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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 prepulse inhibition Plod1tm1b(EUCOMM)Hmgu HOM Early adult 9.48×10-06
decreased grip strength Plod1tm1b(EUCOMM)Hmgu HOM Early adult 4.50×10-33

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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 Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Ophthalmoscopy

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Histopathology

Images

3 Images

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Eye Morphology

Images Slit Lamp

1 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 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
Muscle fiber atrophy, Neonatal hypotonia, Decreased muscle mass, Congestive heart failure, Elbow ... ORPHA:1900
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture, Hypotonia 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, Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudic... OMIM:135580
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extrac... ORPHA:229
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Clonus, Descending aortic dissection, Small thenar eminence, Ascending aortic d... OMIM:620080
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Para... ORPHA:36382
Acute Peripheral Arterial Occlusion
Myocardial infarction, Paralysis, Abnormal capillary physiology, Absent ankle pulse, Stroke, Supr... ORPHA:90064
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Distal amyotrophy, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Atrial fibrillation OMIM:616166
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage, Paralysis OMIM:603285
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aor... ORPHA:91387
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Paralysis, Hypotonia, Knee flexion contracture, Facial diplegia, Distal ... OMIM:616286
Aortic Valve Disease 3
Aortic root aneurysm, Ascending aortic dissection, Aortic valve stenosis OMIM:618496
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... OMIM:606777
Aortic Valve Disease 2
Aortic regurgitation, Calcification of the aorta, Coarctation of aorta, Mitral regurgitation, Asc... OMIM:614823
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Paralysis OMIM:608634
Porphyria, Acute Hepatic
Respiratory paralysis, Hypotonia, Paralysis OMIM:612740
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paralysis OMIM:158590
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Hand muscle atrophy, Hand muscle weakness, Vocal cord paralysis, Distal amyotrophy, Weakness of f... OMIM:607641
Mass Syndrome
Ascending aortic dissection, Aortic aneurysm OMIM:604308
Butyrylcholinesterase Deficiency
Congestive heart failure, Myocardial infarction, Paralysis ORPHA:132
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Ascending tubular aorta aneurysm, Aortic root aneurysm, Ascending aortic di... OMIM:619825
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Congestive heart failure, Heart mu... ORPHA:3400
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Muscle fiber atrophy, Neonatal hypotonia, Decreased muscle mass, Congestive heart failure, Elbow ... ORPHA:1900
Phosphoribosylpyrophosphate Synthetase Superactivity
Ataxia, Hypotonia, Hypertension, Cardiomyopathy, Abnormal aortic morphology, Arrhythmia ORPHA:3222
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Ataxia, Transient ischemic attack, Parkinsonism, Paralysis, Paraparesis, Int... ORPHA:140989
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... OMIM:617168
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Pulm... ORPHA:3342
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Giant Cell Arteritis
Pericarditis, Ataxia, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Aortic diss... ORPHA:397
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Rhabdomyolysis, Intracranial hemorrhage... ORPHA:449285
Lethal Congenital Contracture Syndrome 8
Flexion contracture, Vocal cord paralysis, Hypotonia, Facial diplegia, Distal amyotrophy, Distal ... OMIM:616287
Loeys-Dietz Syndrome 4
Torticollis, Arterial tortuosity, Ascending tubular aorta aneurysm, Aortic root aneurysm, Aortic ... OMIM:614816
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Lower-limb joint contracture, Paralysis OMIM:613710
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta... OMIM:175050
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb amyotrophy, Distal lower limb muscle weakness, Claw hand deformity, Paralysis OMIM:605285
Variegate Porphyria
Tachycardia, Paralysis OMIM:176200
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Involuntary movements, Subarachnoid he... ORPHA:90068
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... ORPHA:101112
Horner Syndrome, Congenital
Paralysis OMIM:143000
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Aortic regurgitation, Heart murmur, Coarctation of aorta, Hypertension, Asc... ORPHA:402075
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Paralysis, Hypotonia, Generalized hypotonia, Limb muscle weakness OMIM:612300
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Paralysis, Impaired myocardial contractility, Respiratory paral... ORPHA:681
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Tetralogy of Fallot, Left ventricular outflow tract obstruction, Coarctati... OMIM:615779
Rabies
Vocal cord paresis, Cerebral palsy, Sudden cardiac death ORPHA:770
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Diaphragmatic paralysis, Hypotonia ORPHA:868
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis, Dystonia OMIM:300857
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, Abnormal ... OMIM:272750
Congenital Myopathy 15
Tricuspid regurgitation, Fatty replacement of skeletal muscle, Vocal cord paralysis, Hypotonia, I... OMIM:620161
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta OMIM:241550
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Varicose veins, Pulmonic stenosis, Camptodactyly, Vascular dilatation OMIM:618343
Hypokalemic Periodic Paralysis, Type 1
Myopathy, Hypotonia, Periodic paralysis OMIM:170400
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... ORPHA:98757
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal lower limb amyotrophy, Postural tremor, Hand muscle weakness, Triceps weakness, Quadriceps... ORPHA:99947
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Tachycardia, Abnormal coronary artery morphology, Cardia... ORPHA:860
Hypokalemic Periodic Paralysis, Type 2
Myopathy, Periodic paralysis OMIM:613345
Loeys-Dietz Syndrome
Cardiac arrest, Camptodactyly of finger, Arterial tortuosity, Patent ductus arteriosus, Aortic di... ORPHA:60030
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Right aortic arch, Pulmonic stenosis, Pulmonary artery atresi... OMIM:618780
Loeys-Dietz Syndrome 5
Decreased muscle mass, Scapular winging, Hypotonia, Aortic root aneurysm, Mitral regurgitation, A... OMIM:615582
Charcot-Marie-Tooth Disease Type 4A
Hand muscle weakness, Quadriceps muscle weakness, Denervation of the diaphragm, Poor gross motor ... ORPHA:99948
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Proximal muscle weakness in upper limbs, Flexion contracture, Proximal muscle weakness in lower l... OMIM:607706
Marfan Syndrome
Skeletal muscle atrophy, Congestive heart failure, Descending aortic dissection, Hypotonia, Dilat... ORPHA:558
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arte... OMIM:610168
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag... OMIM:613795
Meester-Loeys Syndrome
Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cerebral artery, Aortic... OMIM:300989
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Arterial tortuosity, Patent d... ORPHA:284984
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis, Hand muscle weakness OMIM:162500
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Tetralogy of Fallot, Hypertonia, Abnormal aortic morphology, Abn... ORPHA:1166
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Congestive heart failure, Patent ductus arteriosus, Left ventricular outflow... ORPHA:99050
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Congestive heart failure, ... ORPHA:3092
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to contracture... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to contracture... ORPHA:261
Myasthenic Syndrome, Congenital, 16
Periodic paralysis OMIM:614198
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Coarctation of aorta, Calf muscle h... OMIM:619178
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Spasticity, Coarctation of aorta, Tetraplegia, Hemiparesis, Abnormal aortic ... ORPHA:2396
Marfan Syndrome
Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Congestive heart failure, F... OMIM:154700
Tricuspid Atresia
Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries... ORPHA:1209
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Rhabdomyolysis, Palpitations, Periodic paralysis OMIM:188580
X-Linked Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to contracture... ORPHA:98863
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Left ventricular outflow tract obstruction, Coarctation of aorta, Ri... OMIM:613854
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... ORPHA:98897
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Skeletal muscle atrophy, Cerebral palsy, Congestive heart failur... ORPHA:682
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... ORPHA:43
Non-Functioning Paraganglioma
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpitations, Positi... ORPHA:94080
Partial Atrioventricular Septal Defect
Atrial flutter, Transient ischemic attack, Angina pectoris, Patent ductus arteriosus, Anomalous p... ORPHA:1330
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... ORPHA:276241
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Transient ischemic attack, Coronary artery calcification,... ORPHA:51608
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Andersen-Tawil Syndrome
Prolonged QT interval, Periodic hyperkalemic paralysis, Bidirectional ventricular ectopy, Periodi... ORPHA:37553
Pseudohypoaldosteronism Type 2
Hypertension, Periodic paralysis ORPHA:757
Osteogenesis Imperfecta
Aortic regurgitation, Ataxia, Cerebral hemorrhage, Flexion contracture, Aortic root aneurysm, Tet... ORPHA:666
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Weill-Marchesani Syndrome 2
Congestive heart failure, Patent ductus arteriosus, Elbow flexion contracture, Mitral regurgitati... OMIM:608328
Malignant Migrating Focal Seizures Of Infancy
Hypotonia, Hypertonia, Aortopulmonary collateral arteries ORPHA:293181
Loeys-Dietz Syndrome 1
Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Aortic root an... OMIM:609192
Foodborne Botulism
Arrhythmia, Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased muscle mass, Vocal cord paralysis, Hypotonia, Intrinsic hand muscle atrophy, Knee flexi... OMIM:615490
Pseudohypoaldosteronism, Type Iia
Hypertension, Periodic hyperkalemic paralysis OMIM:145260
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis, Paraparesis, Abnormal skeletal... ORPHA:2912
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Tremor, Hypotonia, Intrinsic hand muscle atrophy, Pol... OMIM:619574
Conotruncal Heart Malformations
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... OMIM:217095
You-Hoover-Fong Syndrome
Ataxia, Hypotonia, Coarctation of aorta, Vascular ring, Spasticity, Double aortic arch OMIM:616954
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... ORPHA:276244
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Paralysis, Tremor, Abnormal muscle fiber morphology, Rhabdomyolysis, Short... ORPHA:79102
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Paralysis ORPHA:83601
Paramyotonia Congenita Of Von Eulenburg
Neonatal hypotonia, EMG: myopathic abnormalities, Periodic hypokalemic paresis, Facial muscle hyp... ORPHA:684
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Hypotonia ORPHA:2516
Aorta Coarctation
Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a... ORPHA:1457
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Prolonged QT interval, Myocardial infarction, Coarctation of aorta, Gastroi... ORPHA:99413
Turner Syndrome
Aortic arch aneurysm, Prolonged QT interval, Myocardial infarction, Coarctation of aorta, Gastroi... ORPHA:881
Mosaic Monosomy X
Aortic arch aneurysm, Prolonged QT interval, Myocardial infarction, Coarctation of aorta, Gastroi... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Prolonged QT interval, Myocardial infarction, Coarctation of aorta, Gastroi... ORPHA:99226
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta ORPHA:261243
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Tachycardia, Periodic paralysis OMIM:613239
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Vocal cord paralysis, Carotid paraganglioma, Palpitations, Hypertension associated w... OMIM:168000
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand ... ORPHA:101097
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Telangiectasia ... ORPHA:286
Ehlers-Danlos Syndrome, Vascular Type
Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Descending aortic dissection, A... OMIM:130050
Japanese Encephalitis
Skeletal muscle atrophy, Weakness due to upper motor neuron dysfunction, Facial palsy, Paralysis,... ORPHA:79139
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Spasticity, Paralysis ORPHA:803
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Cardiac Diverticulum
Ventricular tachycardia, Pulmonary artery hypoplasia, Abnormal EKG, Patent ductus arteriosus, Pul... ORPHA:1686
Scimitar Syndrome
Left-to-right shunt, Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery ... ORPHA:185
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Skeletal muscle atrophy, Limb muscle weakness, Intrinsic hand muscle atrophy, Gait ataxia, Distal... OMIM:614895
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Vocal cord paralysis, Hypoton... OMIM:211530
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Fatty replacement of skeletal muscle, Vocal cord paralysis, Myopathy, Increased variabili... ORPHA:397744
Porphyria, Acute Intermittent
Hypertension, Tachycardia, Respiratory paralysis, Paralysis OMIM:176000
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology ORPHA:1455
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, Transposition... OMIM:620294
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Glossopharyngeal Neuralgia
Vocal cord paralysis, Jaw claudication, Syncope, Bradycardia, Vascular dilatation ORPHA:221098
Glioblastoma
Paralysis ORPHA:360
Aortic Arch Interruption
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... ORPHA:2299
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpitations, Positi... ORPHA:276621
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Paralysis, Spastic paraplegia, Calcification of the aorta, Limb... ORPHA:2072
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Scapular winging, Bidirectional ventricular ectopy, Periodic paralysis, Sy... OMIM:170390
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... ORPHA:391665
Gitelman Syndrome
Prolonged QT interval, Ataxia, Paralysis, Rhabdomyolysis, Ventricular tachycardia, Palpitations, ... OMIM:263800
15Q11.2 Microdeletion Syndrome
Ataxia, Poor coordination, Coarctation of aorta, Total anomalous pulmonary venous return, Tetralo... ORPHA:261183
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, First degree atrioventricular block, Patent ductus arteriosus, At... ORPHA:392
Rift Valley Fever
Paralysis, Hematemesis, Paraparesis, Retinal hemorrhage, Melena, Hemiparesis, Decerebrate rigidity ORPHA:319251
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta ORPHA:1923
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Vocal cord paralysis, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Double Outlet Right Ventricle
Tachycardia, Double outlet right ventricle, Heart murmur, Coarctation of aorta, Pulmonic stenosis... ORPHA:3426
Arterial Tortuosity Syndrome
Aortic regurgitation, Carotid artery dissection, Congenital diaphragmatic hernia, Pulmonary arter... OMIM:208050
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Abnormal coronary artery morphology, Atrial fibrillati... ORPHA:980
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Diabetic Embryopathy
Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fallot, Abnormal aortic morpho... ORPHA:1926
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Axial hypotonia, Vocal cord paralysis, Myoclonus, Dystonia, Spasticity ORPHA:500144
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Proxi... OMIM:606071
Inhalational Botulism
Paralysis ORPHA:254504
Gitelman Syndrome
Prolonged QT interval, Paralysis, Raynaud phenomenon, Rhabdomyolysis, Low-to-normal blood pressur... ORPHA:358
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... OMIM:620066
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Hypotonia, Coarctation of aorta, Suprava... OMIM:618164
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpitations, Positi... ORPHA:29072
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Paralysis, Hypotonia, Hypertonia, Myoclonus, Generalized hypotonia, Tetraparesis OMIM:203700
Tick-Borne Encephalitis
Speech apraxia, Skeletal muscle atrophy, Incoordination, Facial palsy, Paralysis, Tremor, Hyperki... ORPHA:297
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypotonia, Coarctation of aorta, Pulmo... OMIM:601186
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Patent ductus arteriosus, Abnormal ao... ORPHA:251071
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... ORPHA:600
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... OMIM:617205
Phace Association
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... OMIM:606519
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bilateral vocal cord paresis, Tachycardia, Flexion contracture, Retinal hemorrhage, Hypotonia, Hy... OMIM:614653
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Hand muscle weakness, Tremor, Vocal cord paralysis, Poor... ORPHA:99956
Anaplastic Thyroid Carcinoma
Vocal cord paralysis, Abnormal skeletal muscle morphology ORPHA:142
Heterotaxy, Visceral, 12, Autosomal
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... OMIM:619702
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Transposition of the... OMIM:208530
Meacham Syndrome
Aplasia of the right hemidiaphragm, Patent ductus arteriosus, Partial anomalous pulmonary venous ... OMIM:608978
2Q37 Microdeletion Syndrome
Abnormal aortic morphology, Hypotonia, Congenital diaphragmatic hernia ORPHA:1001
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis, Distal amyotrophy, Limb muscle weakness OMIM:601152
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Axial hypotonia, Ataxia, Vocal cord paralysis, Hypotonia, Hyperkinetic mov... OMIM:617799
Phace Syndrome
Cerebral arteriovenous malformation, Hemiplegia/hemiparesis, Hypotonia, Coarctation of aorta, Aor... ORPHA:42775
African Trypanosomiasis
Abnormal EKG, Pericarditis, Abnormal central motor function, Involuntary movements, Paralysis, Tr... ORPHA:3385
Meacham Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Anomalous pulmonary venous return, Con... ORPHA:3097
Tyrosinemia, Type I
Melena, Hypertrophic cardiomyopathy, Gastrointestinal hemorrhage, Periodic paralysis OMIM:276700
Charcot-Marie-Tooth Disease Type 4C
Gait ataxia, Distal amyotrophy, Tongue fasciculations, Head tremor, Facial paralysis, Weakness of... ORPHA:99949
Esophageal Atresia
Hypotonia, Coarctation of aorta, Hypertonia, Vocal cord paresis, Tetralogy of Fallot ORPHA:1199
Arnold-Chiari Malformation Type I
Abnormality of the musculature of the lower limbs, Babinski sign, Vocal cord paralysis, Gait atax... ORPHA:268882
Alport Syndrome
Hypertension, Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology ORPHA:63
Van Esch-O'Driscoll Syndrome
Pulmonary artery stenosis, Unilateral vocal cord paralysis, Hypotonia, Spasticity OMIM:301030
Fryns Syndrome
Tetralogy of Fallot, Abnormal aortic arch morphology, Congenital diaphragmatic hernia, Abnormal a... ORPHA:2059
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Rhabdomyosarcoma, Hypotonia, Coarctation of aorta, Abnormal aortic morpholo... ORPHA:1052
Feingold Syndrome 1
Patent ductus arteriosus, Vocal cord paralysis, Tricuspid stenosis, Interrupted aortic arch OMIM:164280
Pagod Syndrome
Sudden cardiac death, Congenital diaphragmatic hernia, Pulmonary artery hypoplasia, Abnormal aort... ORPHA:991
Holoprosencephaly
Congenital diaphragmatic hernia, Chorea, Hypotonia, Spasticity, Abnormal aortic morphology, Dysto... ORPHA:2162
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Tremor, Congestive heart failure, Hypertension, Palpitations, Hypote... ORPHA:91347
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Diaphragmatic Hernia 4, With Cardiovascular Defects
Diaphragmatic eventration, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a... OMIM:620025
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Patent ductus arteriosus, Partial anomalous pulmonary venous return, ... OMIM:270100
Williams-Beuren Syndrome
Incoordination, Portal hypertension, Retinal arteriolar tortuosity, Poor coordination, Vocal cord... OMIM:194050
Mucopolysaccharidosis Type 3
Vocal cord paresis, Ataxia, Flexion contracture, Abnormal pyramidal sign, Atrioventricular block,... ORPHA:581
Congenital Total Pulmonary Venous Return Anomaly
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Pulmonary artery stenosis, Paten... ORPHA:99125
Degcags Syndrome
Tachycardia, Diaphragmatic eventration, Patent ductus arteriosus, Vocal cord paralysis, Hypotonia... OMIM:619488
Pineoblastoma
Paralysis ORPHA:251909
Mucopolysaccharidosis Type 2, Severe Form
Camptodactyly of finger, Flexion contracture, Peripheral arterial stenosis, Heart murmur, Cardiom... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Camptodactyly of finger, Flexion contracture, Peripheral arterial stenosis, Heart murmur, Cardiom... ORPHA:217093
Codas Syndrome
Vocal cord paresis, Hypotonia, Generalized hypotonia OMIM:600373
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis OMIM:259730
Mucopolysaccharidosis Type 2
Peripheral arterial stenosis, Cardiomyopathy, Hypertension, Abnormal aortic morphology, Contractu... ORPHA:580
Fanconi Anemia
Patent ductus arteriosus, Abnormal carotid artery morphology, Abnormal aortic morphology, Arterio... ORPHA:84
Igg4-Related Thyroid Disease
Vocal cord paralysis ORPHA:64744
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Flexion contracture of the 2nd finger, Unilateral vocal cord paralysis, Joint contracture of the ... ORPHA:324540
Autosomal Recessive Robinow Syndrome
Tetralogy of Fallot, Camptodactyly of finger, Abnormal aortic morphology ORPHA:1507
Schinzel-Giedion Syndrome
Vocal cord paralysis, Macroglossia, Hypertonia, Camptodactyly, Spasticity ORPHA:798
Igg4-Related Kidney Disease
Pericarditis, Abnormal aortic morphology, Arteritis ORPHA:449395
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture, Hypotonia 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 - developmental and structural abnormality Plod1tm1b(EUCOMM)Hmgu HOM Early adult
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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