Gene Summary

Name:
collagen, type V, alpha 1
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Col5a1tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
increased circulating cholesterol level Col5a1tm1a(EUCOMM)Hmgu HET Early adult 3.74×10-05
abnormal behavior Col5a1tm1a(EUCOMM)Hmgu HET Early adult 2.83×10-06
increased startle reflex Col5a1tm1a(EUCOMM)Hmgu HET Early adult 5.88×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

Phenotype associated images not available

Human diseases caused by Col5a1 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 Col5a1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fibromuscular Dysplasia, Multifocal
Pulmonary artery aneurysm, Celiac artery dissection, Tortuous cerebral arteries, Dilatation of th... OMIM:619329
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm OMIM:130000
Classical Ehlers-Danlos Syndrome
Dilatation of the cerebral artery, Arterial dissection, Aortic root aneurysm, Arteriovenous fistula ORPHA:287

The table below shows human diseases predicted to be associated to Col5a1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po... OMIM:132900
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Head tremor, Postural tremor, Elevated circulating creatine kinase concentration... ORPHA:64753
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... ORPHA:3400
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Dystonia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentra... OMIM:616267
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Tremor, Elevated circulating creatine kinase concentration, Hypercholesterolemia... OMIM:208920
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:617349
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Fibromuscular Dysplasia, Arterial
Stroke, Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Action tremor, Hyperuricemia ORPHA:77296
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia,... OMIM:277460
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Tremor, Acute hyperammo... ORPHA:247585
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Tetralogy of Fallot, Right aortic arch, Pulmonary artery atre... OMIM:618780
Tricuspid Atresia
Persistent left superior vena cava, Coarctation of aorta, Transposition of the great arteries, Pu... ORPHA:1209
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta OMIM:615779
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Laron Syndrome
Hypercholesterolemia ORPHA:633
Galactokinase Deficiency
Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma ORPHA:79237
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Aortic tortuosity, Ascending aortic dissection OMIM:616166
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Tetralogy of Fallot, Right aortic arch, Coarctation of a... OMIM:613854
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Conotruncal Heart Malformations
Coarctation of aorta, Transposition of the great arteries, Double outlet right ventricle, Truncus... OMIM:217095
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Webbed neck, Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... OMIM:278000
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Coarctation of aorta OMIM:616069
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery ORPHA:1166
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellular matrix accumulatio... ORPHA:91387
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Coarctation of aorta, Transposition of the great arteries ORPHA:261243
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Th... ORPHA:449400
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta, Aortic tortuosity, Ascending a... OMIM:614823
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus OMIM:601612
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia ORPHA:2457
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, De... ORPHA:860
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aorta morphology, Tetralogy... ORPHA:99050
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus ORPHA:1455
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Coarctation of aorta, Recurrent skin infections OMIM:620210
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79240
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology ORPHA:3222
Noonan Syndrome 9
Webbed neck, Coarctation of aorta OMIM:616559
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Intellectual Developmental Disorder, Autosomal Dominant 21
Coarctation of aorta, Patent ductus arteriosus OMIM:615502
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Methimazole Embryofetopathy
Coarctation of aorta, Abnormal aortic morphology ORPHA:1923
Congenital Disorder Of Glycosylation, Type Iiaa
Hypercholesterolemia, Hyperammonemia OMIM:620454
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... ORPHA:470
Diabetic Embryopathy
Tetralogy of Fallot, Transposition of the great arteries, Abnormal aortic morphology, Abnormality... ORPHA:1926
