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Gene: Sec23a MGI:1349635

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Gene Summary

Name:
SEC23 homolog A, COPII coat complex component
Synonyms:
Msec23,  Sec23r

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased total body fat amount Sec23atm1a(KOMP)Wtsi HET Early adult 1.20×10-07

Download data as:  TSV  XLS

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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.

Histopathology

Images

10 Images

View images
Legacy Phenotype Associated Images
Sec23atm1a(KOMP)Wtsi
HET, Male, WTSI
Sec23atm1a(KOMP)Wtsi
HET, Male, WTSI
Sec23atm1a(KOMP)Wtsi
HET, Male, WTSI
Sec23atm1a(KOMP)Wtsi
HET, Male, WTSI
Sec23atm1a(KOMP)Wtsi
HET, Female, WTSI

View all 101 images

Sec23atm1a(KOMP)Wtsi
corpus callosum, decreased corpus callosum size, HET, Male, WTSI
Sec23atm1a(KOMP)Wtsi
lateral ventricle, enlarged lateral ventricles, HET, Male, WTSI
Sec23atm1a(KOMP)Wtsi
decreased corpus callosum size, corpus callosum, HET, Male, WTSI
Sec23atm1a(KOMP)Wtsi
lateral ventricle, enlarged lateral ventricles, HET, Male, WTSI
Sec23atm1a(KOMP)Wtsi
corpus callosum, decreased corpus callosum size, HET, Male, WTSI

View all 6 images

Sec23atm1a(KOMP)Wtsi
back skin, HET, Female, WTSI
Sec23atm1a(KOMP)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Sec23a 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 Sec23a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Craniolenticulosutural Dysplasia
Wide anterior fontanel OMIM:607812
Craniolenticulosutural Dysplasia
ORPHA:50814

