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Gene: Plod1 MGI:99907

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Gene Summary

Name:
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
Synonyms:
lysyl hydroxylase 1,  LH1,  2410042F05Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased grip strength Plod1tm1b(EUCOMM)Hmgu HOM Early adult 7.65×10-31
decreased prepulse inhibition Plod1tm1b(EUCOMM)Hmgu HOM Early adult 9.48×10-06

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Histopathology

Images

3 Images

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Eye Morphology

Images Ophthalmoscopy

4 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Human diseases caused by Plod1 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 Plod1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Congestive heart failure, Neonatal hypotonia, Vascular dilatation, Aortic aneurysm, Elbow flexion... ORPHA:1900
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Congestive heart failure, Gastrointestinal hemorrhage, Hypotonia, Arterial rupture OMIM:225400

The table below shows human diseases predicted to be associated to Plod1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fibromuscular Dysplasia, Arterial
Stroke, Aortic dissection, Intermittent claudication, Renovascular hypertension, Arterial fibromu... OMIM:135580
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, ... OMIM:132900
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:613780
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Ascending aortic dissection, Descending aortic dissection, Coronary a... OMIM:615436
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Ascending tubula... OMIM:611788
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Hypertension, Transient ischemic attack, Aortic dissection, Hemiparesis, Su... ORPHA:231160
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:617349
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Distal lower limb muscle weakness, Scapular winging, Clonus, Tendon rupture, Fiber type grouping,... OMIM:620080
Familial Cervical Artery Dissection
Stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Facial palsy, Recurrent cereb... ORPHA:36382
Acute Peripheral Arterial Occlusion
Myocardial infarction, Stroke, Supraventricular tachycardia, Abnormal capillary physiology, Limb ... ORPHA:90064
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Ascending aortic dissection, Aortic tortuosity, Thoracic aortic aneurysm OMIM:616166
Cerebral Cavernous Malformations 3
Paralysis, Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Mucoid extracellular matrix accumulation, Dilatation of the cerebral artery, Aor... ORPHA:91387
Aortic Valve Disease 3
Aortic root aneurysm, Ascending aortic dissection, Aortic valve stenosis OMIM:618496
Lethal Congenital Contracture Syndrome 7
Facial diplegia, Distal arthrogryposis, Skeletal muscle atrophy, Knee flexion contracture, Paraly... OMIM:616286
Aortic Valve Disease 2
Calcification of the aorta, Aortic regurgitation, Aortic aneurysm, Aortic tortuosity, Pulmonic st... OMIM:614823
Glut1 Deficiency Syndrome 1
Babinski sign, Paroxysmal dystonia, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreo... OMIM:606777
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis, Distal lower limb muscle weakness OMIM:608634
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort... ORPHA:449400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis, Distal lower limb muscle weakness OMIM:158590
Porphyria, Acute Hepatic
Paralysis, Hypotonia, Respiratory paralysis OMIM:612740
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Dystonia, Ataxia, Extrapyramidal dyskinesia... ORPHA:71277
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Vocal cord paralysis, Hand muscle weakness, Hand muscle atrophy, Weakness of f... OMIM:607641
Mass Syndrome
Ascending aortic dissection, Aortic aneurysm OMIM:604308
Hereditary Butyrylcholinesterase Deficiency
Paralysis, Congestive heart failure, Myocardial infarction ORPHA:132
Aortic Aneurysm, Familial Thoracic 12
Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic regurgitation, Ascending aortic di... OMIM:619825
Aorto-Ventricular Tunnel
Congestive heart failure, Aortic root aneurysm, Abnormal aortic morphology, Heart murmur, Aorto-v... ORPHA:3400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Tremor, Vocal cord paralysis, Distal amyotrophy OMIM:158580
Aortic Aneurysm, Familial Thoracic 10
Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,... OMIM:617168
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Congestive heart failure, Neonatal hypotonia, Vascular dilatation, Aortic aneurysm, Elbow flexion... ORPHA:1900
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Cardiomyopathy, Abnormal aortic morphology, Ataxia, Hypotonia, Arrhythmia ORPHA:3222
Arterial Tortuosity Syndrome
Abnormal carotid artery morphology, Myocarditis, Congestive heart failure, Vascular dilatation, A... ORPHA:3342
Primary Angiitis Of The Central Nervous System
Stroke, Transient ischemic attack, Paraparesis, Hemiparesis, Ataxia, Parkinsonism, Intracranial h... ORPHA:140989
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Giant Cell Arteritis
Vasculitis, Cerebral ischemia, Double outlet right ventricle with subpulmonary ventricular septal... ORPHA:397
Distal Duplication 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Snakebite Envenomation
Respiratory paralysis, Tachycardia, Stroke, Cerebral ischemia, Hypotension, Muscle fiber necrosis... ORPHA:449285
Lethal Congenital Contracture Syndrome 8
Distal amyotrophy, Facial diplegia, Vocal cord paralysis, Distal arthrogryposis, Flexion contract... OMIM:616287
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Aortic aneurysm, Telangiectasia, Stroke, Aortic dissection, E... OMIM:175050
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Lower-limb joint contracture, Skeletal muscle atrophy OMIM:613710
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Claw hand deformity OMIM:605285
Cocaine Intoxication
Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Tremor, Hypertension, Hypote... ORPHA:90068
Loeys-Dietz Syndrome 4
Arterial tortuosity, Torticollis, Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic ... OMIM:614816
Variegate Porphyria
Paralysis, Tachycardia OMIM:176200
Horner Syndrome, Congenital
Paralysis OMIM:143000
Familial Bicuspid Aortic Valve
Aortic regurgitation, Hypertension, Aortic arch aneurysm, Aortic valve stenosis, Coarctation of a... ORPHA:402075
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Limb muscle weakness, Skeletal muscle atrophy, Hypotonia, Generalized hypotonia, Paralysis OMIM:612300
Rabies
Vocal cord paresis, Cerebral palsy, Sudden cardiac death ORPHA:770
Congenital Heart Defects, Multiple Types, 4
Left ventricular outflow tract obstruction, Coarctation of aorta, Tetralogy of Fallot, Aortic val... OMIM:615779
Triose Phosphate-Isomerase Deficiency
Hypotonia, Diaphragmatic paralysis, Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Congenital Myopathy 15
Vocal cord paralysis, Camptodactyly, Tricuspid regurgitation, Increased variability in muscle fib... OMIM:620161
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Chorea, Spastic tetraparesis, Exaggerated startle response, Axial hypotonia, Dystonia... OMIM:272750
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis, Dystonia OMIM:300857
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Vascular dilatation, Camptodactyly, Aortic dissection, Pulmonic stenosis, Varicose veins OMIM:618343
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta OMIM:241550
Hypokalemic Periodic Paralysis
Respiratory paralysis, Periodic hypokalemic paresis, Increased intramyocellular lipid droplets, P... ORPHA:681
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis, Myopathy, Hypotonia OMIM:170400
Spinocerebellar Ataxia Type 3
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Vocal cord paralysis... ORPHA:98757
Marfan Syndrome
Congestive heart failure, Abnormal left ventricular function, Dilatation of an abdominal artery, ... ORPHA:558
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Parkinsonism OMIM:105500
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Babinski sign, Distal lower limb muscle weakness, Poor fine motor coordination, Vocal cord paraly... ORPHA:99947
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormal aortic arch morphology, Hypoplastic aort... ORPHA:860
Charcot-Marie-Tooth Disease Type 4A
Poor gross motor coordination, Poor fine motor coordination, Distal amyotrophy, Frequent falls, H... ORPHA:99948
Loeys-Dietz Syndrome
Vascular dilatation, Arterial tortuosity, Aortic aneurysm, Cardiac arrest, Arterial dissection, A... ORPHA:60030
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Pulmonary artery aneurysm, Dilatation of the cerebral artery, Arte... OMIM:610168
Loeys-Dietz Syndrome 5
Neonatal hypotonia, Flexion contracture of toe, Aortic root aneurysm, Scapular winging, Congenita... OMIM:615582
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Aortic root aneurysm, Ascending tubular aorta aneurysm, Camptodactyly,... OMIM:300989
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Proximal muscle weakness in upper limbs, Distal amyotrophy, Vocal cord paresis, Flexion contractu... OMIM:607706
Aneurysm-Osteoarthritis Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Patent ductus arteriosus, Arterial tortuo... ORPHA:284984
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Pulmonary artery atresia, Double aortic arch, Pulmonic stenosis, Tetralogy of ... OMIM:618780
Loeys-Dietz Syndrome 3
Dilatation of the cerebral artery, Arterial tortuosity, Aortic regurgitation, Aortic aneurysm, At... OMIM:613795
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis, Hand muscle weakness OMIM:162500
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Hypertonia, Abnormal aortic morphology, Tetralogy of Fallot, Abn... ORPHA:1166
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase... OMIM:619178
Marfan Syndrome
Congestive heart failure, Aortic regurgitation, Aortic root aneurysm, Ascending tubular aorta ane... OMIM:154700
Encephalocraniocutaneous Lipomatosis
Hypertonia, Interrupted aortic arch, Tetraplegia, Spasticity, Abnormal aortic morphology, Pulmona... ORPHA:2396
Myasthenic Syndrome, Congenital, 16
Periodic paralysis OMIM:614198
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Proximal upper... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Proximal upper... ORPHA:261
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Congestive heart failure, Patent ductus arteriosus, Aortic regurg... ORPHA:3092
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations, Periodic paralysis, Rhabdomyolysis OMIM:188580
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Cerebral vasculitis ORPHA:83601
X-Linked Emery-Dreifuss Muscular Dystrophy
Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Proximal upper... ORPHA:98863
Oculopharyngodistal Myopathy
Abnormality of orbicularis oris muscle, Proximal muscle weakness in upper limbs, Distal lower lim... ORPHA:98897
Tricuspid Atresia
Persistent left superior vena cava, Coarctation of aorta, Transposition of the great arteries, Pu... ORPHA:1209
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Left ventricular outflow tract ... OMIM:613854
Hyperkalemic Periodic Paralysis
Congestive heart failure, Hypertonia, Periodic hyperkalemic paralysis, Fasciculations, Skeletal m... ORPHA:682
X-Linked Adrenoleukodystrophy
Paralysis, Incoordination, Paraparesis, Leg muscle stiffness, Hemiparesis, Progressive spastic pa... ORPHA:43
Non-Functioning Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Tremo... ORPHA:94080
Machado-Joseph Disease Type 1
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276238
Machado-Joseph Disease Type 2
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276241
Andersen-Tawil Syndrome
Torsade de pointes, Periodic hyperkalemic paralysis, Polymorphic ventricular tachycardia, Prolong... ORPHA:37553
Generalized Arterial Calcification Of Infancy
Calcification of the aorta, Left ventricular systolic dysfunction, Stroke, Hypertension, Transien... ORPHA:51608
Partial Atrioventricular Septal Defect
Atrial flutter, Angina pectoris, Syncope, Transient ischemic attack, Atrial arrhythmia, Aortic va... ORPHA:1330
Osteogenesis Imperfecta
Aortic regurgitation, Aortic aneurysm, Aortic root aneurysm, Arterial dissection, Aortic dissecti... ORPHA:666
Amyotrophic Lateral Sclerosis
Babinski sign, Progressive spinal muscular atrophy, Fasciculations, Progressive distal muscular a... ORPHA:803
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Facial palsy OMIM:107550
Weill-Marchesani Syndrome 2
Congestive heart failure, Flexion contracture of toe, Elbow flexion contracture, Pulmonic stenosi... OMIM:608328
Pseudohypoaldosteronism Type 2
Periodic paralysis, Hypertension ORPHA:757
Malignant Migrating Focal Seizures Of Infancy
Hypertonia, Hypotonia, Aortopulmonary collateral arteries ORPHA:293181
Toxin-Mediated Infectious Botulism
Paralysis, Diaphragmatic paralysis, Cerebral palsy ORPHA:230800
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Vocal cord paralysis, Intrinsic hand muscle atrophy, Decreased muscle mass, Hypotonia, Knee flexi... OMIM:615490
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Foodborne Botulism
Paralysis, Diaphragmatic paralysis, Cerebral palsy, Arrhythmia ORPHA:228371
Poliomyelitis
Hyperkinetic movements, Fasciculations, Hypoplasia of the musculature, Hypertension, Abnormal ske... ORPHA:2912
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Fasciculations, Tremor, Triceps weakness, Intrinsic hand muscle atrophy, Polyminimyoclonus, Vocal... OMIM:619574
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis, Hypertension OMIM:145260
Machado-Joseph Disease Type 3
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276244
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Peroneal muscle weakn... ORPHA:101097
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Transposition of the gre... OMIM:217095
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Hypertension, Aortic arch aneurysm, Arterial dissection, Aortic dissection... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Hypertension, Aortic arch aneurysm, Arterial dissection, Aortic dissection... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Hypertension, Aortic arch aneurysm, Arterial dissection, Aortic dissection... ORPHA:99228
Monosomy X
Prolonged QT interval, Hypertension, Aortic arch aneurysm, Arterial dissection, Aortic dissection... ORPHA:99226
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Respiratory paralysis, Tetraplegia, Tremor, Lower limb muscle weakness, Ve... ORPHA:79102
Paramyotonia Congenita Of Von Eulenburg
Neonatal hypotonia, Periodic hypokalemic paresis, EMG: myopathic abnormalities, Facial muscle hyp... ORPHA:684
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia, Periodic paralysis, Tremor OMIM:613239
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Hypotonia ORPHA:2516
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus OMIM:601612
16P13.11 Microduplication Syndrome
Coarctation of aorta, Transposition of the great arteries, Tetralogy of Fallot ORPHA:261243
You-Hoover-Fong Syndrome
Spasticity, Double aortic arch, Coarctation of aorta, Vascular ring, Ataxia, Hypotonia OMIM:616954
Japanese Encephalitis
Pill-rolling tremor, Hypertonia, Paralysis, Distal lower limb muscle weakness, Respiratory paraly... ORPHA:79139
Vascular Ehlers-Danlos Syndrome
Pulmonary artery aneurysm, Vascular dilatation, Aortic aneurysm, Arteriovenous fistulas of celiac... ORPHA:286
Pheochromocytoma/Paraganglioma Syndrome 1
Hypertension associated with pheochromocytoma, Vocal cord paralysis, Carotid paraganglioma, Tachy... OMIM:168000
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Ehlers-Danlos Syndrome, Vascular Type
Hemothorax, Descending aortic dissection, Ascending aortic dissection, Dilatation of the cerebral... OMIM:130050
Cardiac Diverticulum
Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Arrhyt... ORPHA:1686
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary arterial hyperten... OMIM:613426
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Distal amyotrophy, Limb muscle weakness, Gait ataxia, Intrinsic hand muscle atrophy, Vocal cord p... OMIM:614895
Scimitar Syndrome
Congestive heart failure, Abnormal hemidiaphragm morphology, Partial anomalous pulmonary venous r... ORPHA:185
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Loeys-Dietz Syndrome 1
Pulmonary artery aneurysm, Dilatation of the cerebral artery, Arterial tortuosity, Descending tho... OMIM:609192
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Truncal ataxia, Vocal cord paralysis, Knee clonus, Facial palsy, Ataxia, H... OMIM:211530
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus ORPHA:1455
Glioblastoma
Paralysis ORPHA:360
Porphyria, Acute Intermittent
Paralysis, Hypertension, Tachycardia, Respiratory paralysis OMIM:176000
Glossopharyngeal Neuralgia
Vascular dilatation, Bradycardia, Vocal cord paralysis, Jaw claudication, Syncope ORPHA:221098
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pulmonary artery atresi... OMIM:620294
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Aorta Coarctation
Congestive heart failure, Hypoplastic aortic arch, Coarctation of the descending aortic arch, Cor... ORPHA:1457
Aortic Arch Interruption
Absent pulse, Congestive heart failure, Transposition of the great arteries, Blood pressure subst... ORPHA:2299
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Sporadic Pheochromocytoma/Secreting Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Tremo... ORPHA:276621
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Limb ataxia, Calcification of the aorta, Hypertonia, Oculomotor apraxia, Spontaneous, recurrent e... ORPHA:2072
Rift Valley Fever
Hematemesis, Melena, Decerebrate rigidity, Retinal hemorrhage, Paraparesis, Hemiparesis, Paralysis ORPHA:319251
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Prominent U wave, Prolonged QTc interval, Scapular winging, Periodic paral... OMIM:170390
Gitelman Syndrome
Prolonged QT interval, Hypotension, Rhabdomyolysis, Ataxia, Ventricular tachycardia, Paralysis, P... OMIM:263800
Homozygous Familial Hypercholesterolemia
Calcification of the aorta, Hypertension, Precocious atherosclerosis, Peripheral arterial stenosi... ORPHA:391665
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Coarctation of aorta, Tetralogy of Fallot, Ataxia, Poor ... ORPHA:261183
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Abnormal aortic morphology, Patent ductus arteriosus, Atrioventri... ORPHA:392
Methimazole Embryofetopathy
Coarctation of aorta, Abnormal aortic morphology ORPHA:1923
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma, Vocal cord paralysis OMIM:605373
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Ischemic stroke, Aortic regurgitation, Aortic root aneurysm, Hyp... OMIM:208050
Double Outlet Right Ventricle
Tachycardia, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aort... ORPHA:3426
Absence Of The Pulmonary Artery
Congestive heart failure, Abnormal hemidiaphragm morphology, Atrial flutter, Reduced left ventric... ORPHA:980
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Spasticity, Vocal cord paralysis, Axial hypotonia, Dystonia, Myoclonus ORPHA:500144
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Inhalational Botulism
Paralysis ORPHA:254504
Diabetic Embryopathy
Transposition of the great arteries, Abnormal aortic morphology, Tetralogy of Fallot, Aplasia/Hyp... ORPHA:1926
Hereditary Motor And Sensory Neuropathy, Type Iic
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle... OMIM:606071
Gitelman Syndrome
Prolonged QT interval, Prominent U wave, Syncope, Low-to-normal blood pressure, ST segment depres... ORPHA:358
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Aortic regurgitation, Truncal ataxia, Premature ventricular contraction... OMIM:620066
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypertonia, Ataxia, Generalized hypotonia, Myoclonus, Paralysis, Hypotonia, Tetraparesis OMIM:203700
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:2001
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Hereditary Pheochromocytoma-Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Tremo... ORPHA:29072
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Tick-Borne Encephalitis
Hyperkinetic movements, Tongue fasciculations, Incoordination, Tremor, Facial palsy, Speech aprax... ORPHA:297
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Coarctation of aorta, Patent duc... OMIM:610338
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Right aortic arch with mirror image branching, Truncus arteriosu... OMIM:601186
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal hypotonia, Bradycardia, Hypertension, Retinal hemorrhage, Flexion contracture, Generaliz... OMIM:614653
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Abnormal aortic morphology,... ORPHA:251071
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Poor fine motor coord... ORPHA:99956
Phace Association
Vascular dilatation, Aortic aneurysm, Coarctation of aorta, Arterial stenosis, Patent ductus arte... OMIM:606519
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Right ... OMIM:617205
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Vocal cord paralysis ORPHA:142
Vocal Cord And Pharyngeal Distal Myopathy
Distal upper limb amyotrophy, Rimmed vacuoles, Vocal cord paresis, Abnormality of the extraocular... ORPHA:600
Loeys-Dietz Syndrome 6
Congenital diaphragmatic hernia, Arterial tortuosity, Vertebral artery aneurysm, Transient ischem... OMIM:619656
Heterotaxy, Visceral, 12, Autosomal
Left superior vena cava draining to coronary sinus, Partial anomalous pulmonary venous return, Hy... OMIM:619702
Right Atrial Isomerism
Transposition of the great arteries, Pulmonary artery atresia, Total anomalous pulmonary venous r... OMIM:208530
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal aortic morphology, Hypotonia ORPHA:1001
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Distal amyotrophy, Vocal cord paresis, Limb muscle weakness OMIM:601152
Meacham Syndrome
Transposition of the great arteries, Partial anomalous pulmonary venous return, Cardiac total ano... OMIM:608978
Intellectual Developmental Disorder, Autosomal Dominant 54
Hyperkinetic movements, Athetoid cerebral palsy, Lower limb spasticity, Vocal cord paralysis, Axi... OMIM:617799
African Trypanosomiasis
Myocarditis, Congestive heart failure, Fasciculations, Tremor, Involuntary movements, Abnormal EK... ORPHA:3385
Phace Syndrome
Abnormal carotid artery morphology, Aortic root aneurysm, Hemiplegia/hemiparesis, Coarctation of ... ORPHA:42775
Meacham Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Anomalous pulmonary venous ... ORPHA:3097
Esophageal Atresia
Hypertonia, Coarctation of aorta, Vocal cord paresis, Tetralogy of Fallot, Hypotonia ORPHA:1199
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Distal amyotrophy, Frequent falls, Head tremor, Gait ataxia, Vocal cord pa... ORPHA:99949
Tyrosinemia, Type I
Periodic paralysis, Melena, Hypertrophic cardiomyopathy, Gastrointestinal hemorrhage OMIM:276700
Alport Syndrome
Hypertension, Abnormal aortic morphology, Renal glomerular foam cells, Aortic aneurysm ORPHA:63
Arnold-Chiari Malformation Type I
Babinski sign, Abnormality of the musculature of the lower limbs, Progressive cerebellar ataxia, ... ORPHA:268882
Van Esch-O'Driscoll Syndrome
Pulmonary artery stenosis, Unilateral vocal cord paralysis, Spasticity, Hypotonia OMIM:301030
Fryns Syndrome
Congenital diaphragmatic hernia, Abnormal aortic morphology, Abnormal aortic arch morphology, Tet... ORPHA:2059
Mosaic Variegated Aneuploidy Syndrome
Muscular dystrophy, Rhabdomyosarcoma, Aortic regurgitation, Abnormal aortic morphology, Coarctati... ORPHA:1052
Feingold Syndrome 1
Interrupted aortic arch, Vocal cord paralysis, Tricuspid stenosis, Patent ductus arteriosus OMIM:164280
Pagod Syndrome
Congenital diaphragmatic hernia, Abnormal aortic morphology, Pulmonary artery hypoplasia, Arrhyth... ORPHA:991
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Holoprosencephaly
Congenital diaphragmatic hernia, Chorea, Spasticity, Abnormal aortic morphology, Dystonia, Tetral... ORPHA:2162
Tsh-Secreting Pituitary Adenoma
Congestive heart failure, Supraventricular arrhythmia, Tremor, Hypertension, Hypotension, Periodi... ORPHA:91347
Heterotaxy, Visceral, 5, Autosomal
Partial anomalous pulmonary venous return, Atrial reentry tachycardia, Ascending tubular aorta an... OMIM:270100
Mucopolysaccharidosis Type 3
Hypertonia, Reduced left ventricular ejection fraction, Spasticity, Vocal cord paresis, Ataxia, A... ORPHA:581
Acrofacial Dysostosis, Cincinnati Type
Pulmonary artery aneurysm, Anomalous origin of right coronary artery from the pulmonary artery, L... OMIM:616462
Williams-Beuren Syndrome
Retinal arteriolar tortuosity, Incoordination, Stroke, Hypertension, Vocal cord paralysis, Renal ... OMIM:194050
Degcags Syndrome
Tachycardia, Vocal cord paralysis, Pulmonary arterial hypertension, Pulmonic stenosis, Diaphragma... OMIM:619488
Mucopolysaccharidosis Type 2, Severe Form
Hypertension, Cardiomyopathy, Abnormal aortic morphology, Camptodactyly of finger, Heart murmur, ... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Hypertension, Cardiomyopathy, Abnormal aortic morphology, Camptodactyly of finger, Heart murmur, ... ORPHA:217093
Pineoblastoma
Paralysis ORPHA:251909
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Transposition of the great arteries, Ca... ORPHA:99125
Codas Syndrome
Vocal cord paresis, Hypotonia, Generalized hypotonia OMIM:600373
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis OMIM:259730
Mucopolysaccharidosis Type 2
Flexion contracture of digit, Hypertension, Cardiomyopathy, Abnormal aortic morphology, Periphera... ORPHA:580
Igg4-Related Thyroid Disease
Vocal cord paralysis ORPHA:64744
Fanconi Anemia
Abnormal carotid artery morphology, Arteriovenous malformation, Abnormal aortic morphology, Hyper... ORPHA:84
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Unilateral vocal cord paralysis, Flexion contracture of the 2nd finger, Joint contracture of the ... ORPHA:324540
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Abnormal aortic morphology, Tetralogy of Fallot ORPHA:1507
Schinzel-Giedion Syndrome
Hypertonia, Spasticity, Vocal cord paralysis, Camptodactyly, Macroglossia ORPHA:798
Igg4-Related Kidney Disease
Pericarditis, Abnormal aortic morphology, Arteritis ORPHA:449395
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Congestive heart failure, Gastrointestinal hemorrhage, Hypotonia, Arterial rupture OMIM:225400

Histopathology

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

Phenotype Allele Zygosity Sex Life Stage
Sternum - MPATH pathological process term hyperplasia Plod1tm1b(EUCOMM)Hmgu HOM Early adult
Sternum - MPATH pathological process term fibro-osseous lesion Plod1tm1b(EUCOMM)Hmgu HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Plod1.

No publications found that use IMPC mice or data for Plod1.

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
Plod1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Plod1tm44515(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Plod1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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