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Gene: Sec23a MGI:1349635

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Gene Summary

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

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

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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
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Dural Sinus Malformation
Myelopathy, Abnormal facial vein morphology, Subdural hemorrhage, Stroke, Subarachnoid hemorrhage... ORPHA:97339
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Brain Small Vessel Disease 2
Ventriculomegaly, Intracranial hemorrhage OMIM:614483
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... ORPHA:36382
Neurocutaneous Melanocytosis
Ventriculomegaly, Meningocele, Intracranial hemorrhage, Dandy-Walker malformation ORPHA:2481
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... ORPHA:169805
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Ventriculomegaly, Subdural hemorrhage, Lateral ventricle dilatation OMIM:618291
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Joubert Syndrome 15
Exencephaly OMIM:614464
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... ORPHA:284388
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke, Cerebra... ORPHA:136
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension, Dandy-Walker ma... OMIM:614424
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... ORPHA:331
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... ORPHA:169802
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery... ORPHA:90065
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Sneddon Syndrome
Arterial stenosis, Hypertension, Intracranial hemorrhage ORPHA:820
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Cerebral ischemi... ORPHA:449285
Abeta Amyloidosis, Iowa Type
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Elevated circulating creatine kinase concentration OMIM:211960
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus, Elevated circulating creatine kinase concentration ORPHA:588
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... ORPHA:853
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr... ORPHA:465
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:227500
Primary Angiitis Of The Central Nervous System
Stroke, Transient ischemic attack, Intracranial hemorrhage, Cerebral vasculitis ORPHA:140989
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... ORPHA:31825
Fibronectin Glomerulopathy
Hypoalbuminemia, Hypertension, Cerebral hemorrhage ORPHA:84090
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation, Petechiae, Bradycardia, Cerebral hemorrhage, Pate... OMIM:617397
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Parkes Weber Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Arteriovenous malformation, Myelop... ORPHA:90307
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Encephalocele, Hydroceph... ORPHA:1908
Periventricular Nodular Heterotopia 1
Stroke, Patent ductus arteriosus, Cerebral hemorrhage OMIM:300049
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Elevated circulating C-r... ORPHA:49566
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida OMIM:207950
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, Ce... ORPHA:280679
Wyburn-Mason Syndrome
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... ORPHA:53719
Sneddon Syndrome
Stroke, Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Recurrent cerebra... OMIM:605714
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele, Partial agenes... ORPHA:101030
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... ORPHA:99828
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke, Hydrocephalus ORPHA:447788
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Mirage Syndrome
Intrauterine growth retardation, Petechiae, Hydrocephalus, Intracranial hemorrhage, Patent ductus... OMIM:617053
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Wa... OMIM:611134
Menkes Disease
Intrauterine growth retardation, Intracranial hemorrhage, Decreased circulating ceruloplasmin con... OMIM:309400
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Familial Afibrinogenemia
Gingival bleeding, Epistaxis, Abnormal bleeding, Cerebral hemorrhage ORPHA:98880
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Carotid artery dilatation, Patent ductus arterio... ORPHA:91387
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Elevated circ... OMIM:620300
Familial Multiple Nevi Flammei
Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he... ORPHA:624
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Tricuspid regurgitation, ... OMIM:620371
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Ventriculomegaly, Tricuspid regurgitation, Coarctation of aorta, Spina bifida, Patent ductus arte... ORPHA:1120
Fetal Gaucher Disease
Intracranial hemorrhage, Stillbirth, Neonatal death ORPHA:85212
Meckel Syndrome, Type 2
Intrauterine growth retardation, Encephalocele, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:603194
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-li... OMIM:300845
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular... ORPHA:464321