The table below shows human diseases predicted to be associated to Sec23a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydrocephalus, Cerebellar hemorrhage, S... ORPHA:97339
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... ORPHA:36382
Brain Small Vessel Disease 2
Intracranial hemorrhage, Ventriculomegaly OMIM:614483
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Ventriculomegaly, Meningocele, Dandy-Walker malformation ORPHA:2481
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Joubert Syndrome 15
Exencephaly OMIM:614464
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Lateral ventricle dilatation, Spina bifida occulta, Subdural hemorrhage, Ventriculomegaly OMIM:618291
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... ORPHA:136
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension, Dandy-Walker ma... OMIM:614424
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... ORPHA:331
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... OMIM:202400
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hypertension... ORPHA:90065
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial... ORPHA:449285
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... ORPHA:465
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly, Elevated circulating creatine kinase concentration ORPHA:588
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Elevated circulating creatine kinase concentration, Spina bifida OMIM:211960
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... ORPHA:853
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis ORPHA:140989
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Fibronectin Glomerulopathy
Hypertension, Hypoalbuminemia, Cerebral hemorrhage ORPHA:84090
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... ORPHA:98878
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Pseudo-Torch Syndrome 2
Ventriculomegaly, Cerebral hemorrhage, Patent ductus arteriosus, Lateral ventricle dilatation, Br... OMIM:617397
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Pul... ORPHA:1908
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... ORPHA:90307
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum OMIM:207950
Acquired Purpura Fulminans
Shock, Elevated circulating C-reactive protein concentration, Intracranial hemorrhage, Prolonged ... ORPHA:49566
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... ORPHA:280679
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... ORPHA:53719
Sneddon Syndrome
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... ORPHA:101030
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui... ORPHA:99828
Cerebral Visual Impairment
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke ORPHA:447788
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation, Dandy-Wa... OMIM:611134
Mirage Syndrome
Patent ductus arteriosus, Hydrocephalus, Intracranial hemorrhage, Intrauterine growth retardation... OMIM:617053
Menkes Disease
Intracranial hemorrhage, Intrauterine growth retardation, Decreased circulating ceruloplasmin con... OMIM:309400
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Familial Afibrinogenemia
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea... OMIM:620300
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... ORPHA:91387
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... ORPHA:624
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... ORPHA:774
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous retur... ORPHA:1120
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Intrauterine growth retardation, Dandy-Walker malformation OMIM:603194
Fetal Gaucher Disease
Intracranial hemorrhage, Stillbirth, Neonatal death ORPHA:85212
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension... OMIM:300845
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage, Ventriculomegaly ORPHA:25
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Ventriculomegaly, Moyamoya phenomenon ORPHA:401986
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Hydrocephalus, Holopros... ORPHA:2356
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... ORPHA:464321
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Abnormal cerebral vein morphology, Venous malformation ORPHA:60015
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility ORPHA:3226
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... ORPHA:494424
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Wildervanck Syndrome
Meningocele ORPHA:3456
Hypophosphatasia, Infantile
Intracranial hemorrhage, Stillbirth OMIM:241500
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension OMIM:263400
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage OMIM:263300
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave, Decreased circul... ORPHA:231625
Aspergillosis
Intracranial hemorrhage, Stroke ORPHA:1163
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Amish Lethal Microcephaly
Ventriculomegaly, Agenesis of corpus callosum, Spina bifida ORPHA:99742
Humero-Radial Synostosis
Meningocele ORPHA:3265
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated creatine kinase after exercise, Sudden cardiac death, Congestive heart failure, Cerebell... ORPHA:99901
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:251274
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Stormorken Syndrome
Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Elevated circulating creatine kinase conce... OMIM:185070
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Oral cavity bleeding, Menorrhagi... ORPHA:324636
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage, Elevated circulating creatine kinase concentration OMIM:615368
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... ORPHA:369929
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Triploidy
Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Propionic Acidemia
Cardiomyopathy, Cerebellar hemorrhage OMIM:606054
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Antenatal intracerebral hemorrhage, Dilated c... OMIM:608836
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Alg3-Cdg
