Gene Summary

Name:
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
Synonyms:
lysyl hydroxylase 3,  LH3

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to tooth bud stage Plod3tm1.1(KOMP)Wtsi HOM   E12.5 0.00
abnormal embryo size Plod3tm1.1(KOMP)Wtsi HOM E9.5 0.00
abnormal pericardium morphology Plod3tm1.1(KOMP)Wtsi HOM E9.5 0.00
preweaning lethality, complete penetrance Plod3tm1.1(KOMP)Wtsi HOM   Early adult 0.00
abnormal urinary bladder morphology Plod3tm1.1(KOMP)Wtsi HET Early adult 0.00
embryonic growth retardation Plod3tm1.1(KOMP)Wtsi HOM E9.5 0.00
abnormal auditory brainstem response Plod3tm1.1(KOMP)Wtsi HET   Early adult 7.34×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

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 Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Morphology Embryo E9.5

Images

7 Images

Human diseases caused by Plod3 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 Plod3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bcard Syndrome
Bruising susceptibility, Dilatation of the cerebral artery, Postnatal growth retardation, Intraut... OMIM:612394

The table below shows human diseases predicted to be associated to Plod3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Localized skin lesion, Atypical scarring of skin, Keloids, Erythematous papule, Hyperkeratotic pa... ORPHA:79410
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Striae distensae, Transient ischemic attack, Cerebral ischemia... ORPHA:36382
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle, Vasculitis in the skin ORPHA:90000
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Pemphigoid Gestationis
Skin vesicle, Intrauterine growth retardation ORPHA:63275
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Dowling-Degos Disease
Palmar pits, Hyperkeratotic papule, Erythematous papule, Epidermoid cyst, Hyperpigmented papule, ... ORPHA:79145
Darier Disease
Plantar pits, Acrokeratosis, Skin vesicle, Macule, Hypermelanotic macule ORPHA:218
Pruritic Urticarial Papules And Plaques Of Pregnancy
Erythematous papule, Urticarial plaque, Striae distensae, Erythematous plaque, Skin vesicle, Palm... ORPHA:64745
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Intrauterine growth retardation, Redundant skin, Congestive heart failure OMIM:301021
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Hydrocephalus, Cleft palate OMIM:258320
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Pemphigus Foliaceus
Erythema, Skin erosion, Erythematous plaque, Skin vesicle, Scaling skin, Serpiginous cutaneous le... ORPHA:79481
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule, Skin vesicle ORPHA:257
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... ORPHA:284388
Familial Multiple Nevi Flammei
Arteriovenous malformation, Pulmonary embolism, Skin ulcer, Hypermelanotic macule, Nevus flammeus... ORPHA:624
Hennekam-Beemer Syndrome
Erythema, Hypotension, Skin vesicle, Arrhythmia, Telangiectasia of the skin, Macule, Short statur... ORPHA:2135
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Familial Benign Chronic Pemphigus
Erythema, Skin erosion, Skin vesicle ORPHA:2841
Wells Syndrome
Skin vesicle ORPHA:901
Pyoderma Gangrenosum
Atrophic scars, Papule, Skin vesicle, Skin ulcer ORPHA:48104
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Erythema, Locali... ORPHA:449285
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Skin vesicle, Erythema migrans ORPHA:158681
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... ORPHA:331
Familial Afibrinogenemia
Gingival bleeding, Epistaxis, Abnormal bleeding, Cerebral hemorrhage, Miscarriage ORPHA:98880
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Dermatitis Herpetiformis
Erythema, Skin vesicle, Macule ORPHA:1656
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... ORPHA:853
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Macule, Pyoderma gangren... ORPHA:49566
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... ORPHA:169805
Porphyria Variegata
Localized skin lesion, Skin erosion, Milia, Skin vesicle, Tachycardia, Hypertension ORPHA:79473
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:227500
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Brain Small Vessel Disease 2
Intracranial hemorrhage, Growth delay OMIM:614483
Abeta Amyloidosis, Iowa Type
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Abnormal EKG OMIM:613102
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Lichen Planus Pemphigoides
Skin vesicle ORPHA:254478
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Dural Sinus Malformation
Myelopathy, Abnormal facial vein morphology, Subdural hemorrhage, Stroke, Subarachnoid hemorrhage... ORPHA:97339
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... ORPHA:169802
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke, Cerebra... ORPHA:136
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Iga Pemphigus
Skin plaque, Skin vesicle, Skin erosion, Annular cutaneous lesion ORPHA:555905
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Skin vesicle, Papule, Skin ulcer, Vascular dilatation ORPHA:2314
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Nevus, Hydrocephalus ORPHA:398189
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr... ORPHA:465
Neurocutaneous Melanocytosis
Melanocytic nevus, Intracranial hemorrhage, Death in infancy, Numerous congenital melanocytic nev... ORPHA:2481
Sweet Syndrome
Dilated cardiomyopathy, Erythematous papule, Erythematous plaque, Skin vesicle, Pyoderma gangreno... ORPHA:3243
Sneddon Syndrome
Atrophic scars, Ischemic stroke, Stroke, Cerebral hemorrhage, Hypertension OMIM:182410
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, De... ORPHA:280679
Menkes Disease
Intrauterine growth retardation, Death in childhood, Cutis laxa, Short stature, Intracranial hemo... OMIM:309400
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Dyskeratosis Congenita
Hypopigmented skin patches, Skin ulcer, Intrauterine growth retardation, Skin vesicle, Aplasia/Hy... ORPHA:1775
Sneddon Syndrome
Arterial stenosis, Hypertension, Intracranial hemorrhage ORPHA:820
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Anencephaly 2
Median cleft upper lip, Cleft maxillary alveolar ridge, Median cleft palate, Anencephaly OMIM:619452
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Fetal Gaucher Disease
Intracranial hemorrhage, Stillbirth, Death in infancy, Neonatal death ORPHA:85212
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... ORPHA:31825
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Recurrent cerebra... OMIM:605714
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, High-output c... OMIM:187300
Primary Angiitis Of The Central Nervous System
Stroke, Transient ischemic attack, Intracranial hemorrhage, Cerebral vasculitis ORPHA:140989
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Spina bifida, Anencephaly, Non-midline cleft of the upper lip, Cleft palate ORPHA:2476
Parkes Weber Syndrome
Arteriovenous malformation, Myelopathy, Vascular tortuosity, Abnormal bleeding, Skin ulcer, Capil... ORPHA:90307
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas... OMIM:610655
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Acute Generalized Exanthematous Pustulosis
Skin vesicle, Purpura, Scaling skin ORPHA:293173
Wyburn-Mason Syndrome
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... ORPHA:53719
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art... OMIM:600376
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular... ORPHA:464321
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:94080
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Death in infa... OMIM:620300
Hypophosphatasia, Infantile
Disproportionate short-limb short stature, Skin dimple over apex of long bone angulation, Death i... OMIM:241500
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Facial erythema ORPHA:284227
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery... ORPHA:90065
Diprosopus
Anencephaly, Non-midline cleft of the upper lip, Cleft palate ORPHA:1681
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft lip, Neural tube defect, Bilateral cleft palate OMIM:600776
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Periventricular Nodular Heterotopia 1
Stroke, Patent ductus arteriosus, Cerebral hemorrhage OMIM:300049
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Postnatal... OMIM:300845
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Leukocyte Adhesion Deficiency Type Ii
Short stature, Skin vesicle, Intrauterine growth retardation, Umbilical hernia ORPHA:99843
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... ORPHA:99828
Joubert Syndrome 15
Exencephaly OMIM:614464
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Medial calcification of medi... OMIM:177850
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Bruising susceptibility, Pallor, Prolonged bleeding time ORPHA:3226
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Herpes Simplex Virus Stromal Keratitis
Herpetiform vesicles ORPHA:137599
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ... ORPHA:774
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... ORPHA:199306
Chikungunya
Gingival bleeding, Epistaxis, Erythema, Abnormal bleeding, Petechiae, Skin vesicle, Raynaud pheno... ORPHA:324625
Schisis Association
Unilateral cleft lip, Encephalocele, Tracheoesophageal fistula, Spina bifida, Anal atresia, Anenc... ORPHA:63862
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi... ORPHA:494424
Joubert Syndrome 14
Encephalocele, Hypertension, Hydrocephalus, Meningocele, Intracranial hemorrhage, Growth delay OMIM:614424
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Carotid artery dilatation, Patent ductus arterio... ORPHA:91387
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Subdural hemorrhage, Sacral dimple OMIM:618291
Erythrocytosis, Familial, 2
Hypotension, Varicose veins, Stroke, Pulmonary arterial hypertension, Cerebral hemorrhage OMIM:263400
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Erythematous plaque, Intracrania... ORPHA:324636
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Polycythemia Vera
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage OMIM:263300
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Erythrocytosis, Familial, 1
Hypertension, Myocardial infarction, Cerebral hemorrhage OMIM:133100
Bannayan-Riley-Ruvalcaba Syndrome
Arteriovenous malformation, Nevus, Subcutaneous hemorrhage, Telangiectasia, Angina pectoris, Aort... ORPHA:109
Aspergillosis
Stroke, Localized skin lesion, Intracranial hemorrhage ORPHA:1163
Familial Hyperaldosteronism Type Ii
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:404
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:403
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intrauterine growth retardation, Death in childhood, Death in infancy, Neonatal death, Death in a... OMIM:619055
Mirage Syndrome
Intrauterine growth retardation, Petechiae, Hydrocephalus, Short stature, Intracranial hemorrhage... OMIM:617053
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Subdural hemorrhage, Death in infancy OMIM:615368
Abeta Amyloidosis, Dutch Type
Stroke, Death in early adulthood, Cerebral hemorrhage ORPHA:100006
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:251274
Acys Amyloidosis
Stroke, Death in early adulthood, Cerebral hemorrhage ORPHA:100008
Propionic Acidemia
Short stature, Cerebellar hemorrhage, Cardiomyopathy OMIM:606054
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Wiskott-Aldrich Syndrome
Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hema... ORPHA:906
Menkes Disease
Gastrointestinal hemorrhage, Atypical scarring of skin, Spontaneous hematomas, Umbilical hernia, ... ORPHA:565
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Pulmonary arterial hypertension, Intracranial he... ORPHA:369929
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert... OMIM:171300
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Petechiae, Patent ductus arteriosus, Bradycardia OMIM:617397
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:276621
Stormorken Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, Subarachnoid hemorrha... OMIM:185070
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Tarp Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Subdural hemorrhage, Neonatal death OMIM:311900
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke, Hydrocephalus ORPHA:447788
Pseudo-Torch Syndrome 3
Hypertension, Death in infancy, Cerebral hemorrhage OMIM:618886
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension ORPHA:231625
Meckel Syndrome, Type 5
Cleft palate, Occipital encephalocele, Cleft upper lip, Anencephaly OMIM:611561
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebellar hemorrh... ORPHA:99901
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Short stature, Fetal intraventricular hemorrhage, Sacral dimple OMIM:618480
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters, Neonatal death OMIM:619817
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Aortic root aneurysm, Congestive heart failure, Aortic atherosclerotic les... ORPHA:363618
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Hydrocephalus, Cleft palate ORPHA:2736
Chronic Graft Versus Host Disease
Erythema, Intermittent generalized erythematous papular rash, Skin vesicle, Skin ulcer ORPHA:99921
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:29072
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal lymphatic vessel morphology, Ecch... ORPHA:464329
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Tricuspid regurgitation, Retinal arterial tortuosity, Retinal hemorrhage, Vitreo... OMIM:620371
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Petechiae, Ecchymosis, H... ORPHA:340
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in infancy, Subdural hemorrhage, Death in childhood, Cerebral hemorrhage OMIM:620278
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Cardiomyopathy OMIM:251000
Kyphoscoliotic Ehlers-Danlos Syndrome
Atypical scarring of skin, Subdural hemorrhage, Bruising susceptibility, Umbilical hernia, Arteri... ORPHA:536545
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro... ORPHA:90068
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Intraventricular hemorrhage ORPHA:401986
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Congestive heart failure, Transient ischemic attack, ... ORPHA:3260
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Hemoth... ORPHA:99827
Adult Krabbe Disease
Urinary incontinence, Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Riddle Syndrome
Erythema, Conjunctival telangiectasia, Telangiectasia, Intraventricular hemorrhage, Scaling skin,... ORPHA:420741
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Dermal atrophy, Mitral regurgitation, Left ventricular diastolic dysfuncti... ORPHA:740
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Arteriovenous malformation, Pulmonary embolism, Subcutaneous hemorrh... ORPHA:394
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Intrauterine growth retardation,... ORPHA:79282
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intrauterine growth retardation, Growth delay, Intraventricular hemorrhage ORPHA:79284
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Subarachnoid hemorrhage, Growth delay, Cerebral vasculitis OMIM:243700
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele, Long philtrum ORPHA:2211
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Communicating hydrocephalus, Subdural hemorrhage ORPHA:25
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Urinary retention, Abnormality of somatosensory evoked poten... ORPHA:99027
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Arrhythmia, Dilated cardiomyopathy, Antenatal intracerebral hemorrhage, Death in infancy OMIM:608836
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Hydrocephalus, Short stature, Heart murmur, Intracranial hemorrhage, Pat... ORPHA:163979
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ... ORPHA:101085
Hydranencephaly
Postnatal growth retardation, Intrauterine growth retardation, Abnormal internal carotid artery m... ORPHA:2177
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Short stature, Intracranial hemorrhage, Hypertension ORPHA:90795
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anal atresia, Anencephaly ORPHA:63260
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage, Hydrocephalus, Sacral dimple OMIM:613603
Combined Oxidative Phosphorylation Deficiency 25
Short stature, Intraventricular hemorrhage OMIM:616430
Arachnoid Cyst
Hydrocephalus, Subarachnoid hemorrhage, Holoprosencephaly, Encephalocele ORPHA:2356
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Short stature, Intrauterine growth retardation, Subdural hemorrhage OMIM:619714
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Renal insufficiency, Abnormality of peripheral nerve conductio... ORPHA:90321
Medulloblastoma
Cerebellar hemorrhage, Hydrocephalus ORPHA:616
Cockayne Syndrome Type 3
Vascular calcification, Aortic root aneurysm, Premature coronary artery atherosclerosis, Subdural... ORPHA:90324
Glycogen Storage Disease Ii
Sinus tachycardia, Dilatation of the cerebral artery, Shortened PR interval, Subarachnoid hemorrh... OMIM:232300
Osteogenesis Imperfecta
Arterial dissection, Aortic regurgitation, Rhizomelia, Aortic root aneurysm, Aortic dissection, B... ORPHA:666
Nelson Syndrome
Striae distensae, Intracranial hemorrhage, Hypertension ORPHA:199244
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitation, Dilatation of the si... OMIM:613795
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Hellp Syndrome
Hypotension, Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage ORPHA:244242
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... OMIM:609136
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Multiple renal cys... ORPHA:171929
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... ORPHA:79330
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Sacral dimple, Postnatal growth retardation, Numerous nevi, Intraventricular hemo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Sacral dimple, Postnatal growth retardation, Numerous nevi, Intraventricular hemo... ORPHA:363958
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus ORPHA:91350
Dpagt1-Cdg
Prolonged QT interval, Stroke-like episode, Intracranial hemorrhage, Skin dimple ORPHA:86309
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... ORPHA:909
Superficial Siderosis
Abnormal bleeding, Arteriovenous malformation, Abnormal vertebral artery morphology, Subarachnoid... ORPHA:247245
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Renal in... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Renal in... OMIM:216400
Osteogenesis Imperfecta, Type Xvii
Short stature, Intraventricular hemorrhage OMIM:616507
Viss Syndrome
Iliac artery aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Bruising susceptibility, ... OMIM:619472
Acute Liver Failure
Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Prol... ORPHA:90062
Meningioma
Syncope, Hydrocephalus, Cerebral hemorrhage ORPHA:2495
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Retinal arteriolar tortuosity, Ischemic stroke, Corneal neovasc... OMIM:175780
Witteveen-Kolk Syndrome
Branchial fistula, Intrauterine growth retardation, Short stature, Intracranial hemorrhage, Growt... OMIM:613406
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Preauricular skin tag, Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Rectal abscess, Meningocele, Dermal sinus tract OMIM:600145
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Acute Transverse Myelitis
Subarachnoid hemorrhage, Hypertension, Orthostatic hypotension ORPHA:139417
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Pmm2-Cdg
Hypertrophic cardiomyopathy, Angina pectoris, Intracranial hemorrhage, Pericarditis ORPHA:79318
Bcard Syndrome
Bruising susceptibility, Dilatation of the cerebral artery, Postnatal growth retardation, Intraut... OMIM:612394

Histopathology

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

There is no histopathology data for Plod3

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 Plod3.

No publications found that use IMPC mice or data for Plod3.

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
Plod3tm1.1(KOMP)Wtsi Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Plod3tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Plod3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter