Gene Summary

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

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
decreased circulating HDL cholesterol level Prkd3tm1b(EUCOMM)Wtsi HET   Early adult 1.68×10-05
preweaning lethality, incomplete penetrance Prkd3tm1b(EUCOMM)Wtsi HOM   Early adult 0.000626
decreased circulating cholesterol level Prkd3tm1b(EUCOMM)Wtsi HET   Early adult 1.27×10-05
increased circulating aspartate transaminase level Prkd3tm1b(EUCOMM)Wtsi HET Early adult 6.37×10-05

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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
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Dwarfism With Tall Vertebrae
Increased vertebral height, Coxa vara OMIM:126950
Kyphosis, Increased bone mineral density, Abnormal cortical bone morphology, Scoliosis, Sclerotic... ORPHA:2777
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Metaphyseal irregularity, Coxa vara, Short femoral neck, Hypoplasia of the odontoid p... OMIM:184255
Eiken Syndrome
Short phalanx of finger, Thin bony cortex, Short toe, Metaphyseal irregularity, Abnormal bone oss... ORPHA:79106
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone morphol... ORPHA:1802
Epiphyseal Dysplasia, Multiple, 7
Genu varum, Advanced ossification of carpal bones, Short femoral neck, Vertebral wedging, Flat ac... OMIM:617719
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Metaphyseal cupping of proximal phalanges, Lumbar hyperlordosis,... ORPHA:174
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Genu valgum, Metaphyseal irregularity, Genu ... OMIM:600785
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... OMIM:118005
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal cupping of proximal phalanges, Metaphyseal chondrodysplasia, Irregular acetabular roo... OMIM:156500
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Pear-shaped vertebrae, Short lower limbs, Femoral bowing, F... ORPHA:93356
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise ORPHA:206599
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Broad femoral neck, Genu valgum, Coxa vara, Flat distal femoral epiphysis, Short femoral neck, Ep... OMIM:609324
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Pear-shaped vertebrae, Coxa vara, Short femoral neck, Flared iliac wing, Increased an... OMIM:183849
Weismann-Netter Syndrome
Kyphosis, Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral b... ORPHA:3344
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Coxa valga, Short greater sciatic notch, Platyspondyly OMIM:271620
Weismann-Netter Syndrome
Anterior tibial bowing, Horizontal sacrum, Kyphosis, Lateral femoral bowing, Scoliosis, Fibular b... OMIM:112350
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Vertebral segmentation defect, Abnormality of the humerus, Abnor... ORPHA:1570
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Genu varum, Abnormal bone ossification, Epiphyseal stippling, Coarse metaphyseal trabecularizatio... ORPHA:1952
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Genu varum, Intervertebral space narrowing, Irregular vertebral endplates, Genu valgum, Broad fem... OMIM:609223
Epiphyseal Dysplasia, Multiple, 6
Irregular vertebral endplates, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Irr... OMIM:614135
Autosomal Dominant Brachyolmia
Abnormal metaphysis morphology, Kyphoscoliosis, Increased vertebral height, Platyspondyly ORPHA:93304
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... OMIM:601376
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Platyspondyly OMIM:184095
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... OMIM:144250
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae OMIM:616566
Acropectorovertebral Dysplasia
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... OMIM:102510
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Acromesomelic Dysplasia, Maroteaux Type
Hyperlordosis, Kyphosis, Vertebral wedging, Ovoid vertebral bodies, Scoliosis, Brachydactyly, Bea... ORPHA:40
Acrodysplasia Scoliosis
Spina bifida occulta, Vertebral segmentation defect, Scoliosis, Brachydactyly ORPHA:2956
Primary Basilar Invagination
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology ORPHA:2285
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... OMIM:609813
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Congenital Bowing Of Long Bones-Short Stature-Dolichomacrocephaly-Ocular Hypertelorism Syndrome
Hyperlordosis, Bowing of the long bones ORPHA:2292
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Short phalanx of finger, Irregular carpal bones, Irregular acetabular roof, Beaking of vertebral ... ORPHA:750
Angioosteohypotrophic Syndrome
Thin bony cortex, Upper limb undergrowth, Abnormal trabecular bone morphology, Hypoplasia of the ... ORPHA:75508
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short 5th metacarpal, Short middle phalanx of the 5th finger, Osteoporosis of vertebrae, Short mi... OMIM:156510
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... OMIM:616834
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Genu varum, Metaphyseal cupping, Pear-shaped vertebrae, Coxa vara,... OMIM:602111
