Gene Summary

heat shock protein nuclear import factor
1110002N09Rik,  0610007P06Rik,  l7Rn6,  Hikeshi,  l(7)6Rn

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
abnormal liver morphology Hikeshiem1(IMPC)Rbrc HET Late adult 0.00
preweaning lethality, complete penetrance Hikeshiem1(IMPC)Rbrc HOM   Early adult 0.00

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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.


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection


6 Images

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

Disease Similarity of
Matching phenotypes Source
Leukodystrophy, Hypomyelinating, 13

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

Disease Similarity of
Matching phenotypes Source
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypoxemia, Hypersensi... ORPHA:79127
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Hyperoxemia, Abnormal lung morphology, Pulmonary sequestration ORPHA:70589
Mhc Class I Deficiency 1
Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Bronchiectasis OMIM:604571
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema OMIM:618307
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Sarcoidosis, Susceptibility To, 2
Emphysema, Hypoxemia, Pleural effusion, Pneumothorax, Abnormal pulmonary interstitial morphology,... OMIM:612387
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Allergic Bronchopulmonary Aspergillosis
Emphysema, Bronchiectasis ORPHA:1164
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Orthodeoxia, Honeycomb lung, A... ORPHA:2032
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Recurrent upper respiratory tract infections, Desquamative interstitial pneumonitis, Ty... OMIM:263000
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Alpha-1-Antitrypsin Deficiency
Emphysema, Jaundice, Bronchiectasis, Bronchitis ORPHA:60
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Recurrent respiratory... OMIM:610910
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Hypoxemia ORPHA:70587
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Oxygen d... ORPHA:2302
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis, Premature graying of hair OMIM:620365
Emphysema ORPHA:436
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia, Neonatal death OMIM:615228
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections OMIM:242700
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypoxemia... ORPHA:79126
Netherton Syndrome
Emphysema, Recurrent respiratory infections, Urticaria ORPHA:634
Perching Syndrome
Cyanosis OMIM:617055
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Hypocomplementemic Urticarial Vasculitis
Emphysema, Pleural effusion, Angioedema ORPHA:36412
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death OMIM:601612
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Cutis Laxa, Autosomal Dominant 1
Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial appearance, Emphysema,... OMIM:123700
Immunodeficiency 89 And Autoimmunity
Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening OMIM:619632
Breath-Holding Spells
Cyanosis OMIM:607578
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Common Variable Immunodeficiency
Pneumonia, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Purpura, Bronchiect... ORPHA:1572
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Peripheral pulmonary artery stenosis, Poor wound healing, Recurrent respiratory infect... OMIM:219100
Congenital Pulmonary Lymphangiectasia
Pleural effusion, Cyanosis ORPHA:2414
High Altitude Pulmonary Edema
Pulmonary edema, Hypoxemia, Cyanosis ORPHA:330012
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Cyanos... ORPHA:199241
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia, Neonatal death OMIM:245650
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Progeroid facial appearance, Atelectas... OMIM:613177
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Cyanosis, Pneumothorax, Recurrent respiratory infections, H... ORPHA:2257
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Cryptogenic Organizing Pneumonia
Hypoxemia, Pneumothorax, Cyanosis ORPHA:1302
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Cyanosis ORPHA:2004
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Intraalveolar phospholipid accumulation, Cyanosis ORPHA:747
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology, Recurrent upper respiratory tract infections, Bron... ORPHA:922
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax, Bruising susceptibility OMIM:614816
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Premature skin wrinkling, Abnormality of the pulmonary artery, Premature graying of hair ORPHA:363618
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax, Recurrent resp... ORPHA:538
Congenital Heart Block
Pleural effusion, Cyanosis ORPHA:60041
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Bruising susceptibility, Emphysema, Nodula... OMIM:130050
Sarcoidosis, Susceptibility To, 1
Emphysema, Hypoxemia, Pleural effusion, Abnormal pulmonary interstitial morphology, Pulmonary fib... OMIM:181000
