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
increased startle reflex Col5a1tm1a(EUCOMM)Hmgu HET Early adult 5.88×10-05
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
Select physiological systems to view:
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
Carotid artery tortuosity, Pulmonary artery aneurysm, Tortuous cerebral arteries, Dilatation of t... OMIM:619329
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm OMIM:130000
Classical Ehlers-Danlos Syndrome
Dilatation of the cerebral artery, Arteriovenous fistula, 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
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Descending aortic dissection, Coronary artery aneurysm, Ascending aort... OMIM:615436
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Thoracic aortic aneurysm, Descending aortic dissection, Aortic aneurysm, Asc... OMIM:611788
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Thoracic aortic aneurysm, Patent ductus arteriosus, Descendin... OMIM:132900
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Aortic root aneurysm, Descend... ORPHA:229
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Aorto-Ventricular Tunnel
Abnormal aortic morphology, Aorto-ventricular tunnel, Abnormal coronary artery morphology, Aortic... ORPHA:3400
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Dystonia, Hypercholesterolemia, Head tremor, Elevated circulating cre... ORPHA:64753
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Dystonia, Hypoalbuminemia, Tremor OMIM:208920
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... OMIM:207750
Tricuspid Atresia
Persistent left superior vena cava, Pulmonary artery atresia, Coarctation of aorta, Transposition... ORPHA:1209
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta OMIM:615779
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Coarctation of aorta, Transposition of the great arteries, Patent ductus arteriosus, Truncus arte... OMIM:612474
Morgagni-Stewart-Morel Syndrome
Action tremor, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Right aortic arch, Pulmonary artery atresia, Double aortic arch, Aortopulmon... OMIM:618780
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic aneurysm, Mucoid extracellular matrix accumulation, Eczematoid dermatitis, Aortic dissection OMIM:130090
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Tremor, Acute ... ORPHA:247585
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta OMIM:614823
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Congenital Heart Defects, Multiple Types, 6
Tetralogy of Fallot, Total anomalous pulmonary venous return, Double outlet right ventricle, Coar... OMIM:613854
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm OMIM:616166
Conotruncal Heart Malformations
Double outlet right ventricle, Transposition of the great arteries, Coarctation of aorta, Truncus... OMIM:217095
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent serum, Hypercholester... OMIM:238600
Laron Syndrome
Hypercholesterolemia ORPHA:633
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Webbed neck, Truncus arteriosus ORPHA:2516
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Abnormal circle of Willis morphology, Aortic dissection, Atherosclerosis, C... ORPHA:231160
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus OMIM:601612
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Tetralogy of Fallot, Abnormality of the pulmonary artery ORPHA:1166
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Coarctation of aorta, Transposition of the great arteries ORPHA:261243
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia ORPHA:79237
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Dilated left subclavian artery, Aortic... ORPHA:449400
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus ORPHA:1455
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LD... OMIM:278000
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration,... ORPHA:412
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Tetralogy of Fallot, Abnormal ao... ORPHA:99050
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Hypercholesterolemia, Increased serum bile acid concentration, Conjug... OMIM:619662
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal aortic arch morphology, Patent ductus arteriosus, Dextrotransposition of the great arter... ORPHA:860
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:210250
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:2457
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Coarctation of aorta, Patent ductus arteriosus, Double outlet right ventricle OMIM:618164
