Gene Summary

Name:
protein kinase D3
Synonyms:
4930557O20Rik,  Prkcn,  5730497N19Rik,  PKD3

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
decreased total retina thickness Prkd3tm1b(EUCOMM)Wtsi HET   Early adult 1.62×10-05
increased circulating aspartate transaminase level Prkd3tm1b(EUCOMM)Wtsi HET Early adult 5.92×10-05
preweaning lethality, incomplete penetrance Prkd3tm1b(EUCOMM)Wtsi HOM   Early adult 0.000626
decreased circulating HDL cholesterol level Prkd3tm1b(EUCOMM)Wtsi HET   Early adult 3.22×10-05
decreased circulating cholesterol level Prkd3tm1b(EUCOMM)Wtsi HET   Early adult 1.27×10-05
abnormal retina blood vessel morphology Prkd3tm1b(EUCOMM)Wtsi HET Early adult 6.31×10-05

Download data as:  TSV  XLS

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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.

Phenotype associated images not available

Human diseases caused by Prkd3 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 Prkd3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Dwarfism With Tall Vertebrae
Increased vertebral height, Coxa vara OMIM:126950
Osteomesopyknosis
Sclerotic vertebral body, Abnormal cortical bone morphology, Abnormal form of the vertebral bodie... ORPHA:2777
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hyperconvex vertebral body endplates, Corner fracture of metaphysis, Scoliosis, Coxa vara, Ovoid ... OMIM:184255
Eiken Syndrome
Fibular hypoplasia, Abnormal bone ossification, Delayed epiphyseal ossification, Epiphyseal dyspl... ORPHA:79106
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Vertebral wedging, Flat acetabular roof, Epiphyseal dysplasia, Hypopl... OMIM:617719
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim... OMIM:600785
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... OMIM:118005
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia... OMIM:156500
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Pear-shaped vertebrae, Femoral bowing, Tibial bowing, Short l... ORPHA:93356
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, Arthralgia of the hip, Cox... OMIM:609324
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga, Short greater sciatic notch OMIM:271620
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Scoliosis, Horizontal sacrum, Calvarial hyperostosis, Kyp... OMIM:112350
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Scoliosis, Vertebral segmentation defect, Abnormality of the hum... ORPHA:1570
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Decreased LDL cholest... OMIM:615558
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal bone ossification, Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal tr... ORPHA:1952
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Genu valgum, Flat capital femoral epiphysis, Intervertebral space narrowing, Scoliosis, Thoracic ... OMIM:609223
Epiphyseal Dysplasia, Multiple, 6
Flat distal femoral epiphysis, Irregular epiphyses, Flat capital femoral epiphysis, Small epiphys... OMIM:614135
Autosomal Dominant Brachyolmia
Abnormal metaphysis morphology, Increased vertebral height, Platyspondyly, Kyphoscoliosis ORPHA:93304
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Spondylocostal Dysostosis 6, Autosomal Recessive
Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Squared-off platyspondyly, Lumbar hypolordosis, Osteopenia, Platyspondyly, Int... OMIM:271530
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa... OMIM:102510
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta, Brachydactyly ORPHA:2956
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Primary Basilar Invagination
Short neck, Abnormal vertebral morphology, Abnormality of the cervical spine ORPHA:2285
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon... ORPHA:2790
Pseudoachondroplasia
Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Hypoplastic pelvis,... ORPHA:750
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis,... OMIM:602111
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper... ORPHA:75508
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Flared metaphysis, Short middle phalanx of the 5th finger, Multiple small vertebral fractures, Os... OMIM:156510
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Hypoplasia of the femoral head, Short humerus, Short ... OMIM:619598
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Bilateral coxa valga, Abnormal ilium morphology, Abnormal vertebral morphology ORPHA:163665
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Spinal rigidity, Abnormal vertebral morphology, Clinoda... ORPHA:337
Hypochondroplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal form of the vertebral bodies,... ORPHA:429
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Increased bone mineral density, Cortical thickening of long bone d... OMIM:166740
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Coxa vara, Thoracolumbar scoliosis, Thoracic he... OMIM:601344
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ... ORPHA:83468
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing, Small epiphyses, Platys... OMIM:608728
Osteoarthritis With Mild Chondrodysplasia
Beaking of vertebral bodies, Heberden's node, Irregular vertebral endplates, Platyspondyly, Schmo... OMIM:604864
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Abnormal form of the vertebral bodies, Abnormal pelvis bo... ORPHA:1426
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Rhizomelia, Femoral bowing, Thoracic kyphosis, Broad thumb, Platyspondyly, ... OMIM:619638
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Beaking of vertebral bodies, Mesomelic arm shortening, Cone-shaped ... OMIM:609616
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... OMIM:601438
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Hypero... OMIM:144750
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Retinal dystrophy, Elevated circulating phytanic acid concentration, Hypocholesterol... OMIM:266510
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... ORPHA:891
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Rhizomelic Chondrodysplasia Punctata, Type 3
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Spondyloepimetaphyseal Dysplasia, Shohat Type
Fibular overgrowth, Squared-off platyspondyly, Abnormal vertebral morphology, Platyspondyly, Gene... ORPHA:93352
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... ORPHA:93314
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp... ORPHA:2635
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Sillence Syndrome
Large iliac wing, Flat acetabular roof, Broad metatarsal, Broad thumb, Abnormal morphology of the... ORPHA:3168
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the... ORPHA:2064
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing, Femoral bowing, Sparse b... OMIM:600081
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Scoliosis, Femoral bowing OMIM:615066
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing... OMIM:300554
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Scoliosis, Femoral bowing, Osteoporosis, Platyspondyly OMIM:126550
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Hemivertebrae, Vertebral clefting, Vertebral segmentation defect OMIM:608681
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Sclerotic vertebral endplates, Rickets of the lower l... ORPHA:289176
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Vertebral compression fracture, Flared metaphysis, Delayed epiphyse... OMIM:602557
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Chylomicron Retention Disease
Retinopathy, Hypocholesterolemia, Steatorrhea ORPHA:71
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters... ORPHA:40923
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing... OMIM:241530
Squalene Synthase Deficiency
Optic nerve hypoplasia, Increased circulating farnesol concentration, Elevated circulating methyl... OMIM:618156
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Decrease... ORPHA:96180
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormal vertebral morphology, Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Cervic... ORPHA:93346
Otospondylomegaepiphyseal Dysplasia
Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal ve... ORPHA:1427
Acromesomelic Dysplasia 1
Beaking of vertebral bodies, Hypoplasia of the radius, Broad finger, Short metatarsal, Cone-shape... OMIM:602875
Paget Disease Of Bone 2, Early-Onset
Vertebral compression fracture, Sandwich appearance of vertebral bodies, Osteosclerosis of the ul... OMIM:602080
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing, Femoral bowing, Sparse b... OMIM:264700
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Biconvex vertebral bodies, Reduced bone mineral density, Hypoplastic ... ORPHA:93315
Dent Disease 1
Rickets, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing, Femoral bowing, Sparse b... OMIM:300009
Vitamin D-Dependent Rickets, Type 2A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing, Femoral bowing, Sparse b... OMIM:277440
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped metaphyses of hand bones, ... OMIM:307800
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Short long bone, Femoral bowing, Hyperlordosis, Kyphosis, Metaphyseal irregularity, Thoracic plat... OMIM:618019
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Femoral bowing, Bowing of the long bones, Biconcave vertebral bod... OMIM:617952
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Conjugated hyperbilirubinemia, Steatorrhea OMIM:607765
Osteogenesis Imperfecta, Type Viii
Osteopenia, Vertebral compression fracture, Slender long bone, Femoral retroversion, Scoliosis, T... OMIM:610915
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Short long bone, Hyperlordosis,... ORPHA:457395
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Hip subluxation, Genu valgum, Platyspondyly, Broad middle phalanx of... OMIM:618853
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Carpal bone hypoplasia, Small epiphyses, Craniosynostosis, Scoliosis, Femoral bowing,... OMIM:616723
Vitreoretinochoroidopathy
Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti... OMIM:193220
Bent Bone Dysplasia Syndrome 2
Osteopenia, Butterfly vertebrae, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic... OMIM:620076
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Florid Cemento-Osseous Dysplasia
Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology ORPHA:83451
Bruck Syndrome 2
Platyspondyly, Femoral bowing, Talipes equinovarus, Osteopenia OMIM:609220
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Metaphyseal widening, Brachyda... ORPHA:440354
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Geroderma Osteodysplasticum
Kyphoscoliosis, Beaking of vertebral bodies, Osteopenia, Vertebral compression fracture, Hyperext... OMIM:231070
Achondroplasia
Narrow greater sciatic notch, Rhizomelia, Ulnar bowing, Flared metaphysis, Femoral bowing, Triden... OMIM:100800
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, S... OMIM:608940
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hyperbilirubinemia, Ab... ORPHA:14
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Foot polydactyly, Phocomelia, Vertebral segmentation defect, Split hand ORPHA:3004
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Reduced bone mineral density, Wide distal femoral metaphysis, Dislocated radial h... OMIM:614856
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b... OMIM:211350
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Delayed epiphyseal ossification, Osteomalacia, Tibial bowing, Femoral bowing, Thin bony ... ORPHA:289157
Thanatophoric Dysplasia, Type I
Platyspondyly, Short greater sciatic notch, Flared metaphysis, Short long bone, Femoral bowing, B... OMIM:187600
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Rod-cone dystrophy, Steatorrhea OMIM:212065
Osteogenesis Imperfecta, Type Iv
Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Scoliosis... OMIM:166220
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Short greater sciatic notch, Femoral bowing, Split hand, Bowing o... ORPHA:1860
Alg12-Cdg
Retinal detachment, Hyponatremia, Hypocholesterolemia, Hypoalbuminemia ORPHA:79324
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Scoliosis, Short long bone, Fem... OMIM:613091
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Lipemia retina... OMIM:238600
Rothmund-Thomson Syndrome Type 1
Finger symphalangism, Abnormal ulnar metaphysis morphology, Osteopenia, Patellar hypoplasia, Meta... ORPHA:221008
Rothmund-Thomson Syndrome Type 2
Finger symphalangism, Abnormal ulnar metaphysis morphology, Osteopenia, Aplasia/hypoplasia involv... ORPHA:221016
Campomelic Dysplasia
Fibular hypoplasia, Poorly ossified cervical vertebrae, Scoliosis, Tibial bowing, Femoral bowing,... ORPHA:140
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... ORPHA:90363
Dent Disease
Rickets, Delayed epiphyseal ossification, Enlarged epiphyses, Sparse bone trabeculae, Metaphyseal... ORPHA:1652
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Optic disc pallor OMIM:244450
Rothmund-Thomson Syndrome
Hypoplasia of the ulna, Osteopenia, Reduced bone mineral density, Metaphyseal striations, Aplasia... ORPHA:2909
Mesomelia-Synostoses Syndrome
Carpometacarpal synostosis, Abnormal vertebral morphology, Short metatarsal, Metacarpal synostosi... OMIM:600383
Dubowitz Syndrome
Hypocholesterolemia, Rod-cone dystrophy OMIM:223370
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Osteogenesis Imperfecta, Type I
Osteopenia, Femoral bowing, Biconcave flattened vertebrae, Hip dysplasia, Finger joint hypermobility OMIM:166200
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Femoral bowing, Fibular bowing, Metaphyseal chondrodysplasia ORPHA:85165
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal neovascularization, Retinal cotton wool spot, Abnormal retinal vascular morphology, Eleva... ORPHA:247691
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Campomelic Dysplasia
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femo... OMIM:114290
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Femoral bowing, Tibial bowing, Short metacarpa... OMIM:304120
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting OMIM:615709
Smith-Lemli-Opitz Syndrome
Elevated circulating 7-dehydrocholesterol concentration, Hypoalbuminemia, Hypocholesterolemia OMIM:270400

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 Prkd3

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 Prkd3.

No publications found that use IMPC mice or data for Prkd3.

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MGI Allele Allele Type Produced
Prkd3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Prkd3tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Prkd3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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