Waardenburg Syndrome Type 3
Acrocyanosis, Atelectasis ORPHA:896
Lymphatic Malformation 12
Death in adolescence, Pleural thickening, Recurrent upper and lower respiratory tract infections,... OMIM:620014
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia, Neonatal death OMIM:253310
Choanal Atresia
Recurrent respiratory infections, Cyanosis ORPHA:137914
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia OMIM:619708
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Autosomal Recessive Cutis Laxa Type 1
Emphysema, Peripheral pulmonary artery stenosis, Pneumothorax, Recurrent pneumonia ORPHA:90349
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Meier-Gorlin Syndrome 6
Emphysema, Recurrent respiratory infections OMIM:616835
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Neonatal Marfan Syndrome
Emphysema, Hypoxemia ORPHA:284979
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Oxygen desaturati... ORPHA:60025
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Death in childhood, Neonatal d... OMIM:614437
Meier-Gorlin Syndrome 1
Emphysema, Death in infancy OMIM:224690
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Fabry Disease
Emphysema, Angiokeratoma, Conjunctival telangiectasia, Telangiectasia of the skin, Mucosal telang... ORPHA:324
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Hypoxemia, Pleural empyema ORPHA:2038
Ellis Van Creveld Syndrome
Emphysema, Aplasia/Hypoplasia of the lungs ORPHA:289
Keutel Syndrome
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti... OMIM:245150
Pneumonia, Emphysema, Pleural effusion, Pneumothorax, Pleuritis ORPHA:31204
Autosomal Dominant Cutis Laxa
Peripheral pulmonary artery stenosis, Bronchiolitis, Premature skin wrinkling, Emphysema, Prematu... ORPHA:90348
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Acrocyanosis ORPHA:1867
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Generalized abnormality of skin, Pleural effusion, Hypersensitivity pneumonitis, Hyp... ORPHA:2902
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Marfan Syndrome
Emphysema, Pneumothorax, Pulmonary artery dilatation, Reduced subcutaneous adipose tissue OMIM:154700
Tetrasomy 5P
Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia ORPHA:3309
Meconium Aspiration Syndrome
Pneumothorax, Hypoxemia, Atelectasis, Aspiration pneumonia ORPHA:70588
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia, Anomalous pulmonary venous return ORPHA:860
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Atelectasis, Neonatal death OMIM:300219
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Abnormal pulmonary interstitial morphology OMIM:613658
Chylothorax, Emphysema, Abnormal pleura morphology, Pleural effusion, Pneumothorax, Abnormal nasa... ORPHA:797
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Oxygen desaturation on exertion, Hypoxemia, Recurr... OMIM:610978
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility ORPHA:335
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections ORPHA:3348
Double Outlet Right Ventricle
Pulmonary artery atresia, Cyanosis ORPHA:3426
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Recurrent intrapulmonary hemorrhage, Abnormal pleura morphology, Cutis marmorata... ORPHA:183
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Dravet Syndrome
Cyanotic episode ORPHA:33069
Marfan Syndrome
Emphysema, Spontaneous pneumothorax, Pulmonary artery dilatation ORPHA:558
Meckel Syndrome 14
Pneumothorax, Cyanosis, Pulmonary hypoplasia OMIM:619879
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Congenital Tricuspid Valve Dysplasia
Cyanosis, Hypoxemia, Anomalous pulmonary venous return ORPHA:555874
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050
Structural Heart Defects And Renal Anomalies Syndrome
Partial anomalous pulmonary venous return, Cyanosis, Death in infancy OMIM:617478
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, C... OMIM:616749
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Central cyanosis OMIM:620067
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Cyanosis ORPHA:2326
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Cyanosis ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Cyanosis ORPHA:98914
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis ORPHA:444013
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis, Recurrent lower respiratory tract infections, Death in childhood, Death in infancy OMIM:618426
Ciliary Dyskinesia, Primary, 1
Pneumonia, Nasal polyposis, Atelectasis, Recurrent bronchitis, Bronchiectasis, Absent outer dynei... OMIM:244400
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Emphysema, Unilateral lung agenesis ORPHA:500150
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Absence Of The Pulmonary Artery
Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Recurrent respiratory infections, Bro... ORPHA:980
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Purpura, Urticaria ORPHA:343
Viss Syndrome
