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 circulating HDL cholesterol level Prkd3tm1b(EUCOMM)Wtsi HET   Early adult 1.81×10-05
increased circulating aspartate transaminase level Prkd3tm1b(EUCOMM)Wtsi HET Early adult 6.37×10-05
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

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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 circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Dwarfism With Tall Vertebrae
Coxa vara, Increased vertebral height OMIM:126950
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... ORPHA:2777
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormal form of the vertebral bodies... ORPHA:1802
Spondylometaphyseal Dysplasia, Corner Fracture Type
Coxa vara, Metaphyseal irregularity, Scoliosis, Genu varum, Short femoral neck, Hyperconvex verte... OMIM:184255
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... OMIM:611702
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Platyspondyly, Monkey wrench femoral... OMIM:617719
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Platyspondyly, Distal tibial bowing, Irregular acetabular ... OMIM:156500
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Increased anterior vertebral height, Proximal humeral metaphyseal irregularity, Coxa vara, Delaye... OMIM:183849
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Pear-shap... ORPHA:93356
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Platyspondyly, Broad femoral neck... OMIM:609324
Weismann-Netter Syndrome
Kyphosis, Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal h... ORPHA:3344
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Platyspondyly, Coxa valga OMIM:271620
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Weismann-Netter Syndrome
Kyphosis, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral b... OMIM:112350
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Abnormal morphology of ulna, Abnormality of the humerus, Scoliosis... ORPHA:1570
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal bone ossification, Genu varum, Bowing of the long bones, Coronal cleft vertebrae, Coarse... ORPHA:1952
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Lumbar hyperlordosis, Flat capital femoral epiphysis, Platyspondyl... OMIM:609223
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly, Abnormal metaphysis morphology ORPHA:93304
Epiphyseal Dysplasia, Multiple, 6
Irregular vertebral endplates, Intervertebral disk calcification, Flat capital femoral epiphysis,... OMIM:614135
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... OMIM:601376
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Brachyda... ORPHA:40
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Platyspondyly OMIM:184095
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis OMIM:616566
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Spina bifida occulta at L5, Spina bifida o... OMIM:102510
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal form of the vertebral bodies, Sclerotic... ORPHA:2790
Acrodysplasia Scoliosis
Vertebral segmentation defect, Brachydactyly, Scoliosis, Spina bifida occulta ORPHA:2956
Primary Basilar Invagination
Abnormal vertebral morphology, Short neck, Abnormality of the cervical spine ORPHA:2285
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... OMIM:609813
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Congenital Bowing Of Long Bones
Bowing of the long bones, Hyperlordosis ORPHA:2292
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Thin bony cortex, Hypoplasia of ... ORPHA:75508
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Flared metaphysis, Platyspondyly, Short middle phalanx of the 2nd finger, ... OMIM:156510
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Platyspondyly, Hypoplasia of the femoral head, Short humerus, Wide distal femoral me... OMIM:619598
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... OMIM:616834
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal vertebral morphology, Platyspondyly, Bilateral coxa valga, Abnormal ilium morphology ORPHA:163665
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Beaking of vertebral bodies, Platyspondyly, Schmorl's node, Heberd... OMIM:604864
Spinal Dysplasia, Anhalt Type
Coxa vara, Osteoarthritis of the small joints of the hand, Spinal dysplasia, Thoracolumbar scolio... OMIM:601344
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Hypochondroplasia
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Scoliosis, Abnormal form of th... ORPHA:429
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur OMIM:600121
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Solitary Bone Cyst
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Back pain, Abnormality of the... ORPHA:83468
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... OMIM:608728
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... OMIM:615558
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Spondylometaphyseal Dysplasia, Pagnamenta Type
Femoral bowing, Platyspondyly, Thin bony cortex, Thoracic kyphosis, Rhizomelia, Broad thumb, Shor... OMIM:619638
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:609616
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Platyspondyly, Brachydactyly, Short humerus, Rhizomelia, Short... OMIM:601438
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Greenberg Dysplasia
Abnormal bone ossification, Anterior rib punctate calcifications, Abnormally ossified vertebrae, ... ORPHA:1426
Metatropic Dysplasia
Kyphosis, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th finger... ORPHA:2635
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Spa... OMIM:600081
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Abnormal enchondral ossification, Vertebra... ORPHA:93314
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Spondyloepimetaphyseal Dysplasia, Shohat Type
Squared-off platyspondyly, Metaphyseal irregularity, Delayed epiphyseal ossification, Bowing of t... ORPHA:93352
Sillence Syndrome
Platyspondyly, Abnormal vertebral morphology, Large tarsal bones, Back pain, Chess-pawn distal ph... ORPHA:3168
Osteogenesis Imperfecta, Type Vi
Beaking of vertebral bodies, Coxa vara, Biconcave vertebral bodies, Protrusio acetabuli, Vertebra... OMIM:613982
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies, Sacral dimple, ... ORPHA:2064
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hallux, Spinal rigidit... ORPHA:337
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Smith-Mccort Dysplasia 1
Kyphosis, Beaking of vertebral bodies, Metaphyseal irregularity, Multicentric femoral head ossifi... OMIM:607326
Osteogenesis Imperfecta, Type Xiv
Femoral bowing, Osteopenia, Scoliosis OMIM:615066
Calvarial Doughnut Lesions With Bone Fragility
Femoral bowing, Osteopenia, Platyspondyly, Scoliosis, Osteoporosis OMIM:126550
Hypophosphatemic Rickets, X-Linked Recessive
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Hyp... OMIM:300554
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Steatorrhea OMIM:266510
Autosomal Recessive Hypophosphatemic Rickets
Spinal canal stenosis, Coxa vara, Tibial bowing, Distal femoral bowing, Rickets of the lower limb... ORPHA:289176
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Platyspondyly, Short neck, Rh... OMIM:223800
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Hyp... OMIM:241530
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