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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:
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
Abnormal hair morphology OMIM:231070

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy OMIM:254120
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea ORPHA:141152
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea, Edema OMIM:267450
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Facial edema, Angioedema, Respiratory distress, Tongue edema, Laryngeal edema, Palpebral edema, P... ORPHA:100057
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth OMIM:619751
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Dystonia 31
Abnormal posturing OMIM:619565
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Polyhydramnios OMIM:300580
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Perching Syndrome
Respiratory distress OMIM:617055
Lethal Recessive Chondrodysplasia
Respiratory distress, Polyhydramnios, Edema ORPHA:1423
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Succinic Acidemia
Respiratory distress OMIM:600335
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea ORPHA:1832
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Oligohydramnios, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Thin skin ORPHA:261304
Immunodeficiency 95
Respiratory distress OMIM:619773
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Respiratory distress, Ascites, Increased nuchal translucen... OMIM:617300
Pleural Mesothelioma
Respiratory distress, Dyspnea, Pleural effusion ORPHA:50251
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Ascites, Pleural effusion, Hydrops fetalis, Chylopericardium ORPHA:2414
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
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 Myopathy 10A, Severe Variant
Respiratory distress OMIM:614399
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Familial Nasal Acilia
Respiratory distress, Dyspnea, Abnormal respiratory motile cilium morphology ORPHA:922
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Malaria
Respiratory distress ORPHA:673
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions ORPHA:137935
Laryngomalacia
Respiratory distress OMIM:150280
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy OMIM:615042
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress OMIM:619466
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Pericardial effusion, Dyspnea, Pleural effusion ORPHA:411703
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Oligohydramnios ORPHA:1143
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Oligohydramnios OMIM:616733
X-Linked Centronuclear Myopathy
Respiratory distress, Polyhydramnios ORPHA:596
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Polyhydramnios, Death in infancy, Neonatal death OMIM:300219
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Bronchopulmonary Dysplasia
Respiratory distress, Dyspnea, Central apnea ORPHA:70589
Acute Lung Injury
Respiratory distress, Tachypnea, Dyspnea, Edema ORPHA:178320
Myotonic Dystrophy 1
Respiratory distress, Frontal balding, Polyhydramnios OMIM:160900
Chronic Pneumonitis Of Infancy
Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions ORPHA:91359
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress OMIM:613561
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Generalized edema, Hypertrichosis OMIM:271225
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress ORPHA:254875
Mogs-Cdg
Generalized edema, Alopecia, Fair hair, Respiratory distress, Long eyelashes, Apnea, Hypoventilat... ORPHA:79330
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration OMIM:620011
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress ORPHA:254864
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea OMIM:263000
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea ORPHA:86812
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea, Abnormal posturing OMIM:614857
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Polyhydramnios ORPHA:2759
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Dehydration ORPHA:79312
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea ORPHA:140896
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Edema of the dorsum of hands, Edema of the dorsum of feet ORPHA:544503
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea, Death in infancy OMIM:614299
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress OMIM:245590
Inhalational Anthrax
Respiratory distress, Abnormal sweat gland morphology, Dyspnea ORPHA:247257
Holocarboxylase Synthetase Deficiency
Respiratory distress, Alopecia, Tachypnea ORPHA:79242
Hereditary Angioedema Type 1
Facial edema, Respiratory distress, Tongue edema, Laryngeal edema, Edema of the dorsum of hands, ... ORPHA:100050
Craniofaciofrontodigital Syndrome
Lower eyelid edema, Hypertrichosis, Respiratory distress, Polyhydramnios, Low anterior hairline, ... ORPHA:363705
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pleural effusion, Tachypnea, Dyspnea, Pleural empyema ORPHA:36238
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exertional dyspnea, Dys... OMIM:610921
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Palpebral edema, Polyhydramnios, Generalized hypertrichosis ORPHA:50810
Huntington Disease-Like 1
Abnormal posturing ORPHA:157941