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Arteria lusoria, Truncus arteriosus, Transposition of the gre... OMIM:620294
Scimitar Syndrome
Descending aorta hypoplasia, Pulmonary artery hypoplasia, Anomalous origin of left coronary arter... ORPHA:185
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Myofibrillar Myopathy 11
Coarctation of aorta OMIM:619178
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Prader-Willi Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:176270
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Septopreoptic Holoprosencephaly
Coarctation of aorta ORPHA:280195
Malignant Migrating Focal Seizures Of Infancy
Aortopulmonary collateral arteries ORPHA:293181
Transaldolase Deficiency
Coarctation of aorta ORPHA:101028
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Phace Association
Arterial stenosis, Aortic aneurysm, Coarctation of aorta, Anomalous branches of internal carotid ... OMIM:606519
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia ORPHA:275761
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a... OMIM:610338
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Congenitally corrected transposition of the great arteries wi... OMIM:617205
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Transient ischemic attack, Coarctation of aorta, Double outlet right ventric... ORPHA:1330
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Loeys-Dietz Syndrome 6
Vertebral artery aneurysm, Arterial tortuosity, Dilatation of the cerebral artery, Transient isch... OMIM:619656
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Holt-Oram Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:392
Arterial Tortuosity Syndrome
Aortic root aneurysm, Generalized arterial tortuosity, Ischemic stroke, Pulmonary artery stenosis... OMIM:208050
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
8P23.1 Microdeletion Syndrome
Tetralogy of Fallot, Abnormal aortic morphology, Pulmonary artery stenosis, Transposition of the ... ORPHA:251071
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Coarctation of aorta, Patent ductus arteriosus ORPHA:284169
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79259
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Hypoplastic aortic arch, Right aortic arch, Congenital... OMIM:619702
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta ORPHA:2876
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Persistent left superior vena cava, Coarctation of aorta OMIM:618494
Double Outlet Right Ventricle
Tetralogy of Fallot, Truncus arteriosus, Coarctation of aorta, Double outlet right ventricle, Pul... ORPHA:3426
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Arterial Tortuosity Syndrome
Aortic root aneurysm, Aortic dissection, Arterial stenosis, Pulmonary artery stenosis, Aortic ane... ORPHA:3342
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Coarctation of aorta, Patent ductus arteriosus OMIM:614857
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, ... OMIM:614816
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
2Q37 Microdeletion Syndrome
Eczematoid dermatitis, Abnormal aortic morphology ORPHA:1001
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Craniofaciofrontodigital Syndrome
Abnormal cerebral vascular morphology, Dilatation of the cerebral artery, Stroke, Coarctation of ... ORPHA:363705
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:1120
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia ORPHA:534
You-Hoover-Fong Syndrome
Double aortic arch, Coarctation of aorta, Vascular ring OMIM:616954
Meacham Syndrome
Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Persistent left superior vena cava, Coa... OMIM:608978
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Laryngeal dystonia, Tremor, Exaggerated startle response, Dy... ORPHA:845
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Coarctation of aorta, Total anomalous pulmonary venous return ORPHA:261183
Congenital Heart Defects And Skeletal Malformations Syndrome
Coarctation of aorta, Aortic root aneurysm, Thin skin OMIM:617602
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Tetralogy of Fallot,... OMIM:208530
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Combined Oxidative Phosphorylation Deficiency 58
Hyperprolinemia, Hyperalaninemia, Exaggerated startle response OMIM:620451
Cardiac Diverticulum
Pulmonary artery hypoplasia, Tetralogy of Fallot, Abnormal aortic morphology, Pulmonary artery st... ORPHA:1686
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Loeys-Dietz Syndrome
Arterial dissection, Aortic dissection, Arterial tortuosity, Aortic aneurysm, Vascular dilatation... ORPHA:60030
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Webbed neck, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Coarctation of aorta, Hy... OMIM:617506
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta OMIM:217085
Asparagine Synthetase Deficiency
Hypoasparaginemia, Tremor, Exaggerated startle response OMIM:615574
