Gene: Gorab MGI:2138271

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

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 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
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
Respiratory Distress Syndrome In Premature Infants
OMIM:267450
Emphysema, Congenital Lobar
OMIM:130710
Hypomyelination Neuropathy-Arthrogryposis Syndrome
ORPHA:2680
Bronchopulmonary Dysplasia
ORPHA:70589
Developmental And Epileptic Encephalopathy 30
OMIM:616341
Epilepsy, Pyridoxine-Dependent
OMIM:266100
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
OMIM:614399
Myasthenic Syndrome, Congenital, 6, Presynaptic
OMIM:254210
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
ORPHA:171703
Perching Syndrome
OMIM:617055
Familial Nasal Acilia
ORPHA:922
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
OMIM:300580
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
OMIM:605809
Pleural Mesothelioma
ORPHA:50251
Lethal Osteosclerotic Bone Dysplasia
ORPHA:1832
Recurrent Respiratory Papillomatosis
ORPHA:60032
Laryngotracheal Angioma
ORPHA:137935
Lethal Recessive Chondrodysplasia
ORPHA:1423
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
OMIM:604377
Severe Acute Respiratory Syndrome
ORPHA:140896
Leukodystrophy, Hypomyelinating, 17
OMIM:618006
Congenital Pulmonary Lymphangiectasia
ORPHA:2414
Pulmonary Non-Tuberculous Mycobacterial Infection
ORPHA:411703
Severe X-Linked Mitochondrial Encephalomyopathy
ORPHA:238329
Succinic Acidemia
OMIM:600335
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
ORPHA:261304
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
OMIM:619099
Lymphatic Malformation 7
OMIM:617300
Gaucher Disease Type 2
ORPHA:77260
Bardet-Biedl Syndrome 16
OMIM:615993
Combined Oxidative Phosphorylation Deficiency 19
OMIM:615595
Hereditary Pulmonary Alveolar Proteinosis
ORPHA:264675
Cryptogenic Organizing Pneumonia
ORPHA:1302
Mitochondrial Dna Depletion Syndrome, Myopathic Form
ORPHA:254875
Laryngomalacia
OMIM:150280
Interstitial Pneumonitis, Desquamative, Familial
OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 3
OMIM:610921
Idiopathic Neonatal Atrial Flutter
ORPHA:45452
Acute Lung Injury
ORPHA:178320
Staphylococcal Necrotizing Pneumonia
ORPHA:36238
Congenital Lobar Emphysema
ORPHA:1928
Short Chain Acyl-Coa Dehydrogenase Deficiency
ORPHA:26792
Congenital Disorder Of Glycosylation, Type Iu
OMIM:615042
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
ORPHA:254864
Ciliary Dyskinesia, Primary, 2
OMIM:606763
Congenital Disorder Of Glycosylation, Type Iy
OMIM:300934
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
ORPHA:91130
Malaria
ORPHA:673
Surfactant Metabolism Dysfunction, Pulmonary, 2
OMIM:610913
Mitochondrial Pyruvate Carrier Deficiency
OMIM:614741
Coenzyme Q10 Deficiency, Primary, 8
OMIM:616733
Laryngeal Web, Familial
OMIM:150360
Neurogenic Arthrogryposis Multiplex Congenita
ORPHA:1143
Myopathy And Diabetes Mellitus
ORPHA:2596
Meconium Aspiration Syndrome
ORPHA:70588
Infant Acute Respiratory Distress Syndrome
ORPHA:70587
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
ORPHA:2759
Multiple Carboxylase Deficiency
ORPHA:148
Congenital Laryngeal Web
ORPHA:2374
Progressive Supranuclear Palsy-Parkinsonism Syndrome
ORPHA:240085
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
OMIM:245590
Methylmalonic Aciduria And Homocystinuria, Cblj Type
OMIM:614857
Thyroid Lymphoma
ORPHA:97285
Avian Influenza
ORPHA:454836
Myotonic Dystrophy 1
OMIM:160900
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
OMIM:610978
Hereditary Angioedema Type 1
ORPHA:100050
Anaplastic Thyroid Carcinoma
ORPHA:142
Hyperparathyroidism, Transient Neonatal
OMIM:618188
Mohr-Tranebjaerg Syndrome
OMIM:304700
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
ORPHA:86812
Progressive Supranuclear Palsy-Corticobasal Syndrome
ORPHA:240103
Nipah Virus Disease
ORPHA:99825
Chitayat Syndrome
