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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.

Histopathology

Images

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Skull Lateral Orientation

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Gross Pathology and Tissue Collection

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Immunophenotyping

Panel A FCS file(s)

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Whole Body Lateral Orientation

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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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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
Arterial dissection, Aortic dissection, Abnormal venous morphology, Congestive heart failure, Neo... ORPHA:1900
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Arterial rupture, Gastrointestinal hemorrhage, Hypotonia, Congestive heart failure 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
Aortic dissection, Intermittent claudication, Stroke, Renovascular hypertension, Arterial fibromu... OMIM:135580
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather... OMIM:132900
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection... ORPHA:229
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:617349
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Distal lower limb muscle weakness, Descending aortic dissection, Small thenar eminence, Clonus, A... OMIM:620080
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... ORPHA:36382
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Limb muscle weakness, Abnormality of... ORPHA:90064
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Aortic tortuosity, Thoracic aortic aneurysm, Ascending aortic dissection OMIM:616166
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Paralysis, Cerebral hemorrhage OMIM:603285
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellu... ORPHA:91387
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Ascending aortic dissection OMIM:618496
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Facial diplegia, Knee flexion contract... OMIM:616286
Aortic Valve Disease 2
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Co... OMIM:614823
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreo... OMIM:606777
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Paralysis OMIM:608634
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Th... ORPHA:449400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paralysis OMIM:158590
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis, Hypotonia OMIM:612740
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Dystonia, Cho... ORPHA:71277
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection OMIM:604308
Hereditary Butyrylcholinesterase Deficiency
Paralysis, Myocardial infarction, Congestive heart failure ORPHA:132
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Aortic root aneurysm, Ascending aortic dissection, Ascending tubular aorta ... OMIM:619825
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal coronary artery morphology, Congestive heart failure, Abnormal aor... ORPHA:3400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Distal amyotrophy, Vocal cord paralysis, Tremor OMIM:158580
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro... OMIM:617168
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Aortic dissection, Abnormal venous morphology, Congestive heart failure, Neo... ORPHA:1900
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hypotonia, Abnormal aortic morphology, Arrhythmia, Ataxia, Hypertension ORPHA:3222
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Congestive heart failure, Hypert... ORPHA:3342
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Tetraparesis, Transient ischemic attack, Hemiparesis, Stroke, Paralysis, Par... ORPHA:140989
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Giant Cell Arteritis
Vasculitis, Epistaxis, Aortic dissection, Double outlet right ventricle with subpulmonary ventric... ORPHA:397
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Pseudobulbar paralysis, Cerebral ischemia, Rhabdomyoly... ORPHA:449285
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Pulmonary arteriovenous malform... OMIM:175050
Lethal Congenital Contracture Syndrome 8
Distal amyotrophy, Hypotonia, Facial diplegia, Distal arthrogryposis, Vocal cord paralysis, Flexi... OMIM:616287
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Paralysis, Skeletal muscle atrophy OMIM:613710
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb muscle weakness, Paralysis, Distal lower limb amyotrophy, Claw hand deformity OMIM:605285
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Involuntary movements, Aortic dissection, Prolonged QRS... ORPHA:90068