Pulmonary artery aneurysm, Bruising susceptibility, Emphysema, Pneumothorax, Prominent superficia... OMIM:619472
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Proteus Syndrome
Pulmonary cyst, Bronchogenic cyst, Vascular skin abnormality, Abnormal lung lobation, Abnormal su... ORPHA:744
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Aicardi-Goutieres Syndrome 1
Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Acrocyanosis OMIM:225750
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Cyanosis, Anomalous pulmonary venous return ORPHA:99104
Sepsis In Premature Infants
Cyanosis, Jaundice, Purpura, Petechiae ORPHA:90051
Familial Dysautonomia
Abnormal pleura morphology, Acrocyanosis, Recurrent respiratory infections ORPHA:1764
Congenital Tracheal Stenosis
Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Cyanosis,... ORPHA:141127
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Pulmonary artery dilatation, Cyanosis ORPHA:99106
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Pleural effusion, Cyanosis OMIM:261740
Ethylene Glycol Poisoning
Pulmonary edema, Cyanosis ORPHA:31826
Complete Atrioventricular Septal Defect
Recurrent pneumonia, Cyanosis ORPHA:1329
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Esophageal Atresia
Cyanosis, Recurrent respiratory infections, Bronchitis, Pulmonary hypoplasia ORPHA:1199
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis ORPHA:159
Truncus Arteriosus
Pulmonary artery hypoplasia, Abnormal lung lobation, Cyanosis, Anomalous origin of one pulmonary ... ORPHA:3384
Necrotizing Enterocolitis
Cyanosis ORPHA:391673
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Pulmonary hemorrhage, Nasal mucosa telangiectasia... OMIM:187300
Tarp Syndrome
Cyanosis, Pulmonary hypoplasia ORPHA:2886
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Acrocyanosis OMIM:223900
Double Outlet Left Ventricle
Pulmonary artery stenosis, Cyanosis ORPHA:3427
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Pulmonary arteriovenous malformatio... OMIM:610655
Poems Syndrome
Acrocyanosis, Pleural effusion, Plethora ORPHA:2905
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Cya... OMIM:233450
Criss-Cross Heart
Cyanosis ORPHA:1461
Histiocytoid Cardiomyopathy
Pulmonary edema, Cyanosis ORPHA:137675
Unilateral Polymicrogyria
Cyanosis, Pulmonary arteriovenous malformation ORPHA:268943
Acrocyanosis, Vascular skin abnormality ORPHA:349
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... OMIM:600376
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Cyanosis ORPHA:99103
Sotos Syndrome
Prolonged neonatal jaundice, Pulmonary bleb, Small cell lung carcinoma, Flushing ORPHA:821
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cyanosis, Death in infancy OMIM:252010
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi... OMIM:615067
Multiple Mitochondrial Dysfunctions Syndrome 7
Cyanosis OMIM:620423
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lung, Total anomalous pulmonary venous return, Cyanosis OMIM:306955
Cardiogenic Shock
Cyanosis, Hypoxemia ORPHA:97292
Erythema, Shawl sign, V-sign, Acrocyanosis, Lung adenocarcinoma, Facial erythema, Telangiectasia ... ORPHA:221
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Cyanosis OMIM:212093
Postinfectious Vasculitis
Pneumonia, Palpable purpura, Cutis marmorata, Vasculitis in the skin, Recurrent streptococcus pne... ORPHA:48435
Myasthenia Gravis
Acrocyanosis ORPHA:589
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Cyanosis ORPHA:293987
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis OMIM:617239
Aortic Arch Interruption
Aortopulmonary window, Cyanosis ORPHA:2299
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Cyanosis, Pulmonary artery stenosis, Infracard... ORPHA:99125
Pitt-Hopkins Syndrome
Acrocyanosis ORPHA:2896
Eisenmenger Syndrome
Aortopulmonary window, Hypoxemia, Cyanosis ORPHA:97214
Hutchinson-Gilford Progeria Syndrome
Premature skin wrinkling, Prominent superficial blood vessels, Cyanosis, Generalized abnormality ... ORPHA:740
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Cyanosis ORPHA:216694
Primary Hyperoxaluria
Cutis marmorata, Acrocyanosis ORPHA:416
Aicardi-Goutières Syndrome
Prolonged neonatal jaundice, Cutis marmorata, Acrocyanosis ORPHA:51
Classical Ehlers-Danlos Syndrome
Poor wound healing, Bruising susceptibility, Ecchymosis, Fragile skin, Prematurely aged appearanc... ORPHA:287
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis OMIM:303600
Generalized Arterial Calcification Of Infancy
Cyanosis ORPHA:51608
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Bruising susceptibility ORPHA:285
Leukodystrophy, Hypomyelinating, 13


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 Hikeshi

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 Hikeshi.

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

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MGI Allele Allele Type Produced
Hikeshitm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hikeshiem1(IMPC)Rbrc Exon Deletion Mice

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