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Ventriculomegaly, Communicating hydrocephalus, Subdural hemorrhage ORPHA:25
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Ventriculomegaly, Intraventricular hemorrhage ORPHA:401986
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time ORPHA:3226
Arachnoid Cyst
Enlarged fossa interpeduncularis, Encephalocele, Subarachnoid hemorrhage, Hydrocephalus, Holopros... ORPHA:2356
Enlarged Parietal Foramina
Myelomeningocele, Venous malformation, Occipital encephalocele, Abnormal cerebral vein morphology ORPHA:60015
Amish Lethal Microcephaly
Ventriculomegaly, Spina bifida, Agenesis of corpus callosum ORPHA:99742
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi... ORPHA:494424
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Hypophosphatasia, Infantile
Intracranial hemorrhage, Stillbirth OMIM:241500
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Medial calcification of medi... OMIM:177850
Aspergillosis
Stroke, Intracranial hemorrhage ORPHA:1163
Erythrocytosis, Familial, 2
Hypotension, Varicose veins, Stroke, Pulmonary arterial hypertension, Cerebral hemorrhage OMIM:263400
Polycythemia Vera
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage OMIM:263300
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:403
Familial Hyperaldosteronism Type Ii
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:404
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebellar hemorrh... ORPHA:99901
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Decreased circulating renin level, Intracranial hemorrh... ORPHA:231625
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Ecchymo... ORPHA:324636
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:251274
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Subdural hemorrhage, Elevated circulating creatine kinase concentration OMIM:615368
Wildervanck Syndrome
Meningocele ORPHA:3456
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Pulmonary arterial hypertension, Intracranial he... ORPHA:369929
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, High-output c... OMIM:187300
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Spina bifida, Hydrocephalus ORPHA:2437
Stormorken Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, Elevated circulating ... OMIM:185070
Humero-Radial Synostosis
Meningocele ORPHA:3265
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas... OMIM:610655
Triploidy
Intrauterine growth retardation, Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:3376
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Aplasia of posterior communicating artery, Myelomeningocele, Hydroce... OMIM:613686
Propionic Acidemia
Cerebellar hemorrhage, Cardiomyopathy OMIM:606054
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ventriculomegaly, Dilated cardiomyopathy, Agenesis of corpus callosum, Elevated circulating creat... OMIM:608836
Alg3-Cdg
Cardiomyopathy, Dandy-Walker malformation, Neural tube defect, Coarctation of the descending aort... ORPHA:79321
Erythrocytosis, Familial, 1
Hypertension, Myocardial infarction, Cerebral hemorrhage OMIM:133100
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Intellectual Developmental Disorder, Autosomal Dominant 72
Spina bifida OMIM:620439
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Menkes Disease
Gastrointestinal hemorrhage, Spontaneous hematomas, Umbilical hernia, Arterial stenosis, Intraute... ORPHA:565
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly ORPHA:2211
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Ventriculomegaly, Meningocele ORPHA:2031
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Ventriculomegaly, Intraventricular hemorrhage, Hydrocephalus OMIM:613603
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Medulloblastoma
Cerebellar hemorrhage, Hydrocephalus ORPHA:616
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Hydrocephalus, Heart murmur, Intracranial hemorrhage, Patent ductus arte... ORPHA:163979
Pseudo-Torch Syndrome 3
Hypertension, Increased circulating ferritin concentration, Cerebral hemorrhage OMIM:618886
Acromelic Frontonasal Dysplasia
Ventriculomegaly, Meningocele, Encephalocele, Agenesis of corpus callosum ORPHA:1827
Wiskott-Aldrich Syndrome
Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hema... ORPHA:906
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art... OMIM:600376
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Intrauterine growth retardation, Elevated circulating creatine kinase concentrat... OMIM:619055
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Intrauterine growth retardation, Spina bifida occulta, Meningocele, Anomalous p... ORPHA:2311
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro... ORPHA:90068
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Intrauterine growth retardation,... ORPHA:79282
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ... ORPHA:774
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage ORPHA:284227
Tarp Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Subdural hemorrhage, Neonatal death OMIM:311900
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus ORPHA:91350
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Hemoth... ORPHA:99827