Neural tube defect, Coarctation of the descending aortic arch, Dandy-Walker malformation, Cardiom... ORPHA:79321
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Ventriculomegaly ORPHA:2031
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... ORPHA:565
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly OMIM:613603
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Myelomeningocele, Hydrocepha... OMIM:613686
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly ORPHA:2211
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Pseudo-Torch Syndrome 3
Hypertension, Increased circulating ferritin concentration, Cerebral hemorrhage OMIM:618886
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Patent ductus arteriosus, Hydrocephalus, Heart murmur, Intracranial hemorrhage, Interrupted aorti... ORPHA:163979
Medulloblastoma
Cerebellar hemorrhage, Hydrocephalus ORPHA:616
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1827
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrhage, Pulmonary arteria... ORPHA:79282
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Anomalous pulmonary venous return, Umbilical hernia, Spina bifida occulta, Intrauter... ORPHA:2311
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Intraventricular hemorrhage, Prolonged prothr... OMIM:619055
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... ORPHA:90068
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... ORPHA:906
Tarp Syndrome
Neonatal death, Intrauterine growth retardation, Tetralogy of Fallot, Subdural hemorrhage OMIM:311900
Tempi Syndrome
Intracranial hemorrhage, Telangiectasia ORPHA:284227
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus ORPHA:91350
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Subarachnoid hemorrhage OMIM:243700
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... OMIM:232300
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Absent nasal septal cartilage ORPHA:2003
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... ORPHA:99827
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Ventriculomegaly OMIM:616430
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100006
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Ventriculomegaly, Spina bifida OMIM:616038
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:276621
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... ORPHA:340
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Abnormal lymphatic vessel morphology, Subconju... ORPHA:464329
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation, Subcutaneou... ORPHA:109
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Lateral Meningocele Syndrome
Patent ductus arteriosus, Hydrocephalus, Meningocele, Umbilical hernia, Aortic aneurysm OMIM:130720
Kyphoscoliotic Ehlers-Danlos Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Umbilical hernia, Bruising susceptibi... ORPHA:536545
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Acys Amyloidosis
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100008
Classic Homocystinuria
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... ORPHA:394
Hydranencephaly
Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morphology, Dilatation of th... ORPHA:2177
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Superficial Siderosis
Abnormal bleeding, Enlarged sylvian cistern, Subarachnoid hemorrhage, Abnormal vertebral artery m... ORPHA:247245
Osteogenesis Imperfecta
Aortic regurgitation, Cerebral hemorrhage, Hydrocephalus, Noncommunicating hydrocephalus, Aortic ... ORPHA:666
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Intraventricular hemorrhage, Hydrocephalus, Cardiomyopathy, Pulmonic stenosis, Agen... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Intraventricular hemorrhage, Hydrocephalus, Cardiomyopathy, Pulmonic stenosis, Agen... ORPHA:363958
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension, Decreased circulating renin level ORPHA:90795
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Ventriculomegaly, Meningocele, Lateral ventricle dilatation, Colpocephal... ORPHA:397715
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:29072
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... ORPHA:363618
Ollier Disease
Multiple enchondromatosis, Abnormal cartilage morphology ORPHA:296
Mosaic Trisomy 9
Spina bifida, Patent ductus arteriosus, Intrauterine growth retardation, Dandy-Walker malformatio... ORPHA:99776
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele, Agenesis of corpus callosum, Ventriculomegaly OMIM:601707
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... OMIM:171300
Meningioma
Hydrocephalus, Syncope, Chromosomal breakage induced by ionizing radiation, Cerebral hemorrhage ORPHA:2495
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage OMIM:618480
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Idiopathic Hypereosinophilic Syndrome
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... ORPHA:3260
Riddle Syndrome
Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Intraventricul... ORPHA:420741
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag... OMIM:613795
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Elevated circulating creatine kinase concentration, Cerebral he... OMIM:175780
Cerebrocostomandibular Syndrome
Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth retardation ORPHA:1393
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Vacterl With Hydrocephalus
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida ORPHA:3412
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Subdural hemorrhage, Cerebral hemorrhage OMIM:620278
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage, Intrauterine growth retardation ORPHA:79284
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Hepatic necrosis, Hepatocellular necrosis,... ORPHA:90062
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... ORPHA:2369
Cockayne Syndrome Type 3
Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aortic root aneurysm, Stroke, Increased ... ORPHA:90324
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:616546
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Mitral stenosis, Angina pectoris, Left ventricular systolic dysfunction, My... ORPHA:740
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele ORPHA:2789
Hellp Syndrome
Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension ORPHA:244242
Neu-Laxova Syndrome
Intrauterine growth retardation, Ventriculomegaly, Dandy-Walker malformation, Spina bifida ORPHA:2671
Neu-Laxova Syndrome 1
Ventriculomegaly, Spina bifida, Patent ductus arteriosus, Stillbirth, Short umbilical cord, Small... OMIM:256520
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Witteveen-Kolk Syndrome
Branchial fistula, Dysplastic corpus callosum, Intracranial hemorrhage, Intrauterine growth retar... OMIM:613406
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Arrhythmia, Spina bifida ORPHA:2874
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Absent nasal se... OMIM:610828
Fanconi Anemia
Abnormality of chromosome stability, Spina bifida, Hydrocephalus, Patent ductus arteriosus, Abnor... ORPHA:84
Pagod Syndrome
Encephalocele, Sudden cardiac death, Spina bifida, Meningocele, Pulmonary artery hypoplasia, Abno... ORPHA:991
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosis OMIM:162200
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Abnormal branching pattern of the aortic arch, L... OMIM:619472
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Purpura, Spina bifida, Retinal arteriolar tortuosity, Hydrocephalus,... ORPHA:567
Dpagt1-Cdg
Intracranial hemorrhage, Prolonged QT interval, Stroke-like episode ORPHA:86309
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Spina bifida, Coarctation of aorta, Truncus arteriosus, Tetralogy of Fallot... ORPHA:508498
Trisomy 18
Intrauterine growth retardation, Anencephaly, Holoprosencephaly, Spina bifida ORPHA:3380
Aicardi Syndrome
Spina bifida, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Dilated thir... OMIM:304050
Focal Dermal Hypoplasia
Umbilical hernia, Patent ductus arteriosus, Telangiectasia of the skin, Spina bifida ORPHA:2092
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Jacobsen Syndrome
Spina bifida, Coarctation of aorta, Intrauterine growth retardation, Aortic valve stenosis, Agene... ORPHA:2308
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Intrauterine growth retardation, Subdural hemorrhage OMIM:619714
Nelson Syndrome
Intracranial hemorrhage, Hypertension ORPHA:199244
Encephalocraniocutaneous Lipomatosis
Abnormal cartilage morphology, Coarctation of aorta, Abnormal aortic morphology, Interrupted aort... ORPHA:2396
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Hallermann-Streiff Syndrome
Hypertension, Pulmonary arterial hypertension, Spina bifida, Telangiectasia OMIM:234100
Knobloch Syndrome 1
Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele, Spina bifida occulta, V... OMIM:267750
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Nail-Patella Syndrome
Spina bifida OMIM:161200
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Fibular Hemimelia
Spina bifida ORPHA:93323
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Abnormal cartilage morphology, Abnormal cartilage matrix ORPHA:2347
Orofaciodigital Syndrome Vi
Occipital meningocele, Agenesis of corpus callosum, Coarctation of aorta OMIM:277170
Marfan Syndrome
Congestive heart failure, Descending aortic dissection, Meningocele, Dilatation of an abdominal a... ORPHA:558
Arima Syndrome
Dilated fourth ventricle, Occipital meningocele, Hypertension OMIM:243910
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Partial agenesis of the corpus callosum, Spina bifida, Coarctation of a... OMIM:619480
Campomelic Dysplasia
Wide anterior fontanel, Hydrocephalus, Spina bifida, Spinal dysraphism OMIM:114290
Acute Transverse Myelitis
Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage ORPHA:139417
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele ORPHA:2879
Thrombocytopenia-Absent Radius Syndrome
Spina bifida, Patent ductus arteriosus, Prolonged bleeding following circumcision, Coarctation of... OMIM:274000
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Vater/Vacterl Association
Occipital encephalocele, Spina bifida, Patent ductus arteriosus, Transposition of the great arter... OMIM:192350
Rubinstein-Taybi Syndrome 1
Spina bifida, Wide anterior fontanel, Patent ductus arteriosus, Coarctation of aorta, Vascular ri... OMIM:180849
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Multiple Osteochondromas
Cervical myelopathy, Abnormal cartilage morphology, Pseudoaneurysm, Hemothorax ORPHA:321
Otopalatodigital Syndrome, Type Ii
Spina bifida, Wide anterior fontanel, Hydrocephalus, Stillbirth, Umbilical hernia, Dilatation of ... OMIM:304120
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Spondyloepiphyseal Dysplasia Tarda
Abnormal cartilage morphology ORPHA:93284
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Pmm2-Cdg
Pericarditis, Angina pectoris, Reduced thyroxin-binding globulin, Intracranial hemorrhage, Hypoal... ORPHA:79318
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele OMIM:276820
Craniolenticulosutural Dysplasia
Wide anterior fontanel OMIM:607812
Craniolenticulosutural Dysplasia
ORPHA:50814

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.

Phenotype Allele Zygosity Sex Life Stage
Brain - process of degenerative change Sec23atm1a(KOMP)Wtsi HET Early adult
Brain - developmental dysplasia Sec23atm1a(KOMP)Wtsi HET Early adult

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 Sec23a.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Sec23atm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Sec23atm1a(KOMP)Wtsi PMC6459510
Pancreatic SEC23B deficiency is sufficient to explain the perinatal lethality of germline SEC23B deficiency in mice. Scientific reports (June 2016) Sec23atm1a(KOMP)Wtsi PMC4906273

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
Sec23atm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Sec23atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Sec23atm44833(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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