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Gene: Clec3a MGI:2685642

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Gene Summary

Name:
C-type lectin domain family 3, member a
Synonyms:
1110019O10Rik,  LOC330844,  Clecsf1

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
increased lean body mass Clec3aem1(IMPC)J HOM Early adult 4.60×10-08
absent vibrissae Clec3aem1(IMPC)J HOM Early adult 1.67×10-05
increased bone mineral density Clec3aem1(IMPC)J HOM Early adult 3.89×10-06
hyperactivity Clec3aem1(IMPC)J HOM Early adult 7.31×10-06
abnormal auditory brainstem response Clec3aem1(IMPC)J HOM   Early adult 2.02×10-05
decreased total body fat amount Clec3aem1(IMPC)J HOM Early adult 2.70×10-08

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Forepaw

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Electroretinography 3

Fundus file

4 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Electrocardiogram (ECG)

Waveform Image

16 Images

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Human diseases caused by Clec3a 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Clec3a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Buschke-Ollendorff Syndrome
Connective tissue nevi, Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Melorheostosis With Osteopoikilosis
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Optic atrophy from cranial nerve compressio... OMIM:239100
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Failure to thrive, Clavicular sclerosis OMIM:615198
Hyperostosis Corticalis Generalisata
Facial palsy, Generalized osteosclerosis, Sensorineural hearing impairment, Cranial hyperostosis,... ORPHA:3416
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Flynn-Aird Syndrome
Increased bone mineral density, Alopecia, Joint stiffness, Osteoporosis, Increased bone density w... OMIM:136300
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Schizophrenia 15
Hyperactivity OMIM:613950
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Facial palsy, Craniosynostosis, Optic atrophy, Hearing impairment ORPHA:178377
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Polyphagia, Obesity OMIM:618406
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Sensorineural hearing impair... ORPHA:2790
Melorheostosis
Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Hyperostosis, Arthrit... ORPHA:2485
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Facial palsy, Sensorineural hearing im... ORPHA:3152
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Sensorineural hearing impairment, Rickets, Hypo... OMIM:241520
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Low-set ears ORPHA:436151
Ravine Syndrome
Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Trichodentoosseous Syndrome
Abnormal hair morphology, Increased bone mineral density OMIM:190320
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Papilledema, Cortical sclerosis, Craniofacial osteosclerosis, Optic at... OMIM:122860
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Continuous spike and waves during slow sleep, Impulsivity, Attention deficit hyper... OMIM:301008
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Osteopetrosis, Conductive hearing impairment, Calvarial osteosclerosi... OMIM:607634
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia OMIM:619970
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Fractures of the long bones, General... OMIM:166600
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... OMIM:617519
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity, Hypsarrhythmia OMIM:617113
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Cranial nerve... ORPHA:210110
Endosteal Hyperostosis, Autosomal Dominant
Sensorineural hearing impairment, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavic... OMIM:144750
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Hyperprolinemia, Type I
EEG abnormality, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Osteopetrosis, Autosomal Recessive 9
Papilledema, Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture OMIM:620366
Coffin-Siris Syndrome 8
Sparse scalp hair, Hyperactivity, Inguinal hernia, Aggressive behavior, Self-injurious behavior, ... OMIM:618362
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Abcd Syndrome
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Large... OMIM:600501
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Gen... OMIM:614856
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Increased bone mineral density, Facial palsy, Recurrent fractures, Optic atrop... OMIM:611490
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Optic atrophy, Elbow flexion contracture, Abnormal repetitive... OMIM:619470
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Failure to thrive, Posteriorly rotated ears, Small for gestational age, Aggressive... OMIM:609425
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Failure to thrive, Facial palsy, Craniosynostosis,... OMIM:259700
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal dental enamel morphology, Rec... ORPHA:1782
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Facial palsy, Sensorineural hearing impairment, Osteopetrosis, Conduct... ORPHA:1522
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis, Hearing impairment OMIM:167250
Lennox-Gastaut Syndrome
EEG abnormality, Hyperactivity, EEG with focal sharp slow waves, Aggressive behavior ORPHA:2382
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Limitation of joint mobility, Abnormal vertebral segmentation and... ORPHA:90650
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Diastrophic Dysplasia
Low-set, posteriorly rotated ears, Increased bone mineral density, Camptodactyly of finger, Joint... ORPHA:628
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Generalized osteoscle... ORPHA:53
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... OMIM:619827
Camurati-Engelmann Disease
Reduced subcutaneous adipose tissue, Increased bone mineral density, Cranial nerve compression, D... OMIM:131300
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Synophrys, Macrotia, Abnormal repetitive man... OMIM:615541
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, EEG abnormality, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetiti... OMIM:618718
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Posteriorly rotated ears, Congenital sensorineural hearing impair... OMIM:617306
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Sensori... OMIM:239000
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Facial palsy, Optic atrophy, Osteopetrosis OMIM:615085
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... OMIM:601455
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial nerve compression, Cranial ... OMIM:259710
Mucopolysaccharidosis, Type Iiia
Inguinal hernia, Hyperactivity, Joint stiffness, Synophrys, Coarse hair, Umbilical hernia, Dense ... OMIM:252900
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... ORPHA:52368
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Hypopigmentation of hair, Obesity, EEG abnormality, Inappropriate laughter, Polyph... ORPHA:411515
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Arthrogryposis, Distal, Type 2A
Hip contracture, Flexion contracture of finger, Inguinal hernia, Failure to thrive, Recurrent fra... OMIM:193700
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Tricho-Dento-Osseous Syndrome
Abnormal hair quantity, Increased bone mineral density, Enamel hypomineralization, Dental enamel ... ORPHA:3352
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Prominent crus of helix, Obesity, Attention deficit hyperacti... OMIM:301013
Werner Syndrome
Sparse scalp hair, Increased bone mineral density, Lipoatrophy, Lipodystrophy, Joint stiffness, A... ORPHA:902
Fg Syndrome 3
Hyperactivity, Sensorineural hearing impairment, Fine hair, Frontal upsweep of hair, Sparse hair,... OMIM:300406
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Joint stiffness, Synophrys, Coarse hair, Dense calvaria, Hirs... OMIM:252920
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Synovitis, Increase... ORPHA:77297
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Frequent temper tantrums, Atten... OMIM:620141
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Joint stiffness, Synophrys, Hypertrichosis, Coarse hair, Hernia, Dysphagia, Dense ... OMIM:252930
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Uplifted earlobe, Impulsivity, Synophrys, Joint hypermobility OMIM:300143
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Posteriorly rotated ears, Facial palsy, Osteopetrosis, Low-set ea... ORPHA:2780
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification ORPHA:163649
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Long eyelashes, Abnormal auditory evoked potentials, Low posterior hairline OMIM:617523
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Curly hair, Increased bone mineral density, Thin bony cortex ORPHA:85184
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Congenital sensorineural hearing impairment, Sensorineu... ORPHA:73272
Poems Syndrome
Sclerosis of hand bone, Papilledema, Lipodystrophy, Sclerosis of foot bone, Leukonychia, Weight l... ORPHA:2905
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Joint contracture, Failure to thrive, Optic atrophy OMIM:616881
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... ORPHA:206443
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Beemer-Ertbruggen Syndrome
Low-set, posteriorly rotated ears, Increased bone mineral density ORPHA:1237
Pycnodysostosis
Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Increased s... ORPHA:763
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Optic atrophy, Diaphyseal sclerosis, L... OMIM:618476
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Optic atrophy, Increased susceptibility t... OMIM:224300
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Anorexia, Osteoarthritis, Osteolysis, Pathologic frac... ORPHA:77259
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, EEG with generalized polyspikes, Aggressive behavior, Obesity, EEG with generalize... ORPHA:163681
Insulin-Like Growth Factor I Deficiency
Osteopenia, Sensorineural hearing impairment, Hyperactivity, Decreased body weight OMIM:608747
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Neurodevelopmental Disorder With Or Without Autism Or Seizures
EEG with burst suppression, Hyperactivity, Failure to thrive, Hypsarrhythmia OMIM:619239
Schwartz-Jampel Syndrome
Low anterior hairline, Wrist flexion contracture, Generalized hirsutism, Low-set, posteriorly rot... ORPHA:800
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Synophrys OMIM:619260
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Osteopetrosis ORPHA:3240
Trichothiodystrophy
Osteopenia, Sparse scalp hair, Increased bone mineral density, Multiple joint contractures, Britt... ORPHA:33364
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, Hyperactivity, Hypopigmentation of hair, EEG with abnormally sl... ORPHA:98794
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Desmosterolosis
Low-set, posteriorly rotated ears, Increased bone mineral density, Abnormal earlobe morphology, L... ORPHA:35107
Otopalatodigital Syndrome Type 2
Omphalocele, Increased bone mineral density, Failure to thrive, Abnormal pinna morphology, Campto... ORPHA:90652
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog... ORPHA:2658
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Increased bone mineral density, Facial palsy, Cranial hyperostosis, Optic atro... OMIM:259720
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Dry hair, Abnormal pinna morphology, Small for gestational a... OMIM:133540
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sensorineural hearing impairment, ... ORPHA:89936
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density, Abnormal dental enamel mo... ORPHA:1798
Raine Syndrome
Increased bone mineral density, Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinn... OMIM:259775
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Restless legs, Optic nerve hypoplasia, Decreased nerve condu... ORPHA:101085
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Cerebrotendinous Xanthomatosis
Osteopenia, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased n... ORPHA:909
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis,... ORPHA:94089
Atypical Werner Syndrome
Sclerosis of hand bone, Abnormal hair whorl, Reduced bone mineral density, Premature graying of h... ORPHA:79474
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Hyperactivity, Osteomyelitis, Corneal scarring, Abnormal autonomic nervous sys... OMIM:256800
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Sensorineural hearing impairment, Obesity, Reduced bone mineral d... ORPHA:79443
12Q14 Microdeletion Syndrome
Osteopoikilosis, Failure to thrive, Thick eyebrow, Synophrys ORPHA:94063
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity disorder, Ab... OMIM:610042
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Osteopetrosis OMIM:618541
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Failure to thrive, Foot joint contracture, Scarring, Optic a... ORPHA:90321
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Dry hair, Abnormal pinna morphology, Abnorm... OMIM:216400
Desmosterolosis
Failure to thrive, Posteriorly rotated ears, Generalized osteosclerosis, Cupped ear, Low-set ears... OMIM:602398
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, White eyelashes, Aganglionic megacolon, White eyebrow, Short... OMIM:609136
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss, Polydipsia ORPHA:35687
Kenny-Caffey Syndrome, Type 2
Papilledema, Increased bone mineral density, Small for gestational age, Thickened cortex of long ... OMIM:127000
Trisomy 10P
Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked potentials, EEG wit... ORPHA:171929
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... ORPHA:206436
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... ORPHA:355
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Obesity, Ectopic ossification, Enamel hypoplasia, Polyphagia ORPHA:79444
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis, Optic nerve compression OMIM:259730
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Optic atrophy, Optic neuropathy OMIM:259900
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Mogs-Cdg
Absent brainstem auditory responses, Alopecia, Sensorineural hearing impairment, Optic atrophy, L... ORPHA:79330
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Low-set ears, Failure to... ORPHA:401973
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Low-set ears, Posteriorly rotated ears, Patchy osteosclerosis OMIM:241410
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, External ear malformation, Abnormal dental enamel morphology, ... ORPHA:2323
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Cleidocranial Dysplasia 1
Increased bone mineral density, Increased susceptibility to fractures, Delayed pubic bone ossific... OMIM:119600
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints, Low-set ears ORPHA:50945
Gaucher Disease Type 3
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures ORPHA:77261
Primary Hyperoxaluria
Optic disc pallor, Recurrent fractures, Generalized osteosclerosis, Optic atrophy, Failure to thrive ORPHA:416
Sclerosteosis 1
Papilledema, Facial palsy, Sclerotic scapulae, Optic atrophy, Facial palsy secondary to cranial h... OMIM:269500
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Inguinal hernia, Low-set, posteriorly r... ORPHA:904
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Abnormality of hair texture, Reduced bone mineral density,... ORPHA:667
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Optic nerve compression, Optic atrophy, Osteopetrosis OMIM:612301
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Hypsarrhythmia, Sclerosis of skull base, Hypoplastic nipples, Lo... OMIM:269150
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Recurrent fractures, Cranial nerve compression, Optic atrophy, Osteopetrosis, ... ORPHA:2785
Histidinemia
Hyperactivity ORPHA:2157

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 Clec3a

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 Clec3a.

No publications found that use IMPC mice or data for Clec3a.

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MGI Allele Allele Type Produced
Clec3aem1(IMPC)J Exon Deletion Mice

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