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Mucoid extracellular matrix accumulation, Abdominal aortic aneurysm, Patent ductus arteriosus, Ao... ORPHA:91387
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology ORPHA:3222
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta ORPHA:1923
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Noonan Syndrome 9
Webbed neck, Coarctation of aorta OMIM:616559
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:79240
Intellectual Developmental Disorder, Autosomal Dominant 21
Coarctation of aorta, Patent ductus arteriosus OMIM:615502
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:370
Diabetic Embryopathy
Abnormal aortic morphology, Tetralogy of Fallot, Abnormality of the pulmonary artery, Transpositi... ORPHA:1926
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Coarctation of aorta, Patent duc... OMIM:610338
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:264580
Hypermethioninemia Due To Adenosine Kinase Deficiency
Coarctation of aorta OMIM:614300
Scimitar Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Pulmonary artery hypoplasia, Descending aorta hypo... ORPHA:185
Myofibrillar Myopathy 11
Coarctation of aorta OMIM:619178
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Phace Association
Patent ductus arteriosus, Coarctation of aorta, Aortic aneurysm, Anomalous branches of internal c... OMIM:606519
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Septopreoptic Holoprosencephaly
Coarctation of aorta ORPHA:280195
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:2001
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperprolinemia, Elevated pla... ORPHA:470
Transaldolase Deficiency
Coarctation of aorta ORPHA:101028
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Hypercholesterolemia ORPHA:90674
Heterotaxy, Visceral, 12, Autosomal
Patent ductus arteriosus, Single coronary artery origin, Dextrotransposition of the great arterie... OMIM:619702
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:151660
Holt-Oram Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:392
8P23.1 Microdeletion Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Pulmonary artery stenosis, Transposition of the gr... ORPHA:251071
Multisystemic Smooth Muscle Dysfunction Syndrome
Thoracic aortic aneurysm, Patent ductus arteriosus, Dilatation of the cerebral artery, Abnormal a... OMIM:613834
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Hyperuricemia, Hypertriglyceridemia, Hyp... ORPHA:90041
Mullegama-Klein-Martinez Syndrome
Coarctation of aorta OMIM:301022
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypercholesterolemia, Hyperkalemia, Xanthelasma, Hypertriglyceridemia, Steatorrhea ORPHA:275761
Double Outlet Right Ventricle
Tetralogy of Fallot, Coarctation of aorta, Double outlet right ventricle, Pulmonary artery atresi... ORPHA:3426
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Coarctation of aorta, Patent ductus arteriosus ORPHA:284169
Cleft Palate, Cardiac Defects, And Mental Retardation
Coarctation of aorta OMIM:600987
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Ascending tubular aorta aneurysm, A... OMIM:614816
Catel-Manzke Syndrome
Overriding aorta, Coarctation of aorta OMIM:616145
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Phaver Syndrome
Hypoplastic aortic arch, Pulmonary artery atresia, Coarctation of aorta ORPHA:2876
Buschke-Ollendorff Syndrome
Abnormal aortic morphology ORPHA:1306
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Patent ductus arteriosus, Coarctation of aorta, Double outlet right ventricl... ORPHA:1330
Arterial Tortuosity Syndrome
Aortic root aneurysm, Aortic dissection, Aortic aneurysm, Arterial stenosis, Pulmonary artery ste... ORPHA:3342
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta OMIM:217085
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta ORPHA:261183
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Coarctation of aorta OMIM:614857
2Q37 Microdeletion Syndrome
Eczema, Abnormal aortic morphology ORPHA:1001
Right Atrial Isomerism
Tetralogy of Fallot, Total anomalous pulmonary venous return, Pulmonary artery atresia, Transposi... OMIM:208530
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hypercholesterolemia, Hyperuricemia, Xanthelasma, Hypertriglyceridemia ORPHA:79259
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Scimitar anomaly, Partial anomalous pulmonary veno... OMIM:608978
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:1120
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Congenital Heart Defects And Skeletal Malformations Syndrome
Thin skin, Coarctation of aorta OMIM:617602