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Bilateral coxa valga, Abnormal vertebral morphology, Abnormal ilium morphology, Platyspondyly ORPHA:163665
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Heberden's node, Platyspondyly, Beaking of vertebral bodies, Schmo... OMIM:604864
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Tibial bowing, Cortical thickening of long bone diaphyses, Femora... OMIM:166740
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Thickened cort... OMIM:144750
Spinal Dysplasia, Anhalt Type
Thoracolumbar scoliosis, Narrow anterio-posterior vertebral body diameter, Coxa vara, Spinal dysp... OMIM:601344
Solitary Bone Cyst
Back pain, Proximal femoral metaphyseal abnormality, Abnormality of the medullary cavity of the l... ORPHA:83468
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Wide distal femoral metaphysis, Hip dysplasia, Short femur, Hypoplasia of the... OMIM:619598
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:615558
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Metaphyseal cupping, Severe platyspondyly, Coxa vara, Short metacarpal,... OMIM:608940
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Hyperlordosis, Short toe, Genu varum, Spinal canal stenosis, Abnormal pelvic girdle bone morpholo... ORPHA:429
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Hypoplastic pubic bone, Short long bone, Flat acetabular roof, Irregular e... OMIM:608728
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Ovoid vertebral bo... OMIM:607778
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Short 4th metacarpal, Short 5th metacarpal, Thoracic kyphosis, Femoral bowing, ... OMIM:619638
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Irregular vertebral endplates, Hypoplastic pubic bone, Short foot, Enlarg... OMIM:609616
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... ORPHA:85188
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... ORPHA:93314
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Osteogenesis Imperfecta, Type Vi
Protrusio acetabuli, Biconcave vertebral bodies, Coxa vara, Beaking of vertebral bodies, Vertebra... OMIM:613982
Sillence Syndrome
Large iliac wing, Camptodactyly, Metatarsus adductus, Abnormal distal phalanx morphology of finge... ORPHA:3168
Acromesomelic Dysplasia 2C
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... OMIM:201250
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in ligament tissue, Hallux valgus, Spinal rigidity, Clinodactyly of the 5th ... ORPHA:337
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Generalized bone demineralization, Metaphyseal irregularity, Genu varum, Fibular o... ORPHA:93352
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumb... ORPHA:2064
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Scoliosis, Femoral bowing OMIM:615066
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Tibial bowing, Sparse bone trabecu... OMIM:600081
Smith-Mccort Dysplasia 1
Short phalanx of finger, Genu varum, Genu valgum, Delayed femoral head ossification, Hypoplastic ... OMIM:607326
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Osteomalacia, Tibial bowing, Spars... OMIM:300554
Calvarial Doughnut Lesions With Bone Fragility
Femoral bowing, Osteopenia, Scoliosis, Platyspondyly, Osteoporosis OMIM:126550
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Hypoplastic iliac wi... OMIM:228930
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:603776
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Steatorrhea, Elevated circulating phytanic acid concentration OMIM:266510
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Tibial bowing, Sparse bone trabecu... OMIM:241530
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Trapezoidal distal femoral condyles, Genu valgum, Metaphyseal irreg... OMIM:307800
Paget Disease Of Bone 2, Early-Onset
Short femur, Femoral bowing, Osteosclerosis of the ulna, Osteolysis, Fractures of the long bones,... OMIM:602080
Dyggve-Melchior-Clausen Disease
Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow greater sciati... OMIM:223800
Autosomal Recessive Hypophosphatemic Rickets
Genu varum, Coxa vara, Rickets of the lower limbs, Abnormal trabecular bone morphology, Increased... ORPHA:289176
Squalene Synthase Deficiency
Hypocholesterolemia, Increased circulating farnesol concentration, Decreased LDL cholesterol conc... OMIM:618156
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... OMIM:616000
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Steatorrhea, Conjugated hyperbilirubinemia OMIM:607765
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Tibial bowing, Sparse bone trabecu... OMIM:264700
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Hypoplastic pubic bone, Short long bone, Delayed ossification of carpal bones, Abnormal vertebral... ORPHA:93346
Dent Disease 1
Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Osteomalacia, Tibial bowing, Spars... OMIM:300009
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral hypoplasia, Corner fracture of metaphysis, Short neck, Ovoid vertebral bodies, Reduced ... ORPHA:93315