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, ... OMIM:614816
Variegate Porphyria
Tachycardia, Paralysis OMIM:176200
Horner Syndrome, Congenital
Paralysis OMIM:143000
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Aortic regurgitation, Thoracic aorta calcification, Aortic arch aneurysm, ... ORPHA:402075
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Limb muscle weakness, Paralysis OMIM:612300
Rabies
Vocal cord paresis, Sudden cardiac death, Cerebral palsy ORPHA:770
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Tetralogy of Fallot, Left ventricular outflow tract obstruction, Coarctati... OMIM:615779
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Hypotonia, Skeletal muscle atrophy, Diaphragmatic paralysis ORPHA:868
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Tricuspid regurgitation, Hypotonia, Type 1 muscle... OMIM:620161
Gm2-Gangliosidosis, Ab Variant
Spastic tetraparesis, Generalized hypotonia, Hypotonia, Chorea, Paralysis, Abnormal pyramidal sig... OMIM:272750
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Dystonia, Athetosis OMIM:300857
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Vascular dilatation, Varicose veins, Camptodactyly, Pulmonic stenosis OMIM:618343
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta OMIM:241550
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis, Increased intramyocellular lipid ... ORPHA:681
Hypokalemic Periodic Paralysis, Type 1
Hypotonia, Periodic paralysis, Myopathy OMIM:170400
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyram... ORPHA:98757
Marfan Syndrome
Aortic regurgitation, Arterial dissection, Aortic root aneurysm, Aortic dissection, Pulmonary art... ORPHA:558
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Parkinsonism OMIM:105500
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Quadriceps muscle weakness, Hand tremor, Hand muscle weakness, Postural tremor, Distal lower limb... ORPHA:99947
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Co... ORPHA:860
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Joint contracture of the hand, Distal amyotrophy, Generalized neonatal hypoto... ORPHA:99948
Loeys-Dietz Syndrome
Arterial dissection, Aortic dissection, Arterial tortuosity, Camptodactyly of finger, Aortic aneu... ORPHA:60030
Loeys-Dietz Syndrome 2
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Joint contracture of the hand, Aor... OMIM:610168
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Neonatal hypotonia, Decreased muscle mass, Hypotonia, Mitral regurgitation,... OMIM:615582
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Dilatation of the cerebral ar... OMIM:300989
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Proximal muscle weakness in upper limbs, Distal amyotrophy, Proximal muscle w... OMIM:607706
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Arterial dissection, Aortic dissection, Arterial tortuosity, Dilatation of ... ORPHA:284984
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Tetralogy of Fallot, Right aortic arch, Pulmonary artery atre... OMIM:618780
Loeys-Dietz Syndrome 3
Aortic regurgitation, Aortic dissection, Arterial tortuosity, Tortuous cerebral arteries, Dilatat... 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
Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal aortic morphology, Abnormality of ... ORPHA:1166
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Marfan Syndrome
Aortic regurgitation, Aortic root aneurysm, Aortic dissection, Pulmonary artery dilatation, Conge... OMIM:154700
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Interrupted aortic arch, Spasticity, Hemiplegia, Abnormal aortic morpholog... ORPHA:2396
Myasthenic Syndrome, Congenital, 16
Periodic paralysis OMIM:614198
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:261
Fixed Subaortic Stenosis
Aortic regurgitation, Congestive heart failure, Paroxysmal atrial fibrillation, Palpitations, Mit... ORPHA:3092
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Arteria lusoria, Pulmonary artery atresia, Abnormal descending a... 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
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98863
Oculopharyngodistal Myopathy
Vocal cord paresis, Proximal muscle weakness in upper limbs, Paraplegia, Distal lower limb amyotr... 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
Total anomalous pulmonary venous return, Tetralogy of Fallot, Right aortic arch, Coarctation of a... OMIM:613854
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Cerebral palsy, Congestive heart failure, Periodic hyperkalemic paralysi... ORPHA:682
X-Linked Adrenoleukodystrophy
Leg muscle stiffness, Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, P... ORPHA:43
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Pe... ORPHA:37553
Machado-Joseph Disease Type 1
Spasticity, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormality of extrapyramidal ... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormality of extrapyramidal ... ORPHA:276241
Generalized Arterial Calcification Of Infancy
Aortic dissection, Medial calcification of large arteries, Arterial calcification, Transient isch... ORPHA:51608
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Atrial flutter, Tetralogy of Fallot, Transient ischemic attack, Palpitatio... ORPHA:1330
Osteogenesis Imperfecta
Aortic regurgitation, Arterial dissection, Ataxia, Aortic root aneurysm, Aortic dissection, Tetra... ORPHA:666
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Spasticity, Skeletal muscle atrophy, Upper limb muscle weakn... ORPHA:803
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Facial palsy OMIM:107550
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Congestive heart failure, Elbow flexion contracture, Mitral regurgitation,... OMIM:608328
Pseudohypoaldosteronism Type 2
Periodic paralysis, Hypertension ORPHA:757
Malignant Migrating Focal Seizures Of Infancy
Aortopulmonary collateral arteries, Hypotonia, Hypertonia ORPHA:293181
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:230800
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased muscle mass, Hypotonia, Knee flexion contracture, Intrinsic hand muscle atrophy, Vocal ... OMIM:615490
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Foodborne Botulism
Diaphragmatic paralysis, Paralysis, Arrhythmia, Cerebral palsy ORPHA:228371
Poliomyelitis
Hypovolemic shock, Hypotension, Hypoplasia of the musculature, Skeletal muscle atrophy, Upper lim... ORPHA:2912
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Vocal cord paresis, Fasciculations, Hypotonia, Foot d... OMIM:619574
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis, Hypertension OMIM:145260
Machado-Joseph Disease Type 3
Spasticity, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormality of extrapyramidal ... ORPHA:276244
Conotruncal Heart Malformations
Coarctation of aorta, Transposition of the great arteries, Double outlet right ventricle, Truncus... OMIM:217095
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Vocal cord paresis, Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower li... ORPHA:101097
Turner Syndrome Due To Structural X Chromosome Anomalies
Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angiodysplasia, Co... ORPHA:99413
Turner Syndrome
Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angiodysplasia, Co... ORPHA:881
Mosaic Monosomy X
Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angiodysplasia, Co... ORPHA:99228
Monosomy X
Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angiodysplasia, Co... ORPHA:99226
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Periodic hypokalemic paresis, Lower limb muscle weakness, P... ORPHA:79102
Paramyotonia Congenita Of Von Eulenburg
EMG: myopathic abnormalities, Periodic hypokalemic paresis, Neonatal hypotonia, 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
Hypotonia, Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus OMIM:601612
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Coarctation of aorta, Transposition of the great arteries ORPHA:261243
You-Hoover-Fong Syndrome
Spasticity, Hypotonia, Coarctation of aorta, Ataxia, Double aortic arch, Vascular ring OMIM:616954
Japanese Encephalitis
Pill-rolling tremor, Skeletal muscle atrophy, Elbow flexion contracture, Cogwheel rigidity, Myocl... ORPHA:79139
Vascular Ehlers-Danlos Syndrome
Arterial dissection, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric v... ORPHA:286
Pheochromocytoma/Paraganglioma Syndrome 1
Palpitations, Carotid paraganglioma, Hypertension associated with pheochromocytoma, Vocal cord pa... OMIM:168000
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Dilatation of the cerebral artery, Arterial rupture, Hemothorax, Des... OMIM:130050
Cardiac Diverticulum
Aortic valve stenosis, Premature ventricular contraction, Arrhythmia, Abnormality of the diaphrag... ORPHA:1686
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgit... OMIM:613426
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Distal amyotrophy, Skeletal muscle atrophy, Gait ataxia, Limb muscle weakness... OMIM:614895
Scimitar Syndrome
Descending aorta hypoplasia, Pulmonary artery hypoplasia, Abnormal hemidiaphragm morphology, Cong... ORPHA:185
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Hypoplasia of the musculature, Aor... OMIM:609192
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus ORPHA:1455
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Skeletal muscle atrophy, Hypotonia, Hand muscle atrophy, Ankle clonus, Clu... OMIM:211530
Glioblastoma
Paralysis ORPHA:360
Porphyria, Acute Intermittent
Respiratory paralysis, Tachycardia, Hypertension, Paralysis OMIM:176000
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Arteria lusoria, Left axis deviation, Truncus arteriosus, Tra... OMIM:620294
Glossopharyngeal Neuralgia
Syncope, Vascular dilatation, Vocal cord paralysis, Bradycardia, Jaw claudication ORPHA:221098
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Aorta Coarctation
Congestive heart failure, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persisten... ORPHA:1457
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Abnormal ascendin... ORPHA:2299
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:276621
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spastic paraplegia, Calcification of the aorta, Limb ataxia, Appendicular hypotonia, Spontaneous,... ORPHA:2072
Rift Valley Fever
Hemiparesis, Paralysis, Paraparesis, Hematemesis, Melena, Retinal hemorrhage, Decerebrate rigidity ORPHA:319251
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Periodic hypokalemic paresis, Bidirectional ventricular ectopy, Palpitations, S... OMIM:170390
Gitelman Syndrome
Hypotension, Palpitations, Rhabdomyolysis, Paralysis, Ventricular tachycardia, Ataxia, Prolonged ... OMIM:263800
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Mitral regurgitation, Premature arteriosclerosis, Calcification of the aort... ORPHA:391665
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Tetralogy of Fallot, Coarctation of aorta, Ataxia, Poor ... ORPHA:261183
Holt-Oram Syndrome
Atrioventricular block, Paroxysmal atrial fibrillation, Abnormal aortic morphology, First degree ... 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
Aortic valve stenosis, Aortic regurgitation, Aortic root aneurysm, Generalized hypotonia, General... OMIM:208050
Double Outlet Right Ventricle
Pulmonary artery atresia, Tetralogy of Fallot, Heart murmur, Truncus arteriosus, Coarctation of a... ORPHA:3426
Absence Of The Pulmonary Artery
Atrial flutter, Abnormal coronary artery morphology, Congestive heart failure, Abnormal EKG, Redu... ORPHA:980
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Spasticity, Myoclonus, Vocal cord paralysis, Dystonia, Axial hypotonia ORPHA:500144
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Inhalational Botulism
Paralysis ORPHA:254504
Diabetic Embryopathy
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Aplasia/Hyp... ORPHA:1926
Hereditary Motor And Sensory Neuropathy, Type Iic
Vocal cord paresis, Proximal muscle weakness in upper limbs, Shoulder girdle muscle atrophy, Dist... OMIM:606071
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Palpitations, Rhabdomyolysis, ST segment depression, Paralysis... ORPHA:358
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Hypotonia, Mitral regurg... OMIM:620066
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tetraparesis, Generalized hypotonia, Hypotonia, Myoclonus, Paralysis, Hypertonia, Ataxia OMIM:203700
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:29072
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Tick-Borne Encephalitis
Tongue fasciculations, Skeletal muscle atrophy, Incoordination, Speech apraxia, Tremor, Hyperkine... ORPHA:297
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a... OMIM:610338
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Generalized hypotonia, Tetralogy of Fallot, Hypoto... OMIM:601186
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal hypotonia, Generalized hypotonia, Hypotonia, Bradycardia, Retinal hemorrhage, Tachycardi... OMIM:614653
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Tetralogy of Fallot, Abnormal aortic morphology, Congenital diaphrag... ORPHA:251071
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:99956
Phace Association
Arterial stenosis, Aortic aneurysm, Coarctation of aorta, Anomalous branches of internal carotid ... OMIM:606519
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Congenitally corrected transposition of the great arteries wi... OMIM:617205
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Vocal cord paralysis ORPHA:142
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Vocal cord paresis, Shoulder girdle muscle weakness, Distal upper limb amyotroph... ORPHA:600
Loeys-Dietz Syndrome 6
Vertebral artery aneurysm, Arterial tortuosity, Dilatation of the cerebral artery, Transient isch... OMIM:619656
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Hypoplastic aortic arch, Right aortic arch, Congenital... OMIM:619702
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Tetralogy of Fallot,... OMIM:208530
2Q37 Microdeletion Syndrome
Hypotonia, Congenital diaphragmatic hernia, Abnormal aortic morphology ORPHA:1001
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis, Distal amyotrophy, Limb muscle weakness OMIM:601152
Meacham Syndrome
Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Apl... OMIM:608978
Intellectual Developmental Disorder, Autosomal Dominant 54
Hypotonia, Hyperkinetic movements, Lower limb spasticity, Vocal cord paralysis, Ataxia, Athetoid ... OMIM:617799
African Trypanosomiasis
Involuntary movements, Second degree atrioventricular block, Third degree atrioventricular block,... ORPHA:3385
Phace Syndrome
Aortic root aneurysm, Tetralogy of Fallot, Hypotonia, Abnormal cerebral artery morphology, Hemipl... ORPHA:42775
Meacham Syndrome
Aortic valve stenosis, Tetralogy of Fallot, Conotruncal defect, Congenital diaphragmatic hernia, ... ORPHA:3097
Esophageal Atresia
Vocal cord paresis, Tetralogy of Fallot, Hypotonia, Coarctation of aorta, Hypertonia ORPHA:1199
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Vocal cord paresis, Distal amyotrophy, Facial paralysis, Head tremor, Gait... ORPHA:99949
Tyrosinemia, Type I
Hypertrophic cardiomyopathy, Gastrointestinal hemorrhage, Periodic paralysis, Melena OMIM:276700
Alport Syndrome
Aortic aneurysm, Renal glomerular foam cells, Hypertension, Abnormal aortic morphology ORPHA:63
Arnold-Chiari Malformation Type I
Gait ataxia, Babinski sign, Abnormality of the musculature of the lower limbs, Vocal cord paralys... ORPHA:268882
Van Esch-O'Driscoll Syndrome
Unilateral vocal cord paralysis, Pulmonary artery stenosis, Spasticity, Hypotonia OMIM:301030
Fryns Syndrome
Tetralogy of Fallot, Abnormal aortic arch morphology, Congenital diaphragmatic hernia, Abnormal a... ORPHA:2059
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Muscular dystrophy, Hypotonia, Abnormal aortic morphology, Coarctation of a... ORPHA:1052
Feingold Syndrome 1
Interrupted aortic arch, Tricuspid stenosis, Patent ductus arteriosus, Vocal cord paralysis OMIM:164280
Pagod Syndrome
Pulmonary artery hypoplasia, Abnormal aortic morphology, Abnormality of the pulmonary artery, Con... ORPHA:991
Holoprosencephaly
Spasticity, Tetralogy of Fallot, Hypotonia, Chorea, Abnormal aortic morphology, Congenital diaphr... ORPHA:2162
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Tsh-Secreting Pituitary Adenoma
Hypotension, Periodic hypokalemic paresis, Congestive heart failure, Palpitations, Tremor, Suprav... ORPHA:91347
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Dextrotransposition of the g... OMIM:270100
Mucopolysaccharidosis Type 3
Vocal cord paresis, Atrioventricular block, Spasticity, Reduced left ventricular ejection fractio... ORPHA:581
Acrofacial Dysostosis, Cincinnati Type
Pulmonary artery aneurysm, Laryngeal dystonia, Hypotonia, Abnormality of coordination, Myoclonus,... OMIM:616462
Williams-Beuren Syndrome
Peripheral pulmonary artery stenosis, Coronary artery stenosis, Generalized hypotonia, Retinal ar... OMIM:194050
Degcags Syndrome
Hypotonia, Persistent left superior vena cava, Pulmonary arterial hypertension, Vocal cord paraly... OMIM:619488
Mucopolysaccharidosis Type 2, Severe Form
Macroglossia, Cardiomyopathy, Camptodactyly of finger, Abnormal aortic morphology, Arrhythmia, Pe... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Macroglossia, Cardiomyopathy, Camptodactyly of finger, Abnormal aortic morphology, Arrhythmia, Pe... ORPHA:217093
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Right ventricular failure, Tricuspid regurgita... ORPHA:99125
Pineoblastoma
Paralysis ORPHA:251909
Codas Syndrome
Vocal cord paresis, Hypotonia, Generalized hypotonia OMIM:600373
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis OMIM:259730
Mucopolysaccharidosis Type 2
Contractures of the large joints, Cardiomyopathy, Abnormal aortic morphology, Flexion contracture... ORPHA:580
Igg4-Related Thyroid Disease
Vocal cord paralysis ORPHA:64744
Fanconi Anemia
Arteriovenous malformation, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Abnormal aortic mor... ORPHA:84
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Unilateral vocal cord paralysis, Joint contracture of the 5th finger, Flexion contracture of the ... ORPHA:324540
Autosomal Recessive Robinow Syndrome
Tetralogy of Fallot, Abnormal aortic morphology, Camptodactyly of finger ORPHA:1507
Schinzel-Giedion Syndrome
Spasticity, Vocal cord paralysis, Hypertonia, Camptodactyly, Macroglossia ORPHA:798
Igg4-Related Kidney Disease
Arteritis, Abnormal aortic morphology, Pericarditis ORPHA:449395
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Arterial rupture, Gastrointestinal hemorrhage, Hypotonia, Congestive heart failure 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 fibro-osseous lesion Plod1tm1b(EUCOMM)Hmgu HOM Early adult
Sternum - MPATH pathological process term hyperplasia 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
Plod1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Plod1tm44515(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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