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Gene: Pdia3 MGI:95834

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Gene Summary

Name:
protein disulfide isomerase associated 3
Synonyms:
ERp57,  PDI-Q2,  ERp60,  Grp58,  Plca,  PDI,  Erp,  ERp61

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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
preweaning lethality, complete penetrance Pdia3em1(IMPC)Hmgu HOM   Early adult 1.79×10-08
abnormal coat/ hair morphology Pdia3em1(IMPC)Hmgu HET Early adult 3.17×10-05

Download data as:  TSV  XLS

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

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Pdia3 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 Pdia3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Gnathodiaphyseal Dysplasia
Osteopenia, Thickened cortex of long bones ORPHA:53697
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Caffey Disease
Calvarial hyperostosis, Subperiosteal bone formation, Cortical irregularity, Periosteal thickenin... OMIM:114000
Caffey Disease
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... ORPHA:1310
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Eiken Syndrome
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Thin bony cortex, Abnormal ... ORPHA:79106
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density ORPHA:970
Osteochondrosis Of The Metatarsal Bone
Thickened cortex of bones, Sclerosis of foot bone ORPHA:564003
Familial Expansile Osteolysis
Osteolysis, Thin bony cortex OMIM:174810
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure ORPHA:83451
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology ORPHA:166277
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Proteus Syndrome
Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex OMIM:176920
Pyle Disease
Thin bony cortex, Reduced bone mineral density OMIM:265900
Metatropic Dysplasia
Coarse metaphyseal trabecularization, Abnormal cortical bone morphology, Abnormal enchondral ossi... ORPHA:2635
Cranio-Osteoarthropathy
Abnormal cortical bone morphology ORPHA:1525
Ck Syndrome
Abnormal cortical bone morphology OMIM:300831
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex OMIM:600081
Grant Syndrome
Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Hypophosphatemic Rickets, X-Linked Recessive
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemic ... OMIM:300554
Osteogenesis Imperfecta, Type Xxii
Thin bony cortex, Reduced bone mineral density OMIM:619795
Gorham-Stout Disease
Osteopenia, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving bones... ORPHA:73
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemic rickets, Thin ... OMIM:241530
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology ORPHA:1486
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Dent Disease 1
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex OMIM:300009
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex OMIM:264700
Weismann-Netter Syndrome
Abnormal cortical bone morphology ORPHA:3344
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex OMIM:277440
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex ORPHA:289157
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Generalized osteoporosis OMIM:617952
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Melnick-Needles Syndrome
Craniofacial hyperostosis, Abnormal cortical bone morphology, Osteolytic defects of the phalanges... ORPHA:2484
Dent Disease
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex ORPHA:1652
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology OMIM:614886
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Reduced bone mineral density ORPHA:2909
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O... ORPHA:249
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology ORPHA:221008
Pachydermoperiostosis
Abnormal cortical bone morphology, Osteoporosis, Osteolysis ORPHA:2796
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology ORPHA:221016
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Osteoporosis, Osteolysis involving tarsal bones, Metatarsal osteolysis, Metacarpal os... OMIM:259600
Gm1-Gangliosidosis, Type Ii
Thin bony cortex OMIM:230600
Oculodentodigital Dysplasia
Hyperostosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:2710
Osteogenesis Imperfecta, Type X
Osteopenia, Decreased calvarial ossification, Thin bony cortex OMIM:613848
Familial Osteodysplasia, Anderson Type
Abnormal cortical bone morphology ORPHA:2769
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Cranial hyperostosis, Osteopetrosis, Facial hyperostosis, Abnorma... ORPHA:2658
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Osteoporosis, Thin bony cortex OMIM:309583
Stüve-Wiedemann Syndrome
Osteopenia, Abnormal cortical bone morphology, Osteoporosis, Thickened cortex of long bones ORPHA:3206
Faciocardiomelic Syndrome
Osteopenia, Thin bony cortex OMIM:612731
Weill-Marchesani Syndrome 1
Thin bony cortex OMIM:277600
Spondyloocular Syndrome
Osteopenia, Thin bony cortex OMIM:605822
Frank-Ter Haar Syndrome
Osteopenia, Osteoporosis, Cortical irregularity OMIM:249420
Craniotubular Dysplasia, Ikegawa Type
Sclerosis of skull base, Thin bony cortex OMIM:619727
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Rickets, Thin bony cortex, Reduced bone mineral density OMIM:613658
Weill-Marchesani Syndrome 2
Thin bony cortex OMIM:608328
Osteogenesis Imperfecta
Osteopenia, Abnormal cortical bone morphology, Decreased skull ossification, Osteoporosis ORPHA:666
Aspartylglucosaminuria
Abnormal cortical bone morphology ORPHA:93

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 Pdia3

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 Pdia3.

No publications found that use IMPC mice or data for Pdia3.

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
Pdia3em1(IMPC)Hmgu Exon Deletion Mice
Pdia3tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Pdia3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Pdia3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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