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
increased circulating cholesterol level Col5a1tm1a(EUCOMM)Hmgu HET   Early adult 3.74×10-05
decreased blood urea nitrogen level Col5a1tm1a(EUCOMM)Hmgu HET Early adult 9.93×10-05
increased startle reflex Col5a1tm1a(EUCOMM)Hmgu HET Early adult 7.36×10-05
abnormal behavior Col5a1tm1a(EUCOMM)Hmgu HET Early adult 2.83×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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
Vertebral artery tortuosity, Arterial fibromuscular dysplasia, Carotid artery tortuosity, Pulmona... OMIM:619329
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm OMIM:130000
Classical Ehlers-Danlos Syndrome
Arteriovenous fistula, Dilatation of the cerebral artery, Arterial dissection, Aortic root aneurysm 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
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... OMIM:615703
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Patent ductus arteriosus, Posterior cerebral artery stenosis, Corona... OMIM:132900
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:229
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Abnormal aortic morphology, Aorto-ventricular tunnel, Aortic... ORPHA:3400
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Tricuspid Atresia
Pulmonary artery atresia, Transposition of the great arteries, Persistent left superior vena cava... ORPHA:1209
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Tremor, Hypoalbuminemia OMIM:208920
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Postural tremor, Head tremor, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta OMIM:615779
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Transposition of the great arteries, Coarctation of... OMIM:612474
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Eczematoid dermatitis, Aortic dissection, Mucoid extracellular matrix accumulation, Aortic aneurysm OMIM:130090
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonary artery atresia, Tetralogy of Fa... OMIM:618780
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta OMIM:614823
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Tremor, Acute hyperammonemia, Hypertriglyceridemia, Hypoal... ORPHA:247585
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Aortic tortuosity, Ascending aortic dissection OMIM:616166
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Transposition of the great arteries, Coarctati... OMIM:217095
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Webbed neck, Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
Laron Syndrome
Hypercholesterolemia ORPHA:633
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Double outlet right ventricle, Coarctation of aorta, Pulmonary arter... OMIM:613854
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Cerebral berry aneurysm, Atherosclerosis, Aortic root aneur... ORPHA:231160
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aortic morphology ORPHA:1166
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hypercholesterolemia, Lactescent serum, Hyperlip... OMIM:238600
Periventricular Nodular Heterotopia
Thin skin, Patent ductus arteriosus, Aortic aneurysm ORPHA:98892
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Patent ductus arteriosus, Aortic arch aneurysm ORPHA:1455
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Abnormal common carotid artery morphol... ORPHA:449400
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta ORPHA:261243
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... OMIM:278000
Galactokinase Deficiency
Hypercholesterolemia, Increased level of galactitol in plasma, Hypergalactosemia ORPHA:79237
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration ORPHA:209902
Mass Syndrome
Aortic aneurysm OMIM:604308
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050
Sitosterolemia 1
Hypercholesterolemia, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration OMIM:210250
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... ORPHA:412
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:91387
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Patent ductus arteriosus, Coarctation of aorta OMIM:618164