OMIM:617180
N-Acetylglutamate Synthase Deficiency
OMIM:237310
Congenital Disorder Of Glycosylation, Type Ix
OMIM:615597
Tularemia
ORPHA:3392
Odontochondrodysplasia
ORPHA:166272
Holocarboxylase Synthetase Deficiency
ORPHA:79242
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
ORPHA:79312
Spinal muscular atrophy, type I, with congenital bone fractures
OMIM:271225
Spinocerebellar Ataxia, X-Linked 3
OMIM:301790
Microlissencephaly-Micromelia Syndrome
ORPHA:50810
Classic Pantothenate Kinase-Associated Neurodegeneration
ORPHA:216866
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
ORPHA:544503
Brown-Vialetto-Van Laere Syndrome 1
OMIM:211530
Infantile-Onset X-Linked Spinal Muscular Atrophy
ORPHA:1145
Inhalational Anthrax
ORPHA:247257
Hypoglossia With Situs Inversus
OMIM:612776
Diaphanospondylodysostosis
OMIM:608022
Huntington Disease-Like 1
ORPHA:157941
Congenital Diaphragmatic Hernia
ORPHA:2140
Oculocerebrofacial Syndrome, Kaufman Type
ORPHA:2707
Congenital Disorder Of Glycosylation, Type Ie
OMIM:608799
Congenital Enterovirus Infection
ORPHA:292
Diaphanospondylodysostosis
ORPHA:66637
Cryptosporidiosis
ORPHA:1549
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
OMIM:618426
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
ORPHA:314655
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
ORPHA:329178
Slc35A1-Cdg
ORPHA:238459
Mucopolysaccharidosis-Plus Syndrome
OMIM:617303
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
ORPHA:990
Surfactant Metabolism Dysfunction, Pulmonary, 1
OMIM:265120
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
ORPHA:289916
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
ORPHA:367
Acquired Methemoglobinemia
ORPHA:464453
Odontochondrodysplasia 1
OMIM:184260
Stt3B-Cdg
ORPHA:370924
Rodrigues Blindness
OMIM:268320
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
OMIM:617102
Lissencephaly Syndrome, Norman-Roberts Type
ORPHA:89844
Fructose-1,6-Bisphosphatase Deficiency
ORPHA:348
Choanal Atresia
ORPHA:137914
Agnathia-Otocephaly Complex
OMIM:202650
Synaptic Congenital Myasthenic Syndromes
ORPHA:98915
Congenital Myasthenic Syndrome
ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
ORPHA:98914
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
OMIM:617895
Mercury Poisoning
ORPHA:330021
Leigh Syndrome With Cardiomyopathy
ORPHA:70474
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
OMIM:608836
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
ORPHA:927
Episodic Ataxia Type 1
ORPHA:37612
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
OMIM:606164
Gaucher Disease, Perinatal Lethal
OMIM:608013
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
OMIM:305100
Radio-Renal Syndrome
ORPHA:3015
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
ORPHA:226313
Multiple Acyl-Coa Dehydrogenase Deficiency
OMIM:231680
Tetanus
ORPHA:3299
Dystonia 1, Torsion, Autosomal Dominant
OMIM:128100
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
ORPHA:2519
Moebius Syndrome
OMIM:157900
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
OMIM:619383
Farber Disease
ORPHA:333
Brain-Lung-Thyroid Syndrome
ORPHA:209905
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
ORPHA:26793
Mitochondrial Complex I Deficiency, Nuclear Type 37
OMIM:619272
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
OMIM:220110
Renal Dysplasia-Limb Defects Syndrome
OMIM:266910
Developmental And Epileptic Encephalopathy 68
OMIM:618201
Campomelic Dysplasia
OMIM:114290
Kniest Dysplasia
OMIM:156550
Methylmalonic Aciduria, Cblb Type
OMIM:251110
Colchicine Poisoning
ORPHA:31824
Methylmalonic Aciduria, Cbla Type
OMIM:251100
Biotinidase Deficiency
ORPHA:79241
Pachyonychia Congenita
ORPHA:2309
Sporadic Infantile Bilateral Striatal Necrosis
ORPHA:225147
Primary Dystonia, Dyt4 Type
ORPHA:98805
Bacterial Toxic-Shock Syndrome
ORPHA:36234
Vici Syndrome
OMIM:242840
Japanese Encephalitis
ORPHA:79139
Oromandibular Dystonia
ORPHA:93958
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
OMIM:612852
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
OMIM:217980
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
ORPHA:505248
Cryptococcosis
ORPHA:1546
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
OMIM:300968
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
ORPHA:308552
Arterial Tortuosity Syndrome
ORPHA:3342
Ramos-Arroyo Syndrome
ORPHA:1051
Sepsis In Premature Infants
ORPHA:90051
Alternating Hemiplegia Of Childhood
ORPHA:2131
Congenital Tracheal Stenosis
ORPHA:141127
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
ORPHA:37042
Infantile Krabbe Disease
ORPHA:206436
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
ORPHA:536467
Auriculocondylar Syndrome
ORPHA:137888
Cocaine Intoxication
ORPHA:90068
Tetrasomy 5P
ORPHA:3309
Spondyloepiphyseal Dysplasia Congenita
OMIM:183900
Nocardiosis
ORPHA:31204
Severe Generalized Junctional Epidermolysis Bullosa
ORPHA:79404
Idiopathic Hypereosinophilic Syndrome
ORPHA:3260
Esophageal Atresia
ORPHA:1199
Glycogen Storage Disease Due To Acid Maltase Deficiency
ORPHA:365
Complete Atrioventricular Septal Defect
ORPHA:1329
Meier-Gorlin Syndrome 1
OMIM:224690
Mandibulofacial Dysostosis, Guion-Almeida Type
OMIM:610536
Q Fever
ORPHA:781
Methylmalonic Acidemia With Homocystinuria, Type Cblc
ORPHA:79282
Ethylene Glycol Poisoning
ORPHA:31826
Neuromuscular Oculoauditory Syndrome
OMIM:618733
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
ORPHA:1555
Pfeiffer Syndrome Type 2
ORPHA:93259
Prader-Willi Syndrome Due To Translocation
ORPHA:177907
Beare-Stevenson Cutis Gyrata Syndrome
OMIM:123790
Sandifer Syndrome
ORPHA:71272
Adnp Syndrome
ORPHA:404448
Pfeiffer Syndrome Type 3
ORPHA:93260
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
ORPHA:438216
Diamond-Blackfan Anemia 10
OMIM:613309
Shwachman-Diamond Syndrome 1
OMIM:260400
Coccidioidomycosis
ORPHA:228123
Unilateral Polymicrogyria
ORPHA:268943
Ear-Patella-Short Stature Syndrome
ORPHA:2554
Arboleda-Tham Syndrome
OMIM:616268
Thrombotic Thrombocytopenic Purpura, Hereditary
OMIM:274150
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
OMIM:614748
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
ORPHA:17
Congenital Alveolar Capillary Dysplasia
ORPHA:210122
Toxic Epidermal Necrolysis
ORPHA:537
Mitochondrial Dna-Associated Leigh Syndrome
ORPHA:255210
Congenital Disorder Of Deglycosylation
OMIM:615273
Eisenmenger Syndrome
ORPHA:97214
Short-Rib Thoracic Dysplasia 15 With Polydactyly
OMIM:617088
Stüve-Wiedemann Syndrome
ORPHA:3206
Kasabach-Merritt Syndrome
ORPHA:2330
Microphthalmia With Linear Skin Defects Syndrome
ORPHA:2556
Osteoglophonic Dysplasia
OMIM:166250
Isolated Arrhinia
ORPHA:1134
Cleidocranial Dysplasia
OMIM:119600
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
ORPHA:95455
Listeriosis
ORPHA:533
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
ORPHA:466943
Schinzel-Giedion Syndrome
ORPHA:798
Rubinstein-Taybi Syndrome 1
OMIM:180849
Gitelman Syndrome
ORPHA:358
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
ORPHA:83617
Doors Syndrome
ORPHA:79500
Scimitar Syndrome
ORPHA:185
Heterotaxy, Visceral, 1, X-Linked
OMIM:306955
Tuberous Sclerosis Complex
ORPHA:805
Generalized Arterial Calcification Of Infancy
ORPHA:51608
Ulbright-Hodes Syndrome
ORPHA:3404
Leptospirosis
ORPHA:509
Plague
ORPHA:707
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
ORPHA:480880
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
ORPHA:2255
Congenital Total Pulmonary Venous Return Anomaly
ORPHA:99125
8Q24.3 Microdeletion Syndrome
ORPHA:508488
Alström Syndrome
ORPHA:64
Pmm2-Cdg
ORPHA:79318
Geroderma Osteodysplastica
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.

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MGI Allele Allele Type Produced
Gorabtm209627(L1L2_Bact_P) Targeting vectors

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