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Hyperglycinemia, Hypernatremia, Exaggerated startle response OMIM:620423
Transaldolase Deficiency
Coarctation of aorta, Patent ductus arteriosus OMIM:606003
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Aortic dissection, Pulmonary arteriovenous malformation, Stroke, Hepatic arteriovenous malformati... OMIM:175050
Fryns Syndrome
Tetralogy of Fallot, Abnormal aortic arch morphology, Abnormal aortic morphology ORPHA:2059
Fixed Subaortic Stenosis
Coarctation of aorta, Patent ductus arteriosus, Ascending tubular aorta aneurysm ORPHA:3092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Aortic dissection, Abnormal venous morphology, Aortic aneurysm, Vascular dil... ORPHA:1900
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Tetralogy of Fallot, Truncus arteriosus, Coarctati... OMIM:601186
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus OMIM:617159
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Giant Cell Arteritis
Vasculitis, Abdominal aortic aneurysm, Aortic dissection, Double outlet right ventricle with subp... ORPHA:397
Kleefstra Syndrome Due To 9Q34 Microdeletion
Tetralogy of Fallot, Coarctation of aorta, Conotruncal defect ORPHA:96147
Familial Bicuspid Aortic Valve
Thoracic aorta calcification, Aortic arch aneurysm, Coarctation of aorta, Ascending aortic dissec... ORPHA:402075
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Coarctation of aorta OMIM:600987
Hypermethioninemia Due To Adenosine Kinase Deficiency
Coarctation of aorta OMIM:614300
Sandhoff Disease
Exaggerated startle response OMIM:268800
Meacham Syndrome
Tetralogy of Fallot, Conotruncal defect, Coarctation of aorta, Transposition of the great arterie... ORPHA:3097
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Coarctation of aorta OMIM:618929
Lowry-Maclean Syndrome
Coarctation of aorta ORPHA:2409
Alport Syndrome
Aortic aneurysm, Renal glomerular foam cells, Abnormal aortic morphology ORPHA:63
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Coarctation of aorta, Double outlet right ventricle ORPHA:371428
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Noonan Syndrome 10
Webbed neck, Coarctation of aorta, Patent ductus arteriosus OMIM:616564
Kleefstra Syndrome
Tetralogy of Fallot, Pulmonary artery stenosis, Coarctation of aorta ORPHA:261494
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hy... OMIM:309000
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Webbed neck, Pulmonary artery hypoplasia, Aortic root aneurys... OMIM:620025
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Vascular dilatation, Varicose veins OMIM:618343
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Fanconi Anemia, Complementation Group B
Coarctation of aorta, Patent ductus arteriosus OMIM:300514
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Tetralogy of Fallot, Abnormal inferior vena cava morphology,... ORPHA:980
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Fg Syndrome Type 1
Coarctation of aorta ORPHA:93932
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Dextrotransposition of the great arteries, Coarctation o... OMIM:270100
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Coarctation of aorta, Abnormal aortic morphology ORPHA:2396
Kaufman Oculocerebrofacial Syndrome
Coarctation of aorta, Thin skin OMIM:244450
Acrocardiofacial Syndrome
Tetralogy of Fallot, Coarctation of aorta, Truncus arteriosus ORPHA:2008
Osteopathia Striata-Cranial Sclerosis Syndrome
Coarctation of aorta ORPHA:2780
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Bilateral superior vena cava, Dextrotransposition of the... OMIM:306955
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Interrupted aortic arch, Pulmonary artery dilatation, Tetralogy of Fallot, Pulmonary artery steno... OMIM:265380
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus, Absent pulmonary artery OMIM:600460
Phace Syndrome
Aortic root aneurysm, Tetralogy of Fallot, Abnormal cerebral artery morphology, Coarctation of ao... ORPHA:42775
Mosaic Trisomy 1
Pulmonary artery atresia, Coarctation of aorta ORPHA:1692
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Dilatation of the cerebral ar... OMIM:300989
Loeys-Dietz Syndrome 3
Aortic dissection, Arterial tortuosity, Tortuous cerebral arteries, Dilatation of the cerebral ar... OMIM:613795
Noonan Syndrome 2
Webbed neck, Pulmonary artery stenosis, Coarctation of aorta, Abnormal coronary artery origin, Pa... OMIM:605275
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534
Marfan Syndrome
Arterial dissection, Aortic root aneurysm, Aortic dissection, Pulmonary artery dilatation, Aortic... ORPHA:558
Kabuki Syndrome 2
Coarctation of aorta OMIM:300867
Holoprosencephaly
Tetralogy of Fallot, Abnormal aortic morphology ORPHA:2162
Mosaic Variegated Aneuploidy Syndrome
Coarctation of aorta, Abnormal aortic morphology ORPHA:1052
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Coarctation of aorta, Patent ductus arteriosus OMIM:617260
Maternal Phenylketonuria