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... OMIM:200700
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Tibial bowing, Sparse bone trabecu... OMIM:277440
Chylomicron Retention Disease
Hypocholesterolemia, Hypertriglyceridemia, Steatorrhea ORPHA:71
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Osteogenesis Imperfecta, Type Viii
Kyphosis, Femoral retroversion, Short metacarpal, Radial bowing, Slender long bone, Femoral bowin... OMIM:610915
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di... ORPHA:457395
Anauxetic Dysplasia 3
Hip subluxation, Genu valgum, Metaphyseal cupping, Short metacarpal, Broad middle phalanx of fing... OMIM:618853
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... OMIM:207750
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Short 4th metacarpal, Camptodactyly, Broad hallux, Ovoid vertebral bodies, Thoracic platyspondyly... OMIM:618019
Otopalatodigital Syndrome, Type I
Short 4th metacarpal, Coxa valga, Abnormality of the fifth metatarsal bone, Toe syndactyly, Hip d... OMIM:311300
Holt-Oram Syndrome
Triphalangeal thumb, Absent thumb, Abnormal carpal morphology, Hypoplasia of the radius, Short di... OMIM:142900
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Thoracolumbar scoliosis, Short femoral neck, Short metacarpal, Narrow pelvis bone, Carpal bone hy... OMIM:616723
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Biconcave vertebral bodies, Femoral bowing, Generalized osteoporosis, Vertebral... OMIM:617952
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure ORPHA:83451
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Genu varum, Osteomalacia, Tibial bowing, Sparse bone trabeculae, Femoral bowing... ORPHA:289157
Geroderma Osteodysplasticum
Biconcave vertebral bodies, Irregular vertebral endplates, Hyperextensibility of the finger joint... OMIM:231070
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circ... ORPHA:96180
Bent Bone Dysplasia Syndrome 2
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Osteogenesis Imperfecta, Type Xiii
Arachnodactyly, Wide pubic symphysis, Wide distal femoral metaphysis, Angulated humerus, Increase... OMIM:614856
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Foot polydactyly, Vertebral segmentation defect, Phocomelia, Split hand ORPHA:3004
Genu varum, Spinal stenosis with reduced interpedicular distance, Severe platyspondyly, Short fem... OMIM:100800
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Severe platyspondyly, Hypoplastic ilia, Short long bone, Femoral bowing... OMIM:187600
Bruck Syndrome 2
Femoral bowing, Osteopenia, Platyspondyly OMIM:609220
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Kyphosis, Femoral bowing present at birth, straightening with time... OMIM:166220
Kyphomelic Dysplasia
Short metacarpal, Radial bowing, Flat acetabular roof, Ulnar bowing, Short femur, Femoral bowing,... OMIM:211350
Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormal circulating apolipoprotein ... ORPHA:14
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Dumbbell-shaped long bone, Short femur, Femoral bowing, Brachydactyly, Hypoplastic scapulae, Meta... ORPHA:440354
Rothmund-Thomson Syndrome Type 1
Short phalanx of finger, Genu varum, Abnormality of the radial head, Metaphyseal sclerosis, Patel... ORPHA:221008
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Short long bone, Absent tibia, Short digit, Hypoplasia of the ulna, Femora... OMIM:613091
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Steatorrhea, Hypoalbuminemia OMIM:212065
Rothmund-Thomson Syndrome Type 2
Short phalanx of finger, Genu varum, Abnormality of the radial head, Metaphyseal sclerosis, Patel... ORPHA:221016
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transferrin concent... ORPHA:90363
Campomelic Dysplasia
Kyphosis, Short long bone, Hypoplastic inferior ilia, Hip dislocation, Poorly ossified cervical v... ORPHA:140
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Dent Disease
Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Osteomalacia, Enlarged epiphyses, ... ORPHA:1652
Hypocholesterolemia, Hypoalbuminemia, Hyponatremia ORPHA:79324
Rothmund-Thomson Syndrome
Broad ulna, Abnormal trabecular bone morphology, Metaphyseal striations, Hypoplasia of the ulna, ... ORPHA:2909
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Femoral bowing, Metaphyseal chondrodysplasia, Fibular bowing ORPHA:85165
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Phocomelia, Short neck... OMIM:276820
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis OMIM:612301
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Osteogenesis Imperfecta, Type I
Femoral bowing, Osteopenia, Biconcave flattened vertebrae OMIM:166200
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad hallux, Short hallux, Short neck, Postaxial hand polydactyly, Sclerosis of ... OMIM:304120
Smith-Lemli-Opitz Syndrome
Hypocholesterolemia, Elevated 7-dehydrocholesterol, Hypoalbuminemia OMIM:270400


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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