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology ORPHA:3222
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta ORPHA:1923
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent ductus arteriosus, Coarct... OMIM:610338
Diabetic Embryopathy
Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aortic morphology, Transpositi... ORPHA:1926
Noonan Syndrome 9
Webbed neck, Coarctation of aorta OMIM:616559
Mental Retardation, Autosomal Dominant 21
Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:370
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Aortic aneurysm OMIM:614980
Hypermethioninemia Due To Adenosine Kinase Deficiency
Coarctation of aorta OMIM:614300
Myofibrillar Myopathy 11
Coarctation of aorta OMIM:619178
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Septopreoptic Holoprosencephaly
Coarctation of aorta ORPHA:280195
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Coarctation of aorta OMIM:613426
Phace Association
Arterial stenosis, Patent ductus arteriosus, Vascular dilatation, Coarctation of aorta, Anomalous... OMIM:606519
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:2001
Transaldolase Deficiency
Coarctation of aorta ORPHA:101028
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Hyperglyci... ORPHA:470
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:151660
Multisystemic Smooth Muscle Dysfunction Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Vascular dilatation, Thoracic aortic aneury... OMIM:613834
8P23.1 Microdeletion Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Pulmonary artery stenosis, Tetralogy of Fal... ORPHA:251071
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Double Outlet Right Ventricle
Truncus arteriosus, Double outlet right ventricle, Coarctation of aorta, Pulmonary artery atresia... ORPHA:3426
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Anomalous pulmonary venous re... ORPHA:185
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Mullegama-Klein-Martinez Syndrome
Coarctation of aorta OMIM:301022
Loeys-Dietz Syndrome 4
Arterial tortuosity, Aortic tortuosity, Aortic root aneurysm, Aortic dissection, Ascending tubula... OMIM:614816
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta ORPHA:2876
Catel-Manzke Syndrome
Overriding aorta, Coarctation of aorta OMIM:616145
Cleft Palate, Cardiac Defects, And Mental Retardation
Coarctation of aorta OMIM:600987
Holt-Oram Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Abnormal aortic morphology ORPHA:392
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Coarctation of aorta ORPHA:284169
Buschke-Ollendorff Syndrome
Abnormal aortic morphology ORPHA:1306
Hardikar Syndrome
Pruritus, Patent ductus arteriosus, Pulmonary artery stenosis, Coarctation of aorta OMIM:612726
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Hyponatremia, Steatorrhea, Hypertriglyceridemia, Hyperkalemia ORPHA:275761
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Arterial Tortuosity Syndrome
Abnormal carotid artery morphology, Aortic aneurysm, Thin skin, Vascular dilatation, Pulmonary ar... ORPHA:3342
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Patent ductus arteriosus, Double outlet right ventricle, Coarc... ORPHA:1330
2Q37 Microdeletion Syndrome
Eczema, Abnormal aortic morphology ORPHA:1001
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Coarctation of aorta OMIM:614857
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta OMIM:217085
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia, Hyperlipidemia ORPHA:79259
Loeys-Dietz Syndrome
Arterial tortuosity, Thin skin, Patent ductus arteriosus, Arterial dissection, Vascular dilatatio... ORPHA:60030
Congenital Heart Defects And Skeletal Malformations Syndrome
Thin skin, Coarctation of aorta OMIM:617602
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Right Atrial Isomerism
Aortopulmonary collateral arteries, Pulmonary artery atresia, Tetralogy of Fallot, Total anomalou... OMIM:208530
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta ORPHA:261183
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Coarctation of aorta ORPHA:1120
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Familial Bicuspid Aortic Valve
Thoracic aorta calcification, Aortic arch aneurysm, Ascending aortic dissection, Coarctation of a... ORPHA:402075
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Hyponatremia, Hyperaldosteronism, Hypokalemia ORPHA:534
Osteogenesis Imperfecta, Type I
Thin skin, Aortic aneurysm OMIM:166200
Transaldolase Deficiency
Patent ductus arteriosus, Coarctation of aorta OMIM:606003
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response ORPHA:309246
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Truncus arteriosus, Patent ductus arteriosus, Coar... OMIM:601186
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Varicose veins, Vascular dilatation OMIM:618343
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Vascular dilatation, Abnormal venous morphology, Aortic dissection, Aortic a... ORPHA:1900
Giant Cell Arteritis
Aortic dissection, Double outlet right ventricle with subpulmonary ventricular septal defect with... ORPHA:397
Fryns Syndrome
Abnormal aortic arch morphology, Tetralogy of Fallot, Abnormal aortic morphology ORPHA:2059
Meacham Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Coarctation of aorta, Tetralogy of F... ORPHA:3097
Loeys-Dietz Syndrome 2
Descending thoracic aorta aneurysm, Carotid artery dilatation, Arterial tortuosity, Generalized a... OMIM:610168
Kleefstra Syndrome Due To 9Q34 Microdeletion
Conotruncal defect, Tetralogy of Fallot, Coarctation of aorta ORPHA:96147
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Coarctation of aorta OMIM:617159
Arterial Tortuosity Syndrome
Generalized arterial tortuosity, Aortic tortuosity, Pulmonary artery stenosis OMIM:208050
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Lowry-Maclean Syndrome
Coarctation of aorta ORPHA:2409
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Cerebral arteriovenous malformation, Hepatic arteriovenous malformation, Aortic dissection, Pulmo... OMIM:175050
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Thin skin, Webbed neck, Patent ductus arteriosus, Peripheral pulmonary artery stenosis, Coarctati... OMIM:617506
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Coarctation of aorta OMIM:618929
Noonan Syndrome 10
Webbed neck, Patent ductus arteriosus, Coarctation of aorta OMIM:616564
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Coarctation of aorta ORPHA:371428
Kleefstra Syndrome
Tetralogy of Fallot, Pulmonary artery stenosis, Coarctation of aorta ORPHA:261494
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent ductus arteriosus, Coarctation of aorta OMIM:618454
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Patent ductus arteriosus, Coarctation of aorta OMIM:600460
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response OMIM:608643
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Coarctation of aorta OMIM:300514
Osteopathia Striata-Cranial Sclerosis Syndrome
Coarctation of aorta ORPHA:2780
Tay-Sachs Disease
Tremor, Exaggerated startle response, Increased serum beta-hexosaminidase ORPHA:845
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Exaggerated startle response OMIM:253800
Encephalocraniocutaneous Lipomatosis
Abnormal aortic morphology, Interrupted aortic arch, Coarctation of aorta ORPHA:2396
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Dilatation of the cerebral artery, Aortic dissection OMIM:300989
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Alport Syndrome
Abnormal aortic morphology, Aortic aneurysm ORPHA:63
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Phace Syndrome
Abnormal carotid artery morphology, Cerebral arteriovenous malformation, Aortic root aneurysm, Ab... ORPHA:42775
Kaufman Oculocerebrofacial Syndrome
Thin skin, Coarctation of aorta OMIM:244450
Mosaic Trisomy 1
Pulmonary artery atresia, Coarctation of aorta ORPHA:1692
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response ORPHA:438216
Marfan Syndrome
Aortic tortuosity, Dilatation of an abdominal artery, Arterial dissection, Descending aortic diss... ORPHA:558
Acrocardiofacial Syndrome
Tetralogy of Fallot, Truncus arteriosus, Coarctation of aorta ORPHA:2008
Fg Syndrome Type 1
Coarctation of aorta ORPHA:93932
Sandhoff Disease
Exaggerated startle response OMIM:268800
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotein, Bicarbonaturia, Elevated materna... OMIM:309000
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Coarctation of aorta OMIM:617260
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Patent ductus arteriosus, Aortic rupture OMIM:614557
Loeys-Dietz Syndrome 3
Arterial tortuosity, Aortic tortuosity, Aortic aneurysm, Patent ductus arteriosus, Dilatation of ... OMIM:613795
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperlipidemia ORPHA:391665
Kabuki Syndrome 2
Coarctation of aorta OMIM:300867
Holoprosencephaly
Tetralogy of Fallot, Abnormal aortic morphology ORPHA:2162
Maternal Phenylketonuria
Tetralogy of Fallot, Double outlet right ventricle, Coarctation of aorta ORPHA:2209
Noonan Syndrome 2
Patent ductus arteriosus, Abnormal coronary artery origin, Coarctation of aorta OMIM:605275
Mosaic Variegated Aneuploidy Syndrome
Abnormal aortic morphology, Coarctation of aorta ORPHA:1052
Fanconi Anemia
Abnormal carotid artery morphology, Abnormal aortic morphology, Patent ductus arteriosus, Arterio... ORPHA:84
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Jacobsen Syndrome
Webbed neck, Eczema, Coarctation of aorta ORPHA:2308
Pseudotrisomy 13 Syndrome
Coarctation of aorta OMIM:264480
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Pagod Syndrome
Abnormality of the pulmonary artery, Abnormal aortic morphology, Pulmonary artery hypoplasia ORPHA:991
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response ORPHA:521426
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Seborrheic dermatitis, Coarctation of aorta OMIM:274000
Mosaic Variegated Aneuploidy Syndrome 2
Coarctation of aorta OMIM:614114
Igg4-Related Kidney Disease
Abnormal aortic morphology, Arteritis, Inflammatory abnormality of the skin ORPHA:449395
Aneurysm-Osteoarthritis Syndrome
Arterial tortuosity, Patent ductus arteriosus, Dilatation of the sinus of Valsalva, Vascular dila... ORPHA:284984
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Interrupted aortic arch, Patent ductus arteriosus, Hypoplast... OMIM:265380
Meckel Syndrome, Type 1
Webbed neck, Patent ductus arteriosus, Vascular dilatation, Coarctation of aorta OMIM:249000
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Interrupted aortic arch, Coarctation of aorta ORPHA:17
Hemifacial Microsomia
Tetralogy of Fallot, Patent ductus arteriosus, Coarctation of aorta OMIM:164210
Opitz Gbbb Syndrome
Persistent left superior vena cava, Coarctation of aorta, Patent ductus arteriosus, Aortic root a... ORPHA:2745
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Tetralogy of Fallot, Truncus arteriosus, Coarctation of aorta ORPHA:508498
Autosomal Recessive Robinow Syndrome
Tetralogy of Fallot, Abnormal aortic morphology ORPHA:1507
Mucopolysaccharidosis Type 2
Abnormal aortic morphology, Peripheral arterial stenosis ORPHA:580
Mosaic Trisomy 16
Single coronary artery origin, Patent ductus arteriosus, Coarctation of aorta ORPHA:1708
Oculoectodermal Syndrome
Patent ductus arteriosus, Coarctation of aorta OMIM:600268
Mucopolysaccharidosis Type 2, Severe Form
Abnormal aortic morphology, Peripheral arterial stenosis ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal aortic morphology, Peripheral arterial stenosis ORPHA:217093
Mycophenolate Mofetil Embryopathy
Coarctation of aorta ORPHA:268249
Diamond-Blackfan Anemia 1
Webbed neck, Coarctation of aorta OMIM:105650
Blackfan-Diamond Anemia
Webbed neck, Radial artery aplasia, Coarctation of aorta ORPHA:124
Marfan Syndrome
Aortic dissection, Ascending tubular aorta aneurysm, Pulmonary artery dilatation, Aortic root ane... OMIM:154700
Vascular Ehlers-Danlos Syndrome
Arteriovenous fistula, Arterial stenosis, Thin skin, Vascular dilatation, Arterial dissection, Pu... ORPHA:286
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Patent ductus arteriosus, Coarctation of aorta OMIM:617088
Opitz Gbbb Syndrome, Type Ii
Patent ductus arteriosus, Coarctation of aorta OMIM:145410
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Patent ductus arteriosus, Hypoplastic aortic... ORPHA:99125
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Tetralogy of Fallot, Coarctation of aorta OMIM:618748
Smith-Lemli-Opitz Syndrome
Eczema, Patent ductus arteriosus, Coarctation of aorta OMIM:270400
Osteogenesis Imperfecta
Aortic dissection, Aortic aneurysm, Arterial dissection, Aortic root aneurysm ORPHA:666
Blomstrand Lethal Chondrodysplasia
Coarctation of aorta ORPHA:50945
Distal Monosomy 15Q
Abnormal aortic arch morphology, Coarctation of aorta, Patent ductus arteriosus, Double outlet ri... ORPHA:1596
Turner Syndrome Due To Structural X Chromosome Anomalies
Webbed neck, Arterial dissection, Coarctation of aorta, Aortic dissection, Aortic arch aneurysm ORPHA:99413
Turner Syndrome
Webbed neck, Arterial dissection, Coarctation of aorta, Aortic dissection, Aortic arch aneurysm ORPHA:881
Mosaic Monosomy X
Webbed neck, Arterial dissection, Coarctation of aorta, Aortic dissection, Aortic arch aneurysm ORPHA:99228
Monosomy X
Webbed neck, Arterial dissection, Coarctation of aorta, Aortic dissection, Aortic arch aneurysm ORPHA:99226
45,X/46,Xy Mixed Gonadal Dysgenesis
Webbed neck, Coarctation of aorta ORPHA:1772
Esophageal Atresia
Tetralogy of Fallot, Coarctation of aorta ORPHA:1199
Myhre Syndrome
Patent ductus arteriosus, Coarctation of aorta OMIM:139210
Cocaine Intoxication
Aortic dissection ORPHA:90068
Kabuki Syndrome
Coarctation of aorta ORPHA:2322
17Q11 Microdeletion Syndrome
Webbed neck, Cerebral artery stenosis, Dilatation of the cerebral artery, Coarctation of aorta, R... ORPHA:97685
Floating-Harbor Syndrome
Persistent left superior vena cava, Coarctation of aorta OMIM:136140
Noonan Syndrome 1
Webbed neck, Patent ductus arteriosus, Coarctation of aorta OMIM:163950
Fibromuscular Dysplasia, Multifocal
Vertebral artery tortuosity, Arterial fibromuscular dysplasia, Carotid artery tortuosity, Pulmona... OMIM:619329
Robinow Syndrome
Coarctation of aorta ORPHA:97360
Generalized Arterial Calcification Of Infancy
Abnormal retinal artery morphology, Calcification of the aorta, Medial calcification of medium-si... ORPHA:51608
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Tetralogy of Fallot, Coarctation of aorta OMIM:210710
Ctcf-Related Neurodevelopmental Disorder
Patent ductus arteriosus, Coarctation of aorta ORPHA:363611
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Patent ductus arteriosus, Vascular ring, Coarctation of aorta ORPHA:353281
Floating-Harbor Syndrome
Persistent left superior vena cava, Tetralogy of Fallot, Coarctation of aorta ORPHA:2044
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal subclavian artery morphology, Patent ductus arteriosus, Vascular ring, Coarctation of aorta ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal subclavian artery morphology, Patent ductus arteriosus, Vascular ring, Coarctation of aorta ORPHA:353277
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron, Exaggerated startle response ORPHA:438213
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm OMIM:130000
Pallister-Hall Syndrome
Patent ductus arteriosus, Coarctation of aorta ORPHA:672
8Q24.3 Microdeletion Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Truncus arteriosus, Coarctation of aorta ORPHA:508488
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormality of the pulmonary artery, Pulmonary artery sling, Tetralogy of Fallot, Coarctation of ... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Pulmonary artery sling, Patent ductus arteriosus, Coarctation of aorta, Abnormality of the pulmon... ORPHA:261552
Mowat-Wilson Syndrome
Pulmonary artery sling, Tetralogy of Fallot, Patent ductus arteriosus, Coarctation of aorta ORPHA:2152
Pallister-Killian Syndrome
Webbed neck, Patent ductus arteriosus, Coarctation of aorta OMIM:601803
Kabuki Syndrome 1
Coarctation of aorta OMIM:147920
Classical Ehlers-Danlos Syndrome
Arteriovenous fistula, Dilatation of the cerebral artery, Arterial dissection, Aortic root aneurysm 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.

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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) Targeting vectors

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