Tetralogy of Fallot, Coarctation of aorta, Double outlet right ventricle ORPHA:2209
Mosaic Variegated Aneuploidy Syndrome 2
Coarctation of aorta OMIM:614114
Fanconi Anemia
Arteriovenous malformation, Tetralogy of Fallot, Abnormal aortic morphology, Abnormal carotid art... ORPHA:84
Viss Syndrome
Iliac artery aneurysm, Pulmonary artery aneurysm, Atopic dermatitis, Aortic root aneurysm, Eczema... OMIM:619472
Opitz Gbbb Syndrome
Persistent left superior vena cava, Coarctation of aorta, Aortic root aneurysm, Patent ductus art... ORPHA:2745
Autosomal Recessive Robinow Syndrome
Tetralogy of Fallot, Abnormal aortic morphology ORPHA:1507
Congenital Disorder Of Glycosylation, Type It
Coarctation of aorta OMIM:614921
Galloway-Mowat Syndrome 3
Coarctation of aorta OMIM:617729
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Coarctation of aorta OMIM:613426
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Coarctation of aorta, Patent ductus arteriosus ORPHA:17
Developmental Delay With Or Without Dysmorphic Facies And Autism
Coarctation of aorta, Patent ductus arteriosus OMIM:618454
Aneurysm-Osteoarthritis Syndrome
Arterial dissection, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, A... ORPHA:284984
Pseudotrisomy 13 Syndrome
Coarctation of aorta OMIM:264480
Aortic Arch Interruption
Truncus arteriosus, Patent ductus arteriosus, Aortopulmonary window, Transposition of the great a... ORPHA:2299
Jacobsen Syndrome
Webbed neck, Coarctation of aorta, Eczematoid dermatitis ORPHA:2308
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Pagod Syndrome
Pulmonary artery hypoplasia, Abnormal aortic morphology, Abnormality of the pulmonary artery ORPHA:991
Noonan Syndrome
Pulmonary artery stenosis, Webbed neck, Coarctation of aorta, Patent ductus arteriosus ORPHA:648
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries OMIM:617557
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Coarctation of aorta, Seborrheic dermatitis, Patent ductus arteriosus OMIM:274000
Toriello-Carey Syndrome
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus ORPHA:3338
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Arteritis, Abnormal aortic morphology ORPHA:449395
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Tetralogy of Fallot, Coarctation of aorta, Truncus arteriosus ORPHA:508498
Mosaic Trisomy 16
Single coronary artery origin, Coarctation of aorta, Patent ductus arteriosus ORPHA:1708
Orofaciodigital Syndrome Vi
Coarctation of aorta OMIM:277170
Distal Deletion 15Q
Abnormal aortic arch morphology, Coarctation of aorta, Patent ductus arteriosus, Double outlet ri... ORPHA:1596
Cocaine Intoxication
Subarachnoid hemorrhage, Ischemic stroke, Aortic dissection, Cerebral hemorrhage ORPHA:90068
Oculoectodermal Syndrome
Transient ischemic attack, Coarctation of aorta, Patent ductus arteriosus OMIM:600268
Nicolaides-Baraitser Syndrome
Coarctation of aorta, Eczematoid dermatitis OMIM:601358
Hardikar Syndrome
Pulmonary artery stenosis, Coarctation of aorta, Partial anomalous pulmonary venous return, Pruri... OMIM:301068
Mucopolysaccharidosis Type 2, Severe Form
Peripheral arterial stenosis, Abnormal aortic morphology ORPHA:217085
Mucopolysaccharidosis Type 2
Peripheral arterial stenosis, Abnormal aortic morphology ORPHA:580
Mucopolysaccharidosis Type 2, Attenuated Form
Peripheral arterial stenosis, Abnormal aortic morphology ORPHA:217093
Meckel Syndrome, Type 1
Webbed neck, Coarctation of aorta, Vascular dilatation, Patent ductus arteriosus OMIM:249000
Diamond-Blackfan Anemia
Webbed neck, Coarctation of aorta, Radial artery aplasia ORPHA:124
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Aortic rupture, Patent ductus arteriosus OMIM:614557
Mycophenolate Mofetil Embryopathy
Coarctation of aorta ORPHA:268249
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Marfan Syndrome
Pulmonary artery dilatation, Aortic root aneurysm, Aortic dissection, Ascending tubular aorta ane... OMIM:154700
Turner Syndrome Due To Structural X Chromosome Anomalies
Arterial dissection, Webbed neck, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angio... ORPHA:99413
Turner Syndrome
Arterial dissection, Webbed neck, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angio... ORPHA:881
Mosaic Monosomy X
Arterial dissection, Webbed neck, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angio... ORPHA:99228
Monosomy X
Arterial dissection, Webbed neck, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angio... ORPHA:99226
Vascular Ehlers-Danlos Syndrome
Arterial dissection, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric v... ORPHA:286
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Pulmonary artery atresia, Coarctation of aorta, Double outlet right ventricle, Patent ductus arte... OMIM:618164
Rubinstein-Taybi Syndrome 1
Aortic isthmus hypoplasia, Persistent left superior vena cava, Coarctation of aorta, Patent ductu... OMIM:180849
Esophageal Atresia
Tetralogy of Fallot, Coarctation of aorta ORPHA:1199
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Coarctation of aorta OMIM:620066
Osteogenesis Imperfecta
Arterial dissection, Aortic root aneurysm, Aortic dissection, Aortic aneurysm, Cerebral hemorrhage ORPHA:666
45,X/46,Xy Mixed Gonadal Dysgenesis
Webbed neck, Coarctation of aorta ORPHA:1772
Diamond-Blackfan Anemia 1
Webbed neck, Coarctation of aorta OMIM:105650
Autosomal Dominant Cutis Laxa
Peripheral pulmonary artery stenosis, Dilatation of the ventricular cavity, Coarctation of aorta,... ORPHA:90348
Blomstrand Lethal Chondrodysplasia
Coarctation of aorta ORPHA:50945
Smith-Lemli-Opitz Syndrome
Coarctation of aorta, Eczematoid dermatitis, Patent ductus arteriosus OMIM:270400
Generalized Arterial Calcification Of Infancy
Aortic dissection, Arterial calcification, Medial calcification of large arteries, Transient isch... ORPHA:51608
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Pulmonary artery stenosis, Coarctation of aort... ORPHA:99125
Myhre Syndrome
Coarctation of aorta, Patent ductus arteriosus OMIM:139210
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Coarctation of aorta, Transposition of the great arteries, Patent ductus arte... OMIM:612474
17Q11 Microdeletion Syndrome
Webbed neck, Dilatation of the cerebral artery, Abnormal internal carotid artery morphology, Rena... ORPHA:97685
Kabuki Syndrome
Coarctation of aorta ORPHA:2322
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Tetralogy of Fallot, Coarctation of aorta OMIM:618748
Catel-Manzke Syndrome
Overriding aorta, Coarctation of aorta OMIM:616145
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased circulating iron concentration, Dystonia, Exaggerated startle response ORPHA:438213
8Q24.3 Microdeletion Syndrome
Hypoplastic aortic arch, Coarctation of aorta, Patent ductus arteriosus, Truncus arteriosus ORPHA:508488
Fibromuscular Dysplasia, Multifocal
Pulmonary artery aneurysm, Celiac artery dissection, Tortuous cerebral arteries, Dilatation of th... OMIM:619329
Robinow Syndrome
Coarctation of aorta ORPHA:97360
Floating-Harbor Syndrome
Atopic dermatitis, Persistent left superior vena cava, Coarctation of aorta OMIM:136140
Noonan Syndrome 1
Webbed neck, Coarctation of aorta, Patent ductus arteriosus OMIM:163950
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Coarctation of aorta, Patent ductus arteriosus OMIM:619480
Mullegama-Klein-Martinez Syndrome
Coarctation of aorta OMIM:301022
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Coarctation of aorta, Patent ductus arteriosus, Vascular ring ORPHA:353281
Ctcf-Related Neurodevelopmental Disorder
Coarctation of aorta, Patent ductus arteriosus ORPHA:363611
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Tetralogy of Fallot, Coarctation of aorta OMIM:210710
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Coarctation of aorta, Patent ductus arteriosus, Vascular ring, Abnormal subclavian artery morphology ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Coarctation of aorta, Patent ductus arteriosus, Vascular ring, Abnormal subclavian artery morphology ORPHA:353277
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Coarctation of aorta, Patent ductus arteriosus OMIM:617088
Floating-Harbor Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Coarctation of aorta ORPHA:2044
Femoral-Facial Syndrome
Coarctation of aorta, Patent ductus arteriosus, Truncus arteriosus OMIM:134780
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Coarctation of aorta, Bilateral superior vena cava OMIM:220111
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Kabuki Syndrome 1
Coarctation of aorta OMIM:147920
Pallister-Hall Syndrome
Coarctation of aorta, Patent ductus arteriosus ORPHA:672
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Tetralogy of Fallot, Pulmonary artery sling, Coarctation of aorta, Abnormality of the pulmonary a... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Tetralogy of Fallot, Abnormality of the pulmonary artery, Pulmonary artery sling, Coarctation of ... ORPHA:261552
Mowat-Wilson Syndrome
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus, Pulmonary artery sling ORPHA:2152
Pallister-Killian Syndrome
Webbed neck, Coarctation of aorta, Patent ductus arteriosus OMIM:601803
Craniofacial Microsomia 1
Tetralogy of Fallot, Coarctation of aorta, Right aortic arch, Patent ductus arteriosus OMIM:164210
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm OMIM:130000
Classical Ehlers-Danlos Syndrome
Dilatation of the cerebral artery, Arterial dissection, Aortic root aneurysm, Arteriovenous fistula ORPHA:287

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Col5a1

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 Col5a1.

No publications found that use IMPC mice or data for Col5a1.

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
Col5a1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Col5a1tm26464(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Col5a1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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