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Absent nasal septal cartilage ORPHA:2003
Combined Oxidative Phosphorylation Deficiency 25
Ventriculomegaly, Intraventricular hemorrhage OMIM:616430
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100006
Glycogen Storage Disease Ii
Sinus tachycardia, Dilatation of the cerebral artery, Shortened PR interval, Elevated circulating... OMIM:232300
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:276621
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Ventriculomegaly, Spina bifida OMIM:616038
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Cardiomyopathy OMIM:251000
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal lymphatic vessel morphology, Ecch... ORPHA:464329
Iniencephaly
Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Holoprosencephal... ORPHA:63259
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Petechiae, Ecchymosis, H... ORPHA:340
Bannayan-Riley-Ruvalcaba Syndrome
Arteriovenous malformation, Subcutaneous hemorrhage, Telangiectasia, Angina pectoris, Aortic aneu... ORPHA:109
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Lateral Meningocele Syndrome
Umbilical hernia, Aortic aneurysm, Hydrocephalus, Meningocele, Patent ductus arteriosus OMIM:130720
Hydranencephaly
Ventriculomegaly, Dilatation of the ventricular cavity, Intrauterine growth retardation, Abnormal... ORPHA:2177
Pelvis-Shoulder Dysplasia
Hydrocephalus, Hydranencephaly, Spina bifida ORPHA:2839
Kyphoscoliotic Ehlers-Danlos Syndrome
Subdural hemorrhage, Bruising susceptibility, Umbilical hernia, Arterial rupture, Aortic aneurysm... ORPHA:536545
Acys Amyloidosis
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100008
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Arteriovenous malformation, Pulmonary embolism, Subcutaneous hemorrh... ORPHA:394
Fliedner-Zweier Syndrome
Meningocele, Hypoplastic aortic arch OMIM:620511
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Superficial Siderosis
Abnormal bleeding, Arteriovenous malformation, Abnormal vertebral artery morphology, Subarachnoid... ORPHA:247245
Osteogenesis Imperfecta
Arterial dissection, Aortic regurgitation, Ventriculomegaly, Aortic root aneurysm, Aortic dissect... ORPHA:666
Koolen-De Vries Syndrome Due To A Point Mutation
Ventriculomegaly, Cardiomyopathy, Agenesis of corpus callosum, Intraventricular hemorrhage, Aorti... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Ventriculomegaly, Cardiomyopathy, Agenesis of corpus callosum, Intraventricular hemorrhage, Aorti... 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
Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation,... ORPHA:397715
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:29072
Ollier Disease
Multiple enchondromatosis, Abnormal cartilage morphology ORPHA:296
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Aortic root aneurysm, Congestive heart failure, Aortic atherosclerotic les... ORPHA:363618
Mosaic Trisomy 9
Ventriculomegaly, Intrauterine growth retardation, Spina bifida, Patent ductus arteriosus, Dandy-... ORPHA:99776
Curry-Jones Syndrome
Ventriculomegaly, Occipital meningocele, Lipomyelomeningocele, Agenesis of corpus callosum OMIM:601707
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert... OMIM:171300
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Subarachnoid hemorrhage, Cerebral vasculitis OMIM:243700
Meningioma
Syncope, Chromosomal breakage induced by ionizing radiation, Hydrocephalus, Cerebral hemorrhage ORPHA:2495
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage OMIM:618480
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Congestive heart failure, Transient ischemic attack, ... ORPHA:3260
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida, Umbilical hernia OMIM:613776
Riddle Syndrome
Telangiectasia, Conjunctival telangiectasia, Intraventricular hemorrhage, Chromosomal breakage in... ORPHA:420741
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitation, Intervertebral disk ... OMIM:613795
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Retinal arteriolar tortuosity, Ischemic stroke, Corneal neovasc... OMIM:175780
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Spina bifida, Meningocele ORPHA:1393
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Intrauterine growth retardation, Spina bifida ORPHA:3412
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intrauterine growth retardation, Intraventricular hemorrhage ORPHA:79284
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Subdural hemorrhage, Cerebral hemorrhage OMIM:620278
Cockayne Syndrome Type 3
Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Premature coronary artery athe... ORPHA:90324
Limb Body Wall Complex
Myelomeningocele, Encephalocele, Short umbilical cord, Spina bifida, Hydrocephalus, Spina bifida ... ORPHA:2369
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Ventriculomegaly, Anencephaly, Hydrocephalus, Occipital meningocele OMIM:616546
Neu-Laxova Syndrome
Intrauterine growth retardation, Ventriculomegaly, Spina bifida, Dandy-Walker malformation ORPHA:2671
Lateral Meningocele Syndrome
Meningocele, Umbilical hernia ORPHA:2789
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Carotid artery occlusion, Aortic regurgitation, Atherosclerosis, Left vent... ORPHA:740
Hellp Syndrome
Hypotension, Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage ORPHA:244242
Witteveen-Kolk Syndrome
Ventriculomegaly, Branchial fistula, Intrauterine growth retardation, Dysplastic corpus callosum,... OMIM:613406
Neu-Laxova Syndrome 1
Hydranencephaly, Ventriculomegaly, Small placenta, Intrauterine growth retardation, Short umbilic... OMIM:256520
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Arrhythmia, Spina bifida ORPHA:2874
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Hydrocephalus... OMIM:610828
Fanconi Anemia
Ventriculomegaly, Abnormality of chromosome stability, Arteriovenous malformation, Umbilical hern... ORPHA:84
Viss Syndrome
Iliac artery aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Bruising susceptibility, ... OMIM:619472
Pagod Syndrome
Pulmonary artery hypoplasia, Encephalocele, Abnormal aortic morphology, Arrhythmia, Spina bifida,... ORPHA:991
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Aortic root aneurysm, Pulmonary artery dilatation, Vascular tortuosity... OMIM:614437
Dpagt1-Cdg
Prolonged QT interval, Stroke-like episode, Intracranial hemorrhage ORPHA:86309
Neurofibromatosis, Type I
Renal artery stenosis, Hydrocephalus, Spina bifida, Aqueductal stenosis, Hypertension OMIM:162200
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Ventriculomegaly, Tetralogy of Fallot, Truncus arteriosus, Agenesis of corp... ORPHA:508498
Trisomy 18
Intrauterine growth retardation, Holoprosencephaly, Anencephaly, Spina bifida ORPHA:3380
Acute Liver Failure
Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Prol... ORPHA:90062
Focal Dermal Hypoplasia
Patent ductus arteriosus, Telangiectasia of the skin, Spina bifida, Umbilical hernia ORPHA:2092
Aicardi Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Spina bifida, Partial agenesis of the corp... OMIM:304050
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Interrupted aortic arch, Ventriculomegaly, Abnormal cartilage morphology, ... ORPHA:2396
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
22Q11.2 Deletion Syndrome
Hypertensive crisis, Gastrointestinal hemorrhage, Abnormal aortic arch morphology, Umbilical hern... ORPHA:567
Knobloch Syndrome 1
Ventriculomegaly, Occipital encephalocele, Spina bifida occulta, Occipital meningocele, Patent du... OMIM:267750
Jacobsen Syndrome
Aortic valve stenosis, Ventriculomegaly, Intrauterine growth retardation, Agenesis of corpus call... 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
Hallermann-Streiff Syndrome
Telangiectasia, Pulmonary arterial hypertension, Hypertension, Spina bifida OMIM:234100
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Nail-Patella Syndrome
Spina bifida OMIM:161200
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Marfan Syndrome
Aortic regurgitation, Arterial dissection, Aortic root aneurysm, Aortic dissection, Abnormal left... ORPHA:558
Fibular Hemimelia
Spina bifida ORPHA:93323
Lethal Kniest-Like Dysplasia
Abnormal cartilage matrix, Wide anterior fontanel, Abnormal cartilage morphology ORPHA:2347
Femoral-Facial Syndrome
Ventriculomegaly, Encephalocele, Truncus arteriosus, Agenesis of corpus callosum, Coarctation of ... OMIM:134780
Orofaciodigital Syndrome Vi
Coarctation of aorta, Occipital meningocele, Agenesis of corpus callosum OMIM:277170
Arima Syndrome
Hypertension, Dilated fourth ventricle, Occipital meningocele OMIM:243910
Acute Transverse Myelitis
Subarachnoid hemorrhage, Hypertension, Orthostatic hypotension ORPHA:139417
Vater/Vacterl Association
Occipital encephalocele, Tetralogy of Fallot, Intrauterine growth retardation, Transposition of t... OMIM:192350
Campomelic Dysplasia
Hydrocephalus, Spinal dysraphism, Spina bifida, Wide anterior fontanel OMIM:114290
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Partial agenesis of the corpus callosum, Coarctation of aorta, Spina bifida, Patent ductus arteri... OMIM:619480
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele ORPHA:2879
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Holoprosencephaly 9
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Holoprosencepha... OMIM:610829
Thrombocytopenia-Absent Radius Syndrome
Prolonged bleeding following circumcision, Tetralogy of Fallot, Coarctation of aorta, Spina bifid... OMIM:274000
Rubinstein-Taybi Syndrome 1
Wide anterior fontanel, Aortic isthmus hypoplasia, Agenesis of corpus callosum, Persistent left s... OMIM:180849
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Multiple Osteochondromas
Cervical myelopathy, Hemothorax, Abnormal cartilage morphology, Pseudoaneurysm ORPHA:321
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Hydrocephalus, Spina bifida, Stillbirth, Dilatation of the sinus of Valsalva, W... 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
Hypoalbuminemia, Hypertrophic cardiomyopathy, Reduced thyroxin-binding globulin, Angina pectoris,... 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 - developmental dysplasia Sec23atm1a(KOMP)Wtsi HET Early adult
Brain - process of degenerative change 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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