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
abnormal embryo size Plod3tm1.1(KOMP)Wtsi HOM E9.5 0.00
abnormal pericardium morphology Plod3tm1.1(KOMP)Wtsi HOM E9.5 0.00
embryonic growth retardation Plod3tm1.1(KOMP)Wtsi HOM E9.5 0.00
preweaning lethality, complete penetrance Plod3tm1.1(KOMP)Wtsi HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Plod3tm1.1(KOMP)Wtsi HOM   E12.5 0.00
abnormal urinary bladder morphology Plod3tm1.1(KOMP)Wtsi HET Early adult 0.00
abnormal auditory brainstem response Plod3tm1.1(KOMP)Wtsi HET   Early adult 7.19×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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 Ambiguous
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 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

Gross Morphology Embryo E9.5

Images

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 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
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Intrauterine growth retardation, Arterial rupture, Postnatal growth retardation, Dilatation of th... 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
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Hyperkeratotic papule, Keloids, Erythematous papule, Atrophic scars, Skin erosion, Atypical scarr... ORPHA:79410
Erythema Elevatum Diutinum
Vasculitis in the skin, Skin nodule, Skin vesicle ORPHA:90000
Pemphigoid Gestationis
Intrauterine growth retardation, Skin vesicle 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
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm OMIM:618734
Familial Cervical Artery Dissection
Hypertension, Recurrent cerebral hemorrhage, Thin skin, Striae distensae, Cerebral ischemia, Stro... ORPHA:36382
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Telangiectasia, Cerebral cavernous malformation, Stroke OMIM:603284
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Dowling-Degos Disease
Hyperkeratotic papule, Epidermoid cyst, Palmar pits, Erythematous papule, Digital pitting scar, H... ORPHA:79145
Pruritic Urticarial Papules And Plaques Of Pregnancy
Erythematous plaque, Erythematous papule, Striae distensae, Palmoplantar erythema, Facial erythem... ORPHA:64745
Darier Disease
Plantar pits, Macule, Acrokeratosis, Hypermelanotic macule, Skin vesicle ORPHA:218
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Cleft palate, Hydrocephalus, Bifid uvula OMIM:258320
Menkes Disease
Intracranial hemorrhage, Intrauterine growth retardation, Cutis laxa, Short stature, Death in chi... OMIM:309400
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Redundant skin, Congestive heart failure, Intrauterine growth retardation OMIM:301021
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
+173470 integrin, beta-3
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, ... OMIM:173470
Glanzmann Thrombasthenia 1
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, ... OMIM:273800
Cerebral Amyloid Angiopathy, Cst3-Related
Cerebral hemorrhage, Stroke, Intracranial hemorrhage OMIM:105150
Congenital Factor V Deficiency
Bruising susceptibility, Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following proce... ORPHA:326
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia OMIM:606713
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... ORPHA:320401
Abetal34V Amyloidosis
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324703
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Papule, Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:257
Factor Xiii, A Subunit, Deficiency Of
Ecchymosis, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Spontaneous hematomas, Abnormal... OMIM:613225
Dermatitis Herpetiformis
Erythema, Macule, Skin vesicle ORPHA:1656
Pemphigus Foliaceus
Erythematous plaque, Annular cutaneous lesion, Erythema, Skin erosion, Serpiginous cutaneous lesi... ORPHA:79481
Immune Thrombocytopenia
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Purpur... ORPHA:3002
Pyoderma Gangrenosum
Atrophic scars, Papule, Skin ulcer, Skin vesicle ORPHA:48104
Hennekam-Beemer Syndrome
Macule, Short stature, Erythema, Telangiectasia of the skin, Papule, Subcutaneous nodule, Arrhyth... ORPHA:2135
Reversible Cerebral Vasoconstriction Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Vasospasm, Intraventricular hemorrhage, Abnormal bleedi... ORPHA:284388
Congenital Factor Ii Deficiency
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... ORPHA:325
Wells Syndrome
Skin vesicle ORPHA:901
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Purpura, Pulmonary embolism OMIM:614514
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Skin vesicle ORPHA:158681
Fetal And Neonatal Alloimmune Thrombocytopenia
Ecchymosis, Intracranial hemorrhage, Petechiae, Melena, Spontaneous hematomas, Cephalohematoma, G... ORPHA:853
Snakebite Envenomation
Ecchymosis, Intracranial hemorrhage, Gingival bleeding, Erythema, Epistaxis, Tachycardia, Cerebra... ORPHA:449285
Familial Benign Chronic Pemphigus
Skin erosion, Erythema, Skin vesicle ORPHA:2841
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Congenital Factor Xiii Deficiency
Ecchymosis, Cerebral hemorrhage, Menorrhagia, Gingival bleeding, Post-partum hemorrhage, Joint he... ORPHA:331
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Skin ulcer, Nevus flammeus, Papule, Pulmonary embolism, Arrhythmia, Hype... ORPHA:624
Moderate Hemophilia A
Intracranial hemorrhage, Epidural hemorrhage, Gingival bleeding, Subdural hemorrhage, Joint hemor... ORPHA:169805
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Macule, Macular purpura, Pyoderma gangrenosum, Prolonged prothrom... ORPHA:49566
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Severe Hemophilia A
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Subdural hemorrhage, Joint hemorrhage,... ORPHA:169802
Congenital Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:327
Sneddon Syndrome
Cerebral hemorrhage, Hypertension, Atrophic scars, Ischemic stroke OMIM:182410
Cerebral Cavernous Malformations 3
Cerebral hemorrhage, Cerebral cavernous malformation OMIM:603285
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324708
Lichen Planus Pemphigoides
Skin vesicle ORPHA:254478
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Porphyria Variegata
Hypertension, Tachycardia, Skin erosion, Milia, Localized skin lesion, Skin vesicle ORPHA:79473
Abeta Amyloidosis, Italian Type
Cerebral hemorrhage, Stroke ORPHA:324713
Focal Facial Dermal Dysplasia Type Iv
Nevus, Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Brain Small Vessel Disease 2
Intracranial hemorrhage, Growth delay OMIM:614483
Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Abnormal bleeding OMIM:227500
Neurocutaneous Melanocytosis
Meningocele, Intracranial hemorrhage, Death in infancy, Melanocytic nevus, Numerous congenital me... ORPHA:2481
Hemophilia A
Intracranial hemorrhage, Joint hemorrhage, Bleeding with minor or no trauma, Spontaneous hematoma... ORPHA:98878
Combined Deficiency Of Factor V And Factor Viii
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... ORPHA:35909
Sweet Syndrome
Dilated cardiomyopathy, Skin nodule, Erythematous plaque, Pyoderma gangrenosum, Erythematous papu... ORPHA:3243
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality OMIM:617519
Familial Cerebral Saccular Aneurysm
Hypertension, Intracranial hemorrhage, Abnormal circle of Willis morphology, Cerebral berry aneur... ORPHA:231160
Iga Pemphigus
Skin erosion, Annular cutaneous lesion, Skin plaque, Skin vesicle ORPHA:555905
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Cerebral ischemia, Stroke, Transient ... ORPHA:136
Hemophilia B
Intracranial hemorrhage, Joint hemorrhage, Spontaneous, recurrent epistaxis, Cephalohematoma, Pro... ORPHA:98879
Congenital Alpha2-Antiplasmin Deficiency
Intracranial hemorrhage, Gingival bleeding, Joint hemorrhage, Persistent bleeding after trauma, A... ORPHA:79
Congenital Factor X Deficiency
Menorrhagia, Subarachnoid hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:328
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Hypertension, Moyamoya phenomenon, Cerebral hemorrhage, Short stature, Is... ORPHA:280679
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Autosomal Dominant Hyper-Ige Syndrome
Papule, Skin ulcer, Skin vesicle ORPHA:2314
Factor X Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... OMIM:227600
Fetal Gaucher Disease
Death in infancy, Neonatal death, Intracranial hemorrhage, Stillbirth ORPHA:85212
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle OMIM:613102
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Moyamoya phenomenon, Cerebral hemorrhage, Short stature, Abnormal cerebra... OMIM:300845
Methanol Poisoning
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Permanent atrial fibrillation, Myocar... ORPHA:31825
Sneddon Syndrome
Hypertension, Intracranial hemorrhage ORPHA:820
Dyskeratosis Congenita
Hypopigmented skin patches, Macule, Intrauterine growth retardation, Short stature, Skin ulcer, T... ORPHA:1775
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Transient ischemic attack, Stroke, Cerebral vasculitis ORPHA:140989
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Subarachnoid hemorrhage, Cerebral vasculitis OMIM:243700
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Joint hemorrha... ORPHA:465
Hypophosphatasia, Infantile
Death in infancy, Intracranial hemorrhage, Disproportionate short-limb short stature, Stillbirth,... OMIM:241500
Van Der Woude Syndrome 1
Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Bifid uvula OMIM:119300
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... OMIM:601596
Acquired Von Willebrand Syndrome
Menorrhagia, Intracranial hemorrhage, Mitral regurgitation, Prolonged prothrombin time, Aortic re... ORPHA:99147
Hereditary Hemorrhagic Telangiectasia
Cerebral hemorrhage, Conjunctival telangiectasia, Telangiectasia of the skin, Epistaxis, Pulmonar... ORPHA:774
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Cleft palate, Ectopic anus, Anencephaly, Non-midline cleft lip, Spina bifida ORPHA:2476
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Facial erythema ORPHA:284227
Familial Afibrinogenemia
Cerebral hemorrhage, Epistaxis, Abnormal bleeding, Gingival bleeding ORPHA:98880
Non-Functioning Paraganglioma
Cerebral hemorrhage, Palpitations, Congestive heart failure, Pallor, Hypertension associated with... ORPHA:94080
Mitochondrial Complex I Deficiency, Nuclear Type 35
Redundant neck skin, Intrauterine growth retardation, Neonatal death, Pulmonary arterial hyperten... OMIM:619003
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Dural Sinus Malformation
Cerebral hemorrhage, Intracranial hemorrhage, Subdural hemorrhage, Stroke, Hydrocephalus, Subarac... ORPHA:97339
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... ORPHA:90065
Dengue Fever
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Hypote... ORPHA:99828
Leukocyte Adhesion Deficiency Type Ii
Intrauterine growth retardation, Umbilical hernia, Short stature, Skin vesicle ORPHA:99843
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Recurrent cerebral hemorrhage, Cerebral ischemia, Stroke, Cerebellar ... OMIM:605714
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Cafe-au-lait spot, Congestive heart fail... OMIM:171420
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral hemorrhage, Hypertrophic cardiomyopathy, Intracranial hemorrhage, Erythematous plaque, E... ORPHA:464321
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension ORPHA:84090
Chikungunya
Macule, Gingival bleeding, Petechiae, Erythema, Epistaxis, Raynaud phenomenon, Abnormal bleeding,... ORPHA:324625
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Pallor, Prolonged bleeding time, Bruising susceptibility ORPHA:3226
Wyburn-Mason Syndrome
Cerebral hemorrhage, Gingival bleeding, Epistaxis, Abnormal cerebral vascular morphology, Subarac... ORPHA:53719
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... ORPHA:199306
Autoerythrocyte Sensitization Syndrome
Ecchymosis, Menorrhagia, Intracranial hemorrhage, Erythematous plaque, Joint hemorrhage, Epistaxi... ORPHA:324636
Polycythemia Vera
Cerebral hemorrhage, Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome OMIM:263300
Familial Hyperaldosteronism Type Ii
Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:404
Familial Hyperaldosteronism Type I
Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:403
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Myocardial infarction OMIM:133100
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cerebral hemorrhage, Hypertension, Fingerpad telangiectases, Lip telangiectasia, Ischemic stroke,... OMIM:600376
Familial Hyperaldosteronism Type Iii
Hypertension, Epistaxis, Intracranial hemorrhage, Prolonged QT interval ORPHA:251274
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Intrauterine growth retardation, Prolonged prothrombin time, Neonatal death, De... OMIM:619055
Acys Amyloidosis
Cerebral hemorrhage, Death in early adulthood, Stroke ORPHA:100008
Abeta Amyloidosis, Dutch Type
Cerebral hemorrhage, Death in early adulthood, Stroke ORPHA:100006
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cerebral hemorrhage, Ischemic stroke, Conjunctival telangiectasia, Spontaneous, recurrent epistax... OMIM:610655
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Stroke, Hypotension OMIM:263400
Aspergillosis
Localized skin lesion, Stroke, Intracranial hemorrhage ORPHA:1163
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia, Petechiae OMIM:617397
Van Der Woude Syndrome
Abnormal salivary gland morphology, Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Lip... ORPHA:888
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormality of somatosensory evoked potentials, Absent brainstem auditory response... ORPHA:52368
Bannayan-Riley-Ruvalcaba Syndrome
Telangiectasia, Intracranial hemorrhage, Short stature, Nevus, Subcutaneous hemorrhage, Multiple ... ORPHA:109
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Intracranial hemorrhage, Epistaxis, Pulmonary arterial hypertension, Second degree ... ORPHA:369929
Vascular Hyalinosis
Subarachnoid hemorrhage, Hematochezia OMIM:277175
Pseudoxanthoma Elasticum, Forme Fruste
Cerebral hemorrhage, Angina pectoris, Yellow papule, Gastrointestinal hemorrhage, Retinal hemorrhage OMIM:177850
Mirage Syndrome
Intracranial hemorrhage, Intrauterine growth retardation, Short stature, Petechiae, Hydrocephalus OMIM:617053
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa telangiectasia,... OMIM:187300
Cerebral Visual Impairment
Ischemic stroke, Intracranial hemorrhage, Hydrocephalus ORPHA:447788
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Palpitations, Congestive heart failure, Pallor, Hypertension associated with... ORPHA:276621
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Wiskott-Aldrich Syndrome
Intracranial hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Recurrent intrapulmonary hemorr... ORPHA:906
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension, Death in infancy OMIM:618886
Extracranial Carotid Artery Aneurysm
Hypertension, Cerebral ischemia, Stroke, Vasculitis, Arteritis, Subarachnoid hemorrhage ORPHA:494424
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Cleft palate, Bifid uvula OMIM:303400
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Palpitations, Epistaxis ORPHA:231625
Lethal Omphalocele-Cleft Palate Syndrome
Cleft palate, Cleft soft palate, Bifid uvula, Unilateral cleft lip, Hydrocephalus ORPHA:2736
Propionic Acidemia
Cardiomyopathy, Short stature, Cerebellar hemorrhage OMIM:606054
Pheochromocytoma
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Cafe-au-lait spot, Congestive heart fail... OMIM:171300
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Prolonged prothrombin time, Congestive heart... ORPHA:99901
Menkes Disease
Intracranial hemorrhage, Intrauterine growth retardation, Spontaneous hematomas, Gastrointestinal... ORPHA:565
Osteogenesis Imperfecta, Type Xvii
Short stature, Intraventricular hemorrhage OMIM:616507
Kyphoscoliotic Ehlers-Danlos Syndrome
Cerebral hemorrhage, Antenatal intracerebral hemorrhage, Short stature, Subdural hemorrhage, Arte... ORPHA:536545
Hemorrhagic Fever-Renal Syndrome
Ecchymosis, Hypertension, Shock, Intracranial hemorrhage, Petechiae, Palpitations, Subconjunctiva... ORPHA:340
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Palpitations, Congestive heart failure, Pallor, Hypertension associated with... ORPHA:29072
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Melena, Diffuse alveolar hemorrhage, Abnormal left ventricular ... ORPHA:99827
Chronic Graft Versus Host Disease
Intermittent generalized erythematous papular rash, Erythema, Skin ulcer, Skin vesicle ORPHA:99921
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... ORPHA:206443
Kaposiform Lymphangiomatosis
Ecchymosis, Epidural hemorrhage, Subconjunctival hemorrhage, Epistaxis, Abnormal bleeding, Bruisi... ORPHA:464329
Cocaine Intoxication
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachycardia, My... ORPHA:90068
Adult Krabbe Disease
Urinary incontinence, EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Hypertension, Aortic regurgitation, Stroke, Transient ischemic attack, Hypovolemia, Subarachnoid ... ORPHA:91387
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Intracranial hemorrhage, Skin nodule, Vasculitis in the skin, Raynaud phe... ORPHA:3260
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Premature skin wrinkling, Congestive... ORPHA:363618
Parkes Weber Syndrome
Erythematous plaque, Capillary malformation, Abnormal bleeding, High-output congestive heart fail... ORPHA:90307
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Intrauterine growth retardation, Growth delay, Subdural hemorrhage, Pulmo... ORPHA:79282
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
Riddle Syndrome
Telangiectasia, Short stature, Erythema, Conjunctival telangiectasia, Intraventricular hemorrhage... ORPHA:420741
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intrauterine growth retardation, Growth delay, Intraventricular hemorrhage ORPHA:79284
Hutchinson-Gilford Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Aortic regurgitation, Pulmonary arte... ORPHA:740
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Urinary urgency, Abnormality of somatosensory evoked potenti... ORPHA:99027
Classic Homocystinuria
Hypertension, Intracranial hemorrhage, Cerebral ischemia, Subcutaneous hemorrhage, Gastrointestin... ORPHA:394
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Retinal hemorrhage, Subdural hemorrhage ORPHA:25
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Charcot-Marie-Tooth Disease Type 1F
Optic nerve hypoplasia, Absent brainstem auditory responses, Decreased nerve conduction velocity,... ORPHA:101085
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypertension, Intracranial hemorrhage, Short stature ORPHA:90795
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Antenatal intracerebral hemorrhage, Arrhythmia OMIM:608836
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Intracranial hemorrhage, Hydrocephalus, Short stature, Heart murmur ORPHA:163979
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:609136
Medulloblastoma
Hydrocephalus, Cerebellar hemorrhage ORPHA:616
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Long philtrum ORPHA:2211
Nelson Syndrome
Hypertension, Intracranial hemorrhage, Striae distensae ORPHA:199244
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocit... ORPHA:206436
Cockayne Syndrome Type 1
Optic atrophy, Absent brainstem auditory responses, Macrotia, Hearing impairment, Abnormality of ... ORPHA:90321
Hydranencephaly
Abnormal cerebral artery morphology, Postnatal growth retardation, Antenatal intracerebral hemorr... ORPHA:2177
Hellp Syndrome
Prolonged prothrombin time, Internal hemorrhage, Hypotension, Cerebral hemorrhage ORPHA:244242
Trisomy 10P
Low voltage EEG, Abnormal auditory evoked potentials, Macrotia, Posteriorly rotated ears, EEG wit... ORPHA:171929
Arachnoid Cyst
Holoprosencephaly, Hydrocephalus, Subarachnoid hemorrhage ORPHA:2356
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus ORPHA:91350
Osteogenesis Imperfecta
Cerebral hemorrhage, Cutis laxa, Intrauterine growth retardation, Short stature, Growth delay, Ao... ORPHA:666
Cockayne Syndrome Type 3
Mild postnatal growth retardation, Subdural hemorrhage, Cardiomyopathy, Increased blood pressure,... ORPHA:90324
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Pulmonic stenosis, Sacral dimple, Spina bifida, Hydrocephalus, Postnatal growth r... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Pulmonic stenosis, Sacral dimple, Spina bifida, Hydrocephalus, Postnatal growth r... ORPHA:363958
Dpagt1-Cdg
Skin dimple, Intracranial hemorrhage, Prolonged QT interval, Stroke-like episode ORPHA:86309
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... OMIM:216400
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... OMIM:133540
Acute Liver Failure
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal... ORPHA:90062
Cerebrotendinous Xanthomatosis
Optic atrophy, Optic neuropathy, Abnormal auditory evoked potentials, Optic disc pallor, Abnormal... ORPHA:909
Mogs-Cdg
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses ORPHA:79330
Superficial Siderosis
Abnormal bleeding, Internal hemorrhage, Persistent bleeding after trauma, Subarachnoid hemorrhage ORPHA:247245
Meningioma
Cerebral hemorrhage, Syncope, Hydrocephalus ORPHA:2495
Loeys-Dietz Syndrome 3
Atrial fibrillation, Mitral regurgitation, Tortuous cerebral arteries, Atrophic scars, Dilatation... OMIM:613795
Acute Transverse Myelitis
Orthostatic hypotension, Hypertension, Subarachnoid hemorrhage ORPHA:139417
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebral hemorrhage, Corneal neovascularization, Hydrocephalus, Ischemic stroke OMIM:175780
Viss Syndrome
Epidural hemorrhage, Cutis laxa, Short stature, Tortuous cerebral arteries, Dilatation of the cer... OMIM:619472
Mend Syndrome
Abnormal auditory evoked potentials ORPHA:401973
Familial Cerebral Cavernous Malformation
Cerebral hemorrhage ORPHA:221061
Pmm2-Cdg
Hypertrophic cardiomyopathy, Intracranial hemorrhage, Pericarditis, Angina pectoris ORPHA:79318
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Intrauterine growth retardation, Arterial rupture, Postnatal growth retardation, Dilatation of th... 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.

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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

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