Pulmonary edema, Respiratory paralysis, Abnormal pattern of respiration, Ce... ORPHA:79139
Biotinidase Deficiency
Respiratory distress, Alopecia, Apnea, Hyperventilation ORPHA:79241
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Cryptorchidism, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Edema, Tachypnea ORPHA:36234
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Joint swelling OMIM:612852
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Dehydration OMIM:251110
Tetrasomy 5P
Respiratory distress, Pulmonary arterial hypertension ORPHA:3309
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Cardiorespiratory arrest, Respiratory failure, Thin skin ORPHA:3342
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood OMIM:613848
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Cryptorchidism, Long eyelashes, Thin skin, Emphysema, Bre... OMIM:224690
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Sepsis In Premature Infants
Abnormal mucociliary clearance, Edema, Dyspnea, Nasal flaring, Abnormal respiratory system physio... ORPHA:90051
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion, Cerebral edema ORPHA:1546
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Thick hair, Airway obstruction, Stridor, Long eyelashes, Pulmonary arterial... ORPHA:505248
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Alopecia, Psoriasiform dermatitis, Pneumonia, Interstitial pneumonitis, Nai... ORPHA:37042
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Dehydration, Thin eyebrow, Aspiration ORPHA:2131
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Respiratory insufficiency, Restrictive ventilatory... ORPHA:536467
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Unilateral breast hypoplasia, Hypertrichosis OMIM:300968
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, Ascites, Polyhydramnios OMIM:617156
Ramos-Arroyo Syndrome
Respiratory distress, Sparse scalp hair, High anterior hairline, Xerostomia ORPHA:1051
Sandifer Syndrome
Abnormal posturing ORPHA:71272
Congenital Tracheal Stenosis
Respiratory distress, Polyhydramnios, Fetal ascites, Neonatal asphyxia, Wheezing, Dyspnea, Upper ... ORPHA:141127
Cocaine Intoxication
Respiratory distress, Pulmonary edema, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation ORPHA:90068
Esophageal Atresia
Respiratory distress, Polyhydramnios, Episodic respiratory distress, Chronic pulmonary obstructio... ORPHA:1199
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Dehydration OMIM:251100
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Cryptorchidism ORPHA:1555
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Alopecia, Pneumonia, Edema, Dyspnea, Pneumothorax, Dehydration, Stridor, Re... ORPHA:79404
Q Fever
Respiratory distress, Pneumonia, Pericardial effusion, Cough, Pleural effusion ORPHA:781
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... ORPHA:1329
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Pulmonary embolism, Dyspnea, Asthma, Angioedema, Joint swelling, Cough, Ple... ORPHA:3260
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax OMIM:620306
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... ORPHA:31204
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Hypopigmentation of hair, Oligohydramnios ORPHA:177907
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Adnp Syndrome
Respiratory distress, Sparse scalp hair, Cryptorchidism, Aspiration, High anterior hairline, Hirs... ORPHA:404448
Vici Syndrome
Hypopigmentation of hair, Abnormal posturing, Albinism OMIM:242840
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion... ORPHA:340
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Hydrops fetalis, Dehydration, Pulmonary arterial hypert... ORPHA:79282
Ethylene Glycol Poisoning
Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Cerebral edema, Pulmon... ORPHA:31826
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Polyhydramnios OMIM:618188
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Unilateral Polymicrogyria
Abnormal posturing, Apnea, Epistaxis ORPHA:268943
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... ORPHA:365
Ear-Patella-Short Stature Syndrome
Respiratory distress, Cryptorchidism, Dyspnea, Respiratory failure, Breast aplasia ORPHA:2554
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress, Highly arched eyebrow, Bilateral cryptorchid... OMIM:616268
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Short nail, Polyhydramnios, Stridor, ... OMIM:114290
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Hypertrichosis ORPHA:2330
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Abnormal mitochondrial shape, Apnea ORPHA:17
Coccidioidomycosis
Respiratory distress, Pneumonia, Pleural empyema, Cough, Abnormal sperm morphology, Exudative ple... ORPHA:228123
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress OMIM:123790
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress OMIM:260400
Rubinstein-Taybi Syndrome 1
Respiratory distress, Broad eyebrow, Thick eyebrow, Highly arched eyebrow, Polyhydramnios, Bilate... OMIM:180849
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress OMIM:274150
Toxic Epidermal Necrolysis
Respiratory distress, Restrictive ventilatory defect, Cough ORPHA:537
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Ascites OMIM:256810
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Sparse scalp hair, Neonatal respiratory distress, Sparse eyelashes, Sparse ... OMIM:614748
Eisenmenger Syndrome
Respiratory distress, Generalized edema, Increased pulmonary vascular resistance, Wheezing, Pedal... ORPHA:97214
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension ORPHA:210122
Listeriosis
Respiratory distress, Respiratory failure, Miscarriage, Pneumonia ORPHA:533
Scimitar Syndrome
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough ORPHA:185
Aortic Arch Interruption
Respiratory distress, Tachypnea, Pedal edema, Exertional dyspnea ORPHA:2299
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation ORPHA:255210
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Abnormal eyelash morphology, Dyspnea, Respiratory failure, Abnormal testis ... ORPHA:2556
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea, Oligohydramnios ORPHA:3206
Osteoglophonic Dysplasia
Respiratory distress, Cryptorchidism OMIM:166250
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Trichiasis, ... ORPHA:95455
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring, Synophrys ORPHA:466943
Congenital Disorder Of Deglycosylation 1
Respiratory distress OMIM:615273
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Generalized hypertrichosis ORPHA:798
Isolated Arrhinia
Respiratory distress ORPHA:1134
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Cryptorchidism, Coarse hair ORPHA:83617
8Q24.3 Microdeletion Syndrome
Respiratory distress, Highly arched eyebrow, Long eyelashes, Thick eyebrow, Oligohydramnios ORPHA:508488
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Polyhydramnios OMIM:306955
Gitelman Syndrome
Respiratory distress, Pericardial effusion ORPHA:358
Doors Syndrome
Respiratory distress, Polyhydramnios, Low anterior hairline, Aspiration pneumonia ORPHA:79500
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Polyhydramnios OMIM:617088
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure ORPHA:805
Ulbright-Hodes Syndrome
Respiratory distress, Cryptorchidism, Pneumothorax, Respiratory failure, Oligohydramnios ORPHA:3404
Generalized Arterial Calcification Of Infancy
Respiratory distress, Polyhydramnios, Edema, Pericardial effusion, Hydrops fetalis, Pulmonary art... ORPHA:51608
Leptospirosis
Respiratory distress, Pleural effusion, Cough ORPHA:509
Plague
Respiratory distress, Acute infectious pneumonia, Edema ORPHA:707
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Oligohydramnios ORPHA:2255
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Curly hair, Hypoplastic nipples, Hypertrichosis ORPHA:480880
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... ORPHA:99125
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Recurrent pneumonia ORPHA:99646
Alström Syndrome
Respiratory distress, Frontal balding, Testicular fibrosis, Chronic pulmonary obstruction, Hypopl... ORPHA:64
Pmm2-Cdg
Respiratory distress, Lymphedema, Pericardial effusion, Anasarca, Aspiration pneumonia, Decreased... ORPHA:79318
Geroderma Osteodysplastica
Thin skin ORPHA:2078
Geroderma Osteodysplasticum
OMIM:231070

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 Gorab

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 Gorab.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Gorabtm209627(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter