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Gene: Osbpl3 MGI:1918970

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Gene Summary

Name:
oxysterol binding protein-like 3
Synonyms:
1200014M06Rik,  ORP3,  6720421I08Rik,  OSBP3

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 bone mineral density Osbpl3tm1a(EUCOMM)Wtsi HOM Early adult 1.01×10-05
increased lean body mass Osbpl3tm1a(EUCOMM)Wtsi HOM Early adult 2.43×10-05
decreased total body fat amount Osbpl3tm1a(EUCOMM)Wtsi HOM Early adult 1.45×10-06
increased bone mineral content Osbpl3tm1a(EUCOMM)Wtsi HOM Early adult 4.63×10-07

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

18 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Forepaw

15 Images

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Eye Morphology

Images Ophthalmoscopy

5 Images

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DSS Histology

Images

8 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Osbpl3tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Osbpl3tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Osbpl3tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Osbpl3tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Osbpl3tm1a(EUCOMM)Wtsi
HOM, Female, WTSI

View all 75 images

Osbpl3tm1a(EUCOMM)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI
Osbpl3tm1a(EUCOMM)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI
Osbpl3tm1a(EUCOMM)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI
Osbpl3tm1a(EUCOMM)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI
Osbpl3tm1a(EUCOMM)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI

Human diseases caused by Osbpl3 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 Osbpl3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Connective tissue nevi, Osteopoikilosis OMIM:166700
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis, Failure to thrive OMIM:615198
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Melorheostosis
Increased bone mineral density, Arthritis, Joint stiffness, Failure to thrive, Hyperostosis, Atyp... ORPHA:2485
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis ORPHA:3416
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis OMIM:241520
Isolated Osteopoikilosis
Tarsal sclerosis, Abnormal bone ossification, Keloids, Increased bone mineral density, Sclerosis ... ORPHA:166119
Distal Osteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis OMIM:126250
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Flynn-Aird Syndrome
Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste... OMIM:136300
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Osteochondrosis Of The Metatarsal Bone
Arthritis, Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones ORPHA:564003
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures OMIM:166740
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis OMIM:607634
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Arthritis, Joint stiffness, Knee osteoa... ORPHA:566943
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, Clavicular sclerosis, ... OMIM:144750
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Mandibular osteomyelitis, Os... OMIM:166600
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis OMIM:122860
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Intermediate Osteopetrosis
Increased susceptibility to fractures, Osteomyelitis, Recurrent fractures, Generalized osteoscler... ORPHA:210110
Buschke-Ollendorff Syndrome
Flexion contracture, Recurrent fractures, Craniosynostosis, Arthritis, Osteopoikilosis, Generaliz... ORPHA:1306
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis OMIM:231095
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Paget Disease Of Bone 3
Osteolysis, Patchy osteosclerosis, Fractures of the long bones OMIM:167250
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Decreased body weight, Recurrent fractures, Increased bone mineral den... OMIM:614856
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Dysosteosclerosis
Recurrent fractures, Increased bone mineral density, Coarse metaphyseal trabecularization, Cranio... ORPHA:1782
Osteopetrosis, Autosomal Recessive 1
Osteomyelitis, Calvarial osteosclerosis, Increased bone mineral density, Pathologic fracture, Fai... OMIM:259700
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Abnorma... ORPHA:90650
Majeed Syndrome
Increased susceptibility to fractures, Flexion contracture, Osteomyelitis, Weight loss, Increased... ORPHA:77297
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Increased bone mineral density, Enamel hypomineralization ORPHA:3352
Diastrophic Dysplasia
Camptodactyly of finger, Increased bone mineral density, Joint stiffness, Joint hyperflexibility ORPHA:628
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Arthritis, Generalized osteosclerosis, Mandibular osteomyelit... ORPHA:53
Spondyloepiphyseal Dysplasia Tarda
Limited elbow movement, Hip osteoarthritis, Increased bone mineral density, Synovitis, Osteoarthr... ORPHA:93284
Camurati-Engelmann Disease
Reduced subcutaneous adipose tissue, Increased bone mineral density, Cortical thickening of long ... OMIM:131300
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Osteopetrosis OMIM:615085
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis... ORPHA:85188
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Increased bone mineral density, Ankylosis, Failure to thrive, Macular scar, ... OMIM:239000
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Decreased osteoclast count, Diaphyseal sclerosis, Mandibular ... OMIM:259710
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification ORPHA:163649
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... OMIM:601376
Werner Syndrome
Increased bone mineral density, Joint stiffness, Lipodystrophy, Slender build, Lipoatrophy, Chond... ORPHA:902
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Increased bone mineral density, Osteopenia ORPHA:85184
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Pycnodysostosis
Enamel hypoplasia, Increased susceptibility to fractures, Coronal craniosynostosis, Increased bon... ORPHA:763
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Osteopetrosis, Facial hyperostosis, Coarse metaphyseal trabecular... ORPHA:2780
Gaucher Disease Type 1
Increased bone mineral density, Osteolysis, Osteopenia, Pathologic fracture, Osteoarthritis ORPHA:77259
Poems Syndrome
Weight loss, Sclerosis of foot bone, Lipodystrophy, Sclerosis of hand bone, Sclerosis of skull base ORPHA:2905
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Enthesitis, Increased bone mineral density, Abnormal trabecular bone ... ORPHA:289176
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices, Abnormal dental enamel mo... ORPHA:1798
Dysosteosclerosis
Increased susceptibility to fractures, Sclerotic scapulae, Clavicular sclerosis, Osteopenia, Scle... OMIM:224300
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Enamel hypoplasia, Increased bone mineral density, Di... ORPHA:94089
X-Linked Hypophosphatemia
Vertebral hyperostosis, Cellulitis, Enthesitis, Arthritis, Odontodysplasia, Generalized osteoscle... ORPHA:89936
Desmosterolosis
Increased bone mineral density, Osteopetrosis, Failure to thrive ORPHA:35107
Lenz-Majewski Hyperostotic Dwarfism
Osteopetrosis, Increased bone mineral density, Elbow ankylosis, Abnormal cortical bone morphology... ORPHA:2658
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Increased bone mineral density, Synostosis of carpal bones, Carpal synos... ORPHA:90652
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification OMIM:618476
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Trichothiodystrophy
Enamel hypoplasia, Multiple joint contractures, Increased bone mineral density, Osteopenia, Crani... ORPHA:33364
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count OMIM:259720
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Diaphyseal sclerosis, Osteopetrosis OMIM:259730
Schwartz-Jampel Syndrome
Wrist flexion contracture, Hip contracture, Decreased body weight, Flexion contracture of toe, In... ORPHA:800
12Q14 Microdeletion Syndrome
Failure to thrive, Osteopoikilosis ORPHA:94063
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Increased bone mineral density, Small for gestational age OMIM:127000
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Raine Syndrome
Enamel hypoplasia, Increased bone mineral density, Subperiosteal bone formation, Arthrogryposis m... OMIM:259775
Desmosterolosis
Failure to thrive, Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contract... OMIM:602398
Erdheim-Chester Disease
Weight loss, Increased bone mineral density, Osteomyelitis, Osteolysis ORPHA:35687
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Ectopic ossification, Hyperostosis frontalis interna, Increased bone mineral d... ORPHA:79443
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Increased bone mineral density, Obesity, Ectopic ossification ORPHA:79444
Atypical Werner Syndrome
Osteolytic defects of the phalanges of the hand, Decreased body weight, Increased bone mineral de... ORPHA:79474
Gaucher Disease
Osteomyelitis, Recurrent fractures, Increased bone mineral density, Osteolysis, Osteopenia, Abnor... ORPHA:355
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Osteopetrosis ORPHA:3240
Gaucher Disease Type 3
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures ORPHA:77261
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Abnormal dental enamel morphology ORPHA:2323
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Enamel hypoplasia, Increased bone mineral density, Increased sus... OMIM:119600
Primary Hyperoxaluria
Failure to thrive, Recurrent fractures, Generalized osteosclerosis ORPHA:416
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Williams Syndrome
Increased bone mineral density, Radioulnar synostosis, Joint laxity, Synostosis of joints, Inguin... ORPHA:904
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... OMIM:269500
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Craniosynostosis, Recurrent fractures, Reduced bone mineral density ORPHA:667
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Osteopetrosis, Recurrent fractures ORPHA:2785
Schinzel-Giedion Midface Retraction Syndrome
Thickened cortex of long bones, Failure to thrive, Sclerosis of skull base, Increased density of ... OMIM:269150

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 Osbpl3

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 Osbpl3.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Osbpl3tm1a(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Osbpl3tm1a(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Osbpl3tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Osbpl3tm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017)