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Loeys-Dietz Syndrome
Patent ductus arteriosus, Aortic dissection, Arterial dissection, Aortic aneurysm, Arterial tortu... ORPHA:60030
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Patent ductus arteriosus, Coarctation of aorta, Anomalous branches o... ORPHA:363705
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Cardiac Diverticulum
Tetralogy of Fallot, Patent ductus arteriosus, Pulmonary artery hypoplasia, Partial anomalous pul... ORPHA:1686
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypercholesterolemia, Hypoammonemia, Hyperaldosteronism, Hypophosphatemia ORPHA:534
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Ascending aortic dissection, Thoracic aorta calcification, Coarctation of a... ORPHA:402075
Microphthalmia, Syndromic 9
Tetralogy of Fallot, Patent ductus arteriosus, Coarctation of aorta, Pulmonary artery atresia, Tr... OMIM:601186
Transaldolase Deficiency
Coarctation of aorta, Patent ductus arteriosus OMIM:606003
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Vascular dilatation, Varicose veins, Aortic dissection OMIM:618343
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Aortic root aneurysm, ... OMIM:610168
Fryns Syndrome
Abnormal aortic morphology, Tetralogy of Fallot, Abnormal aortic arch morphology ORPHA:2059
Tay-Sachs Disease
Dystonia, Increased serum beta-hexosaminidase, Laryngeal dystonia, Exaggerated startle response, ... ORPHA:845
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Abnormal venous morphology, Aortic dissection, Arterial dissection, Aortic aneurysm, Vascular dil... ORPHA:1900
Fixed Subaortic Stenosis
Ascending tubular aorta aneurysm, Coarctation of aorta, Patent ductus arteriosus ORPHA:3092
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Webbed neck, Patent ductus arteriosus, Aortic root aneurysm, Peripheral pulmonary artery stenosis... OMIM:617506
Arterial Tortuosity Syndrome
Aortic tortuosity, Generalized arterial tortuosity, Pulmonary artery stenosis OMIM:208050
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Conotruncal defect, Coarctation of aorta, Transpos... ORPHA:3097
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Kleefstra Syndrome Due To 9Q34 Microdeletion
Tetralogy of Fallot, Coarctation of aorta, Conotruncal defect ORPHA:96147
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Coarctation of aorta OMIM:617159
Lowe Oculocerebrorenal Syndrome
Elevated maternal serum alpha-fetoprotein, Hypercholesterolemia, Elevated amniotic fluid alpha-fe... OMIM:309000
Lowry-Maclean Syndrome
Coarctation of aorta ORPHA:2409
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Cerebral arteriovenous malformation, Aortic dissection, Hepatic arteriovenous malformation, Aorti... OMIM:175050
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Coarctation of aorta OMIM:618929
Noonan Syndrome 10
Webbed neck, Coarctation of aorta, Patent ductus arteriosus OMIM:616564
Alport Syndrome
Abnormal aortic morphology, Aortic aneurysm, Renal glomerular foam cells ORPHA:63
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Patent ductus arteriosus, Coarctation of aorta, Abnormal inferior vena cava ... ORPHA:980
Fanconi Anemia, Complementation Group B
Coarctation of aorta, Patent ductus arteriosus OMIM:300514
Kleefstra Syndrome
Tetralogy of Fallot, Pulmonary artery stenosis, Coarctation of aorta ORPHA:261494
Developmental Delay With Or Without Dysmorphic Facies And Autism
Coarctation of aorta, Patent ductus arteriosus OMIM:618454
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Coarctation of aorta, Double outlet right ventricle ORPHA:371428
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Exaggerated startle response OMIM:253800
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aorta OMIM:600460
Meester-Loeys Syndrome
Dilatation of the cerebral artery, Pulmonary artery aneurysm, Aortic dissection OMIM:300989
Osteopathia Striata-Cranial Sclerosis Syndrome
Coarctation of aorta ORPHA:2780
Kaufman Oculocerebrofacial Syndrome
Thin skin, Coarctation of aorta OMIM:244450
Sandhoff Disease
Exaggerated startle response OMIM:268800
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Acrocardiofacial Syndrome
Tetralogy of Fallot, Coarctation of aorta, Truncus arteriosus ORPHA:2008
Encephalocraniocutaneous Lipomatosis
Abnormal aortic morphology, Interrupted aortic arch, Coarctation of aorta ORPHA:2396
Phace Syndrome
Tetralogy of Fallot, Aortic root aneurysm, Cerebral arteriovenous malformation, Coarctation of ao... ORPHA:42775
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Tetralogy of Fallot, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Pulmona... OMIM:265380
Mosaic Trisomy 1
Pulmonary artery atresia, Coarctation of aorta ORPHA:1692
Fg Syndrome Type 1
Coarctation of aorta ORPHA:93932
Marfan Syndrome
Descending aortic dissection, Pulmonary artery dilatation, Arterial dissection, Dilatation of an ... ORPHA:558
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Coarctation of aorta, Patent ductus arteriosus OMIM:617260
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Loeys-Dietz Syndrome 3
Ascending aortic dissection, Abdominal aortic aneurysm, Patent ductus arteriosus, Thoracic aortic... OMIM:613795
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Hyperlipidemia, Increased LDL cholesterol concentration ORPHA:391665
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Aortic rupture, Patent ductus arteriosus OMIM:614557
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype... OMIM:619534
Noonan Syndrome 2
Abnormal coronary artery origin, Coarctation of aorta, Patent ductus arteriosus OMIM:605275
Maternal Phenylketonuria
Tetralogy of Fallot, Double outlet right ventricle, Coarctation of aorta ORPHA:2209
Heterotaxy, Visceral, 1, X-Linked
Bilateral superior vena cava, Total anomalous pulmonary venous return, Patent ductus arteriosus, ... OMIM:306955
Holoprosencephaly
Abnormal aortic morphology, Tetralogy of Fallot ORPHA:2162
Kabuki Syndrome 2
Coarctation of aorta OMIM:300867
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Patent ductus arteriosus, Dextrotransposition of the gre... OMIM:270100
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Mosaic Variegated Aneuploidy Syndrome
Abnormal aortic morphology, Coarctation of aorta ORPHA:1052
Fanconi Anemia
Tetralogy of Fallot, Patent ductus arteriosus, Arteriovenous malformation, Abnormal aortic morpho... ORPHA:84
Mosaic Variegated Aneuploidy Syndrome 2
Coarctation of aorta OMIM:614114
Pseudotrisomy 13 Syndrome
Coarctation of aorta OMIM:264480
Jacobsen Syndrome
Eczema, Webbed neck, Coarctation of aorta ORPHA:2308
Pagod Syndrome
Abnormal aortic morphology, Abnormality of the pulmonary artery, Pulmonary artery hypoplasia ORPHA:991
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Seborrheic dermatitis, Coarctation of aorta OMIM:274000
Cardiomyopathy, Dilated, 1S
Coarctation of aorta, Pulmonary artery hypoplasia OMIM:613426
Congenital Disorder Of Glycosylation, Type It
Coarctation of aorta OMIM:614921
Aneurysm-Osteoarthritis Syndrome
Abdominal aortic aneurysm, Patent ductus arteriosus, Aortic dissection, Arterial dissection, Dila... ORPHA:284984
Viss Syndrome
Carotid artery tortuosity, Patent ductus arteriosus, Iliac artery aneurysm, Aortic root aneurysm,... OMIM:619472
Aortic Arch Interruption
Truncus arteriosus, Patent ductus arteriosus, Aortopulmonary window, Double outlet right ventricl... ORPHA:2299
Meckel Syndrome, Type 1
Webbed neck, Coarctation of aorta, Vascular dilatation, Patent ductus arteriosus OMIM:249000
Opitz Gbbb Syndrome
Coarctation of aorta, Persistent left superior vena cava, Patent ductus arteriosus, Aortic root a... ORPHA:2745
Autosomal Recessive Robinow Syndrome
Abnormal aortic morphology, Tetralogy of Fallot ORPHA:1507
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Coarctation of aorta, Interrupted aortic arch, Patent ductus arteriosus ORPHA:17
Igg4-Related Kidney Disease
Abnormal aortic morphology, Inflammatory abnormality of the skin, Arteritis ORPHA:449395
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Tetralogy of Fallot, Coarctation of aorta, Truncus arteriosus ORPHA:508498
Hardikar Syndrome
Pruritus, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Coarctation of aor... OMIM:301068
Oculoectodermal Syndrome
Coarctation of aorta, Patent ductus arteriosus OMIM:600268
Mucopolysaccharidosis Type 2
Abnormal aortic morphology, Peripheral arterial stenosis ORPHA:580
Mosaic Trisomy 16
Coarctation of aorta, Patent ductus arteriosus, Single coronary artery origin ORPHA:1708
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
Diamond-Blackfan Anemia 1
Webbed neck, Coarctation of aorta OMIM:105650
Blackfan-Diamond Anemia
Webbed neck, Radial artery aplasia, Coarctation of aorta ORPHA:124
Smith-Lemli-Opitz Syndrome
Eczema, Coarctation of aorta, Patent ductus arteriosus OMIM:270400
Mycophenolate Mofetil Embryopathy
Coarctation of aorta ORPHA:268249
Marfan Syndrome
Ascending tubular aorta aneurysm, Pulmonary artery dilatation, Aortic dissection, Aortic root ane... OMIM:154700
Opitz gbbb syndrome, type II
Coarctation of aorta, Patent ductus arteriosus OMIM:145410
Vascular Ehlers-Danlos Syndrome
Arteriovenous fistula, Peripheral arteriovenous fistula, Pulmonary artery aneurysm, Aortic dissec... ORPHA:286
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Coarctation of aorta, Patent ductus arteriosus OMIM:617088
Autosomal Dominant Cutis Laxa
Aortic aneurysm, Coarctation of aorta, Dilatation of the ventricular cavity, Peripheral pulmonary... ORPHA:90348
Distal Monosomy 15Q
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... ORPHA:1596
Congenital Total Pulmonary Venous Return Anomaly
Patent ductus arteriosus, Supracardiac total anomalous pulmonary venous connection, Mixed total a... ORPHA:99125
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Tetralogy of Fallot, Coarctation of aorta OMIM:618748
Esophageal Atresia
Tetralogy of Fallot, Coarctation of aorta ORPHA:1199
Osteogenesis Imperfecta
Aortic aneurysm, Aortic dissection, Aortic root aneurysm, Arterial dissection ORPHA:666
Cocaine Intoxication
Aortic dissection ORPHA:90068
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Webbed neck, Aortic dissection, Coarctation of aorta, Arterial dissection ORPHA:99413
Turner Syndrome
Aortic arch aneurysm, Webbed neck, Aortic dissection, Coarctation of aorta, Arterial dissection ORPHA:881
Mosaic Monosomy X
Aortic arch aneurysm, Webbed neck, Aortic dissection, Coarctation of aorta, Arterial dissection ORPHA:99228
Monosomy X
Aortic arch aneurysm, Webbed neck, Aortic dissection, Coarctation of aorta, Arterial dissection ORPHA:99226
45,X/46,Xy Mixed Gonadal Dysgenesis
Webbed neck, Coarctation of aorta ORPHA:1772
Blomstrand Lethal Chondrodysplasia
Coarctation of aorta ORPHA:50945
Myhre Syndrome
Coarctation of aorta, Patent ductus arteriosus OMIM:139210
Kabuki Syndrome
Coarctation of aorta ORPHA:2322
17Q11 Microdeletion Syndrome
Webbed neck, Abnormal internal carotid artery morphology, Coarctation of aorta, Dilatation of the... ORPHA:97685
Floating-Harbor Syndrome
Persistent left superior vena cava, Coarctation of aorta OMIM:136140
Fibromuscular Dysplasia, Multifocal
Carotid artery tortuosity, Pulmonary artery aneurysm, Tortuous cerebral arteries, Dilatation of t... OMIM:619329
Generalized Arterial Calcification Of Infancy
Abnormal retinal artery morphology, Medial calcification of large arteries, Aortic dissection, Co... ORPHA:51608
Noonan Syndrome 1
Webbed neck, Coarctation of aorta, Patent ductus arteriosus OMIM:163950
Robinow Syndrome
Coarctation of aorta ORPHA:97360
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Tetralogy of Fallot, Coarctation of aorta OMIM:210710
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Coarctation of aorta, Patent ductus arteriosus OMIM:619480
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron, Dystonia, Exaggerated startle response ORPHA:438213
Ctcf-Related Neurodevelopmental Disorder
Coarctation of aorta, Patent ductus arteriosus ORPHA:363611
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Vascular ring, Coarctation of aorta, Patent ductus arteriosus ORPHA:353281
Floating-Harbor Syndrome
Tetralogy of Fallot, Coarctation of aorta, Persistent left superior vena cava ORPHA:2044
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal subclavian artery morphology, Vascular ring, Coarctation of aorta, Patent ductus arteriosus ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal subclavian artery morphology, Vascular ring, Coarctation of aorta, Patent ductus arteriosus ORPHA:353277
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Pallister-Hall Syndrome
Coarctation of aorta, Patent ductus arteriosus ORPHA:672
8Q24.3 Microdeletion Syndrome
Hypoplastic aortic arch, Coarctation of aorta, Patent ductus arteriosus, Truncus arteriosus ORPHA:508488
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Pulmonary artery sling, Tetralogy of Fallot, Abnormality of the pulmonary artery, Coarctation of ... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Tetralogy of Fallot, Patent ductus arteriosus, Coarctation of aorta, Pulmonary artery sling, Abno... ORPHA:261552
Mowat-Wilson Syndrome
Pulmonary artery sling, Tetralogy of Fallot, Patent ductus arteriosus, Coarctation of aorta ORPHA:2152
Kabuki Syndrome 1
Coarctation of aorta OMIM:147920
Craniofacial Microsomia
Right aortic arch, Tetralogy of Fallot, Patent ductus arteriosus, Coarctation of aorta OMIM:164210
Pallister-Killian Syndrome
Webbed neck, Coarctation of aorta, Patent ductus arteriosus OMIM:601803
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm OMIM:130000
Classical Ehlers-Danlos Syndrome
Dilatation of the cerebral artery, Arteriovenous fistula, 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.

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.

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter