Gene: Prkd3 MGI:1922542

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Gene Summary

protein kinase D3
4930557O20Rik,  5730497N19Rik,  PKD3,  Prkcn

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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, incomplete penetrance Prkd3tm1b(EUCOMM)Wtsi HOM   Early adult 0.000626
increased circulating aspartate transaminase level Prkd3tm1b(EUCOMM)Wtsi HET   Early adult 7.37×10-06

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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
Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Hemochromatosis, Type 5
Increased circulating ferritin concentration OMIM:615517
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Dwarfism With Tall Vertebrae
Increased vertebral height, Coxa vara OMIM:126950
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Abnormal co... ORPHA:2777
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Metaphyseal irregularity, Abnorma... ORPHA:79106
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... ORPHA:1802
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Metaphyseal irregularity, Ovoid vertebral bodies, Coxa vara, Genu varum, Hyperconvex v... OMIM:184255
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, ... OMIM:617719
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Ovoid vertebral bodies, Short long bone, Coxa vara, Genu varum, Rounded epi... OMIM:611702
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Platyspondyly, Metaphyseal chondrodysplasia, Short middle phalanx of f... OMIM:156500
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Metaphyseal irregularity, Spar... OMIM:600785
Cervical Vertebral Dysplasia
Cervical vertebral facet hypoplasia, Cervical vertebral dysplasia, Anterior atlanto-occipital dis... OMIM:118005
Symbrachydactyly Of Hands And Feet
Scoliosis, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the ... ORPHA:1570
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Flared iliac wing, Rhizomelia, Flared femoral metaphys... OMIM:183849
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flat distal femoral epiphysis, Platyspondyly, Irregularity of vertebral bodies, Genu valgum, Prox... OMIM:609324
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short iliac bones, Kyphosis, Flattened proximal radial epiphyses, Back pain, Osteopeni... OMIM:271530
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Short long bo... OMIM:618728
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... ORPHA:3344
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Kyphosis, Fibular bowing, Horizontal sacrum, Calvarial hyperostos... OMIM:112350
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly, Short greater sciatic notch, Coxa valga OMIM:271620
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lumbar platyspondyly, Lytic defects of humeral diaphysis, ... OMIM:601376
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Genu valgum, Thoracic kyphosis, Irregular vertebral endplates, Lumbar h... OMIM:609223
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Epiphyseal stippling, Abnormal bone ossification, Coronal cleft vertebrae, Bowing of the long bon... ORPHA:1952
Autosomal Dominant Brachyolmia
Abnormality of the metaphysis, Platyspondyly, Increased vertebral height, Kyphoscoliosis ORPHA:93304
Epiphyseal Dysplasia, Multiple, 6
Flat distal femoral epiphysis, Irregular epiphyses, Intervertebral disk calcification, Irregular ... OMIM:614135
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... ORPHA:40
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Hemivertebrae, Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae OMIM:616566
Acropectorovertebral Dysplasia
Toe syndactyly, Spina bifida occulta at L5, Abnormal vertebral morphology, Synostosis of carpal b... OMIM:102510
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Slender finger, Vertebral segm... OMIM:609813
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Gener... ORPHA:2790
Acrodysplasia Scoliosis
Scoliosis, Brachydactyly, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Ovoid ve... OMIM:609052
Primary Basilar Invagination
Abnormality of the cervical spine, Short neck, Abnormal vertebral morphology ORPHA:2285
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly, Camptodactyly of finger ORPHA:3180
Congenital Bowing Of Long Bones
Hyperlordosis, Bowing of the long bones ORPHA:2292
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetab... ORPHA:750
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Platyspondyly, Flared iliac wing, Ulnar bowing, Rhizomelia, Irregular sclerotic en... OMIM:602111
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Platyspondyly, Short middle phalanx of the 2nd finger, Short ... OMIM:156510
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Sclerotic vertebral body, Metatarsal diaphyseal endost... OMIM:144750
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal ilium morphology, Platyspondyly, Bilateral coxa valga, Abnormal vertebral morphology ORPHA:163665
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Beaking of vertebral bodies, Irregular vertebral endplates, Schmorl's node, Heberd... OMIM:604864
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Rhizomelia, Short femur, Short humerus OMIM:600121
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Femoral bowing, Cortical thickening of long bone diaphyses, Tibia... OMIM:166740
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral bo... OMIM:608940
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the small joints of the hand,... OMIM:601344
Scoliosis, Hyperlordosis, Short toe, Abnormal form of the vertebral bodies, Bowing of the long bo... ORPHA:429
Acrocapitofemoral Dysplasia
Scoliosis, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finger, Cone-shaped... OMIM:607778
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Deformed humeral heads, Short metatarsal, Rhizomelia, Short humerus, Coxa vara, Sh... OMIM:601438
Solitary Bone Cyst
Abnormal ilium morphology, Prominent calcaneus, Abnormality of tibia morphology, Abnormal form of... ORPHA:83468
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Platyspondyly, Mesomelic arm shortening, Distal ulnar epiphyseal stippling, Broad toe,... OMIM:609616
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Ovoid vertebral bodies, Irregular epiphyses, Narrow iliac wing, Hypoplastic pubic ... OMIM:608728
Greenberg Dysplasia
Platyspondyly, Abnormal bone ossification, Abnormal form of the vertebral bodies, Rhizomelia, Ant... ORPHA:1426
Osteogenesis Imperfecta, Type Vi
Protrusio acetabuli, Biconcave vertebral bodies, Beaking of vertebral bodies, Coxa vara, Vertebra... OMIM:613982
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossificat... ORPHA:2635
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, Tibial bowing, Bowi... OMIM:600081
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Hyperlordosis, Platyspondyly, Generalized bone demineralization, Abnormal vertebral mo... ORPHA:93352
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Sacral dimple, Abnormal form of the... ORPHA:2064
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Fibrodysplasia Ossificans Progressiva
Short hallux, Abnormal vertebral morphology, Ectopic ossification in muscle tissue, Ectopic ossif... ORPHA:337
Smith-Mccort Dysplasia 1
Scoliosis, Platyspondyly, Atlantoaxial instability, Multicentric femoral head ossification, Genu ... OMIM:607326
Osteogenesis Imperfecta, Type Xiv
Scoliosis, Osteopenia, Femoral bowing OMIM:615066
Sillence Syndrome
Scoliosis, Large iliac wing, Abnormal proximal phalanx morphology of the hand, Broad thumb, Campt... ORPHA:3168
Calvarial Doughnut Lesions With Bone Fragility
Scoliosis, Platyspondyly, Osteoporosis, Osteopenia, Femoral bowing OMIM:126550
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, Hypophosphatemic ri... OMIM:300554
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Thoracic kyphosis, Carpal bone hypoplasia, Camptodactyly, Iliac cres... OMIM:223800
Multiple Epiphyseal Dysplasia With Robin Phenotype
Scoliosis, Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irr... OMIM:601560
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Sclerotic verteb... ORPHA:289176
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, Hypophosphatemic ri... OMIM:241530
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets, Tibial bowing, ... OMIM:307800
Geroderma Osteodysplasticum
Osteoporosis, Platyspondyly, Biconcave vertebral bodies, Beaking of vertebral bodies, Camptodacty... OMIM:231070
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Subperiosteal bone resorption, Metaphyseal irregularity, Sparse bone trabecula... OMIM:264700
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Platyspondyly, Absent ossification of capital femoral epiphysis, Tibial bowing, Cervical kyphosis... OMIM:245160
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Short 4th metacarpal, Abnormal vertebral morphology, Spina bifida occulta at S1, Cutan... OMIM:601829
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Subperiosteal bone resorption, Metaphyseal irregularity, Sparse bone trabecula... OMIM:277440
Acromesomelic Dysplasia, Maroteaux Type
Thoracolumbar kyphosis, Radial bowing, Hypoplasia of the radius, Short metatarsal, Short phalanx ... OMIM:602875
Otospondylomegaepiphyseal Dysplasia
Dumbbell-shaped femur, Platyspondyly, Abnormality of long bone morphology, Short phalanx of finge... ORPHA:1427
Dent Disease 1
Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, Tibial bowing, Oste... OMIM:300009
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Abnormal vertebral morphology, Aplasia/hypoplasia involving bones of the extremiti... ORPHA:93346
Multiple Epiphyseal Dysplasia Type 5
Multiple small vertebral fractures, Hip dysplasia, Intervertebral disc degeneration, Genu valgum,... ORPHA:93311
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Craniosynostosis, Overlapping toe, Osteopenia, Short metacarpal, Thoracolumbar sco... OMIM:616723
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Genu valgum, Hypoplastic pelvis, Carpal bone hypoplasia, Flared femoral metaphysis... OMIM:184253
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Thoracic platyspondyly, Toe cli... ORPHA:457395
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Platyspondyly, Genu valgum, Short femur, Upper limb undergrowth, Osteoporosis, Aplasia... ORPHA:94068
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Broad long bone diaphyses, ... OMIM:300106
Idiopathic Juvenile Osteoporosis
Osteoporosis, Kyphosis, Vertebral compression fracture ORPHA:85193
Osteogenesis Imperfecta, Type Xviii
Biconcave vertebral bodies, Bowing of the long bones, Generalized osteoporosis, Thin bony cortex,... OMIM:617952
Osteogenesis Imperfecta, Type Xvii
Scoliosis, Platyspondyly, Osteoporosis, Thin metacarpal cortices, Vertebral compression fracture OMIM:616507
Anauxetic Dysplasia 3
Platyspondyly, Genu valgum, Hip subluxation, Squared iliac bones, Beaking of vertebral bodies, Tr... OMIM:618853
Osteogenesis Imperfecta, Type Viii
Scoliosis, Platyspondyly, Radial bowing, Kyphosis, Tibial bowing, Slender long bone, Decreased sk... OMIM:610915
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Holt-Oram Syndrome
Hypoplasia of the radius, Abnormal vertebral morphology, Finger clinodactyly, Aplasia of the ulna... OMIM:142900
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Sandal gap, Wide capital femoral epiphy... OMIM:147891
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Bowing of the legs, Abnormality of fibula morphology, Arthralg... ORPHA:93323
Hypocalcemic Vitamin D-Dependent Rickets
Subperiosteal bone resorption, Rickets, Tibial bowing, Osteomalacia, Genu varum, Delayed epiphyse... ORPHA:289157
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated alpha-fetoprotein OMIM:615970
Bruck Syndrome 2
Talipes equinovarus, Platyspondyly, Osteopenia, Femoral bowing OMIM:609220
Otopalatodigital Syndrome, Type I
Scoliosis, Abnormality of the fifth metatarsal bone, Short distal phalanx of finger, Sandal gap, ... OMIM:311300
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Metaphyseal widening, B... ORPHA:440354
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Split hand, Foot polydactyly, Vertebral segmentation defect, Phocomelia ORPHA:3004
Kyphomelic Dysplasia
Radial bowing, Platyspondyly, Short femur, Dumbbell-shaped humerus, Short humerus, Tibial bowing,... OMIM:211350
Osteogenesis Imperfecta, Type Iv
Scoliosis, Kyphosis, Reduced bone mineral density, Biconcave flattened vertebrae, Femoral bowing ... OMIM:166220
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Short metatarsal, Congenital hip dislocation, Broad thumb, Short th... OMIM:304120
Stuve-Wiedemann Syndrome
Scoliosis, Osteoporosis, Contracture of the proximal interphalangeal joint of the 5th finger, Sho... OMIM:601559
Hyperparathyroidism, Transient Neonatal
Osteopenia, Femoral bowing OMIM:618188
Thanatophoric Dysplasia Type 1
Platyspondyly, Short femur, Split hand, Kyphosis, Short greater sciatic notch, Micromelia, Hypopl... ORPHA:1860
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postax... OMIM:613091
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Abnormality of the vertebral column, Abnormal vertebral morphology OMIM:276950
Campomelic Dysplasia
Scoliosis, Poorly ossified cervical vertebrae, Hypoplastic inferior ilia, Kyphosis, Bowing of the... ORPHA:140
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hand polydactyly, Abnormality of the vertebral column, Abnormal vertebral morphology, Short humer... OMIM:314390
Cartilage-Hair Hypoplasia
Scoliosis, Short palm, Metaphyseal cupping, Lumbar hyperlordosis, Metaphyseal dysplasia, Narrow v... OMIM:250250
Rothmund-Thomson Syndrome Type 1
Metaphyseal sclerosis, Short phalanx of finger, Abnormal trabecular bone morphology, Abnormality ... ORPHA:221008
Rothmund-Thomson Syndrome Type 2
Metaphyseal sclerosis, Short phalanx of finger, Abnormal trabecular bone morphology, Abnormality ... ORPHA:221016
Campomelic Dysplasia
Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Hypoplastic scapulae, Shorten... OMIM:114290
Dent Disease
Bulging epiphyses, Metaphyseal irregularity, Enlarged epiphyses, Rickets, Osteomalacia, Bowing of... ORPHA:1652
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Ap... ORPHA:2909
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Metaphyseal chondrodysplasia, Femoral bowing, Fibular bowing, Tibial bowing ORPHA:85165
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Dislocated radial head, Craniosynostosis, Camptodactyly of toe, Slender ... OMIM:600920
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Split hand, Hemivertebrae, Phocomelia, Short neck, Femoral bowing, Hypoplas... OMIM:276820
Osteogenesis Imperfecta, Type I
Osteopenia, Biconcave flattened vertebrae, Femoral bowing OMIM:166200
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Humeroradial synostosis, Lambdoidal craniosynostosis, Camptodactyly, Coronal ... OMIM:207410
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Short long bone, Syndactyly, Acetabular spurs, Brach... OMIM:615503
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Osteogenesis Imperfecta
Scoliosis, Abnormality of long bone morphology, Abnormality of tibia morphology, Abnormality of t... ORPHA:666
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Platyspondyly, Short femur, Enlarged metaphyses, Hypoplastic ilia, Absent knee epiphyses, Large h... OMIM:210710
Alpha-Fetoprotein Deficiency
Decreased levels of alpha-fetoprotein OMIM:615969
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Scoliosis, Rocker bottom foot, Humeroradial synostosis, Craniosynostosis, Tarsal synostosis, Radi... OMIM:201750


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
Prkd3tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (post-Cre) Mice
Prkd3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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