Recurrent Respiratory Papillomatosis
Respiratory distress, Tachypnea, Dyspnea ORPHA:60032
Chitayat Syndrome
Respiratory distress, Polyhydramnios OMIM:617180
Avian Influenza
Respiratory distress, Pleural effusion, Tachypnea, Dyspnea, Miscarriage ORPHA:454836
Tularemia
Respiratory distress, Pleural effusion ORPHA:3392
Carnitine Deficiency, Systemic Primary
Respiratory distress, Dehydration OMIM:212140
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Irregular respiration OMIM:604377
Nipah Virus Disease
Respiratory distress ORPHA:99825
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress OMIM:620375
Alfadhel Syndrome
Highly arched eyebrow, Nasal flaring OMIM:620655
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress OMIM:608799
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachypnea ORPHA:264675
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Absent inner and outer dynein arms OMIM:606763
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Polyhydramnios, Low anterior hairline ORPHA:329178
Thyroid Lymphoma
Respiratory distress, Dyspnea ORPHA:97285
Congenital Enterovirus Infection
Fetal ascites, Respiratory distress, Pleural effusion, Polyhydramnios, Hydrops fetalis, Pericardi... ORPHA:292
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Facial hirsutism, Thick eyebrow OMIM:619383
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Gaucher Disease, Perinatal Lethal
Respiratory distress, Ascites, Apnea, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios OMIM:608013
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Polyhydramnios, Aplasia/Hypoplasia of the eyebrow ORPHA:990
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Polyhydramnios, Ascites, Nonimmune hydrops fetalis ORPHA:367
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Tachypnea, Nasal flaring ORPHA:70587
Rodrigues Blindness
Sparse hair, Nasal flaring, Fine hair OMIM:268320
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Nocturnal hypoventilation, Dyspnea, Death in childhood OMIM:211530
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress OMIM:250940
Stt3B-Cdg
Respiratory distress ORPHA:370924
Mucopolysaccharidosis-Plus Syndrome
Coarse hair, Respiratory distress, Long eyelashes, Death in childhood, Low anterior hairline, Low... OMIM:617303
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan... ORPHA:348
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress ORPHA:1145
Congenital Diaphragmatic Hernia
Respiratory distress ORPHA:2140
Acquired Methemoglobinemia
Respiratory distress, Dyspnea ORPHA:464453
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea ORPHA:142
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Sparse eyebrow, Low posterior hairline OMIM:606164
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Polyhydramnios, Stillbirth OMIM:151210
Nasolacrimal Duct Cyst
Periorbital edema, Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress ORPHA:141083
Agnathia-Otocephaly Complex
Respiratory distress, Polyhydramnios OMIM:202650
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Sparse lateral eyebrow, Hypoventilation ORPHA:314655
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Thin eyebrow, Dyspnea, Absent eyebrow ORPHA:2707
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Ascites, Pulmonary edema, Dyspnea, Pericardial effusion OMIM:115197
Cryptogenic Organizing Pneumonia
Respiratory distress, Dyspnea ORPHA:1302
Diaphanospondylodysostosis
Respiratory distress, Webbed neck, Oligohydramnios, Increased nuchal translucency OMIM:608022
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing ORPHA:216866
Hypoglossia With Situs Inversus
Respiratory distress OMIM:612776
Isolated Atp Synthase Deficiency
Respiratory distress ORPHA:254913
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Moebius Syndrome
Respiratory distress OMIM:157900
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Neonatal death OMIM:616482
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress OMIM:620166
Slc35A1-Cdg
Respiratory distress ORPHA:238459
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Polyhydramnios, Edema OMIM:607143
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Sparse eyebrow, Absent nipple, Fine hair, Sparse body hair, Respiratory distress, Sparse eyelashe... OMIM:305100
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea OMIM:237310
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Mitochondrial swelling OMIM:615595
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Dehydration OMIM:251000
Glycogen Storage Disease Of Heart, Lethal Congenital
Anasarca, Respiratory distress, Ascites, Apnea, Pleural effusion, Peripheral edema, Pulmonary ede... OMIM:261740
Pachyonychia Congenita
Respiratory distress, Alopecia, Nail dystrophy ORPHA:2309
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress ORPHA:226313
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Neonatal death OMIM:231680
Sporadic Infantile Bilateral Striatal Necrosis
Titubation, Abnormal posturing ORPHA:225147
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Tachypnea, Pericardial effusion ORPHA:26793
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Chylothorax, Death in childhood, Death in infancy OMIM:620278
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Medial flaring of the eyebrow, Low posterior hairline, Sparse eyelashes OMIM:612863
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Exertional dyspnea, Death in childhood OMIM:220110
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress OMIM:617895
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Ascites, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Synop... OMIM:620369
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Polyhydramnios, Dehydration OMIM:616271
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in adolescence, Oligohydramnios, Death in infancy OMIM:615512
Meconium Aspiration Syndrome
Respiratory distress ORPHA:70588
Mercury Poisoning
Respiratory distress, Dyspnea ORPHA:330021
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Dyspnea, Pleural effusion ORPHA:3015
Mgat2-Cdg
Respiratory distress, Long eyelashes, Hirsutism, Hypoplastic nipples, Hydrops fetalis ORPHA:79329
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress OMIM:619272
Biotinidase Deficiency
Respiratory distress, Hyperventilation, Alopecia, Apnea ORPHA:79241
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Tachypnea OMIM:610978
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing OMIM:128100
Farber Disease
Respiratory distress, Hydrops fetalis, Joint swelling, Ascites ORPHA:333
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Supernumerary nipple ORPHA:2519
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Joint swelling OMIM:612852
Achondroplasia
Respiratory distress, Polyhydramnios, Death in infancy OMIM:100800
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Kniest Dysplasia
Respiratory distress OMIM:156550
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Exertional dyspnea, Hypoventilation ORPHA:98915
Japanese Encephalitis
Abnormal pattern of respiration, Respiratory distress, Pulmonary edema, Irregular respiration, Ce... ORPHA:79139
Lujo Hemorrhagic Fever
Facial edema, Generalized edema, Respiratory distress, Periorbital edema, Cerebral edema ORPHA:319213
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Congenital Myasthenic Syndrome
Polyhydramnios, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Polyhydramnios, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, ... ORPHA:98914
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Dehydration OMIM:251110
Sandifer Syndrome
Abnormal posturing ORPHA:71272
Colchicine Poisoning
Respiratory distress, Alopecia, Dehydration ORPHA:31824
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy OMIM:618426
Tetrasomy 5P
Respiratory distress ORPHA:3309
Bacterial Toxic-Shock Syndrome
Respiratory distress, Tachypnea, Edema ORPHA:36234
Ramos-Arroyo Syndrome
Respiratory distress, High anterior hairline, Xerostomia, Sparse scalp hair ORPHA:1051
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Unilateral breast hypoplasia, Hypertrichosis OMIM:300968
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Dehydration OMIM:251100
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, Polyhydramnios, Ascites OMIM:617156
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Alopecia, Psoriasiform dermatitis, Nail dystrophy ORPHA:37042
Infantile Krabbe Disease
Respiratory distress ORPHA:206436
Alternating Hemiplegia Of Childhood
Respiratory distress, Thin eyebrow, Apnea, Dehydration ORPHA:2131
Meier-Gorlin Syndrome 1
Respiratory distress, Breast hypoplasia, Long eyelashes, Death in infancy, Thin skin OMIM:224690
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Thin skin ORPHA:3342
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Tachypnea, Dyspnea OMIM:610913
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Osteogenesis Imperfecta, Type X
Respiratory distress, Death in childhood OMIM:613848
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Hypopigmentation of hair, Oligohydramnios ORPHA:177907
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Vici Syndrome
Albinism, Hypopigmentation of hair, Abnormal posturing OMIM:242840
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress ORPHA:1555
Choanal Atresia
Respiratory distress ORPHA:137914
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Polyhydramnios OMIM:618188
Cryptococcosis
Respiratory distress, Cerebral edema, Dyspnea, Pleural effusion ORPHA:1546
Brain-Lung-Thyroid Syndrome
Respiratory distress, Webbed neck ORPHA:209905
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress OMIM:217980
Sepsis In Premature Infants
Dyspnea, Nasal flaring, Edema ORPHA:90051
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Episodic respiratory distress, Pulmonary edema, Tachypnea, Cereb... ORPHA:31826
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Long eyelashes, Thick hair, Hypertrichosis ORPHA:505248
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Oligohydramnios, Thin skin ORPHA:536467
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress OMIM:620306
Q Fever
Respiratory distress, Pericardial effusion, Pleural effusion ORPHA:781
Pfeiffer Syndrome Type 2
Respiratory distress ORPHA:93259
Unilateral Polymicrogyria
Apnea, Abnormal posturing ORPHA:268943
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress OMIM:183900
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Abnormal mitochondrial shape, Apnea ORPHA:17
Pfeiffer Syndrome Type 3
Respiratory distress ORPHA:93260
Adnp Syndrome
Respiratory distress, High anterior hairline, Sparse scalp hair, Hirsutism ORPHA:404448
Neuromuscular Oculoauditory Syndrome
Respiratory distress OMIM:618733
Kasabach-Merritt Phenomenon
Respiratory distress, Hypopnea, Hypertrichosis ORPHA:2330
Idiopathic Hypereosinophilic Syndrome
Angioedema, Respiratory distress, Pleural effusion, Joint swelling, Dyspnea ORPHA:3260
Cocaine Intoxication
Respiratory distress, Hyperventilation, Tachypnea, Pulmonary edema ORPHA:90068
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Dehydration, Respiratory distress, Nail dystrophy, Dyspnea, Edema ORPHA:79404
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Hydrops fetalis, Dehydration ORPHA:79282
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress OMIM:123790
Neuroblastoma
Respiratory distress ORPHA:635
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress OMIM:274150
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Ascites OMIM:256810
Esophageal Atresia
Respiratory distress, Polyhydramnios, Episodic respiratory distress ORPHA:1199
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Rubinstein-Taybi Syndrome 1
Highly arched eyebrow, Facial hypertrichosis, Respiratory distress, Long eyelashes, Thick eyebrow... OMIM:180849
Arboleda-Tham Syndrome
Webbed neck, Highly arched eyebrow, Sparse medial eyebrow, Respiratory distress, Thin eyebrow, Up... OMIM:616268
Coccidioidomycosis
Respiratory distress, Abnormal sperm morphology, Exudative pleural effusion, Pleural empyema ORPHA:228123
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pulmonary edema, Dyspnea, Pleural effusion ORPHA:340
Congenital Tracheal Stenosis
Fetal ascites, Respiratory distress, Oligohydramnios, Polyhydramnios, Dyspnea ORPHA:141127
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Hyperventilation, Apnea, Episodic respiratory distress ORPHA:255210
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Breast aplasia ORPHA:2554
Shwachman-Diamond Syndrome 1
Respiratory distress OMIM:260400
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea, Pedal edema ORPHA:2299
Campomelic Dysplasia
Respiratory distress, Short nail, Apnea, Polyhydramnios OMIM:114290
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Exertional dyspnea, Orthopnea ORPHA:365
Congenital Alveolar Capillary Dysplasia
Respiratory distress ORPHA:210122
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress ORPHA:308552
Listeriosis
Respiratory distress, Miscarriage ORPHA:533
Congenital Disorder Of Deglycosylation 1
Respiratory distress OMIM:615273
Toxic Epidermal Necrolysis
Respiratory distress ORPHA:537
Complete Atrioventricular Septal Defect
Tachypnea, Intercostal retractions ORPHA:1329
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Abnormal eyelash morphology, Dyspnea ORPHA:2556
Nocardiosis
Respiratory distress, Dyspnea, Pleural effusion ORPHA:31204
Osteoglophonic Dysplasia
Respiratory distress OMIM:166250
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse eyebrow, Fine hair, Respiratory distress, Nail dystrophy, Sparse eyelashes, Sparse scalp hair OMIM:614748
Stüve-Wiedemann Syndrome
Respiratory distress, Oligohydramnios, Apnea ORPHA:3206
Eisenmenger Syndrome
Generalized edema, Respiratory distress, Ascites, Peripheral edema, Exertional dyspnea, Pedal edema ORPHA:97214
Isolated Arrhinia
Respiratory distress ORPHA:1134
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Nasal flaring, Synophrys ORPHA:466943
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Polyhydramnios OMIM:306955
Schinzel-Giedion Syndrome
Respiratory distress, Generalized hypertrichosis ORPHA:798
8Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Respiratory distress, Long eyelashes, Thick eyebrow, Oligohydramnios ORPHA:508488
Oculopharyngodistal Myopathy 1
Respiratory distress OMIM:164310
Congenital Tracheomalacia
Dyspnea, Apnea, Intercostal retractions ORPHA:95430
Gitelman Syndrome
Respiratory distress, Pericardial effusion ORPHA:358
Cleidocranial Dysplasia 1
Respiratory distress OMIM:119600
Scimitar Syndrome
Respiratory distress ORPHA:185
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Coarse hair ORPHA:83617
Doors Syndrome
Respiratory distress, Polyhydramnios, Low anterior hairline ORPHA:79500
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Polyhydramnios OMIM:617088
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Trichiasis, Xerostomia, Nail dystrophy ORPHA:95455
Tuberous Sclerosis Complex
Respiratory distress ORPHA:805
Generalized Arterial Calcification Of Infancy
Respiratory distress, Ascites, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Edema ORPHA:51608
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Hypoplastic nipples, Hypertrichosis, Curly hair ORPHA:480880
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Oligohydramnios ORPHA:2255
Plague
Respiratory distress, Edema ORPHA:707
Leptospirosis
Respiratory distress, Pleural effusion ORPHA:509
Ulbright-Hodes Syndrome
Respiratory distress, Oligohydramnios ORPHA:3404
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Exertional dyspnea, Paroxysmal dyspnea, Apneic episodes in infancy ORPHA:99125
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress ORPHA:99646
Pmm2-Cdg
Respiratory distress, Pericardial effusion, Anasarca, Lymphedema ORPHA:79318
Alström Syndrome
Frontal balding, Fine hair, Respiratory distress, Hirsutism, Oligozoospermia ORPHA:64
Geroderma Osteodysplastica
Thin skin ORPHA:2078
Geroderma Osteodysplasticum
Abnormal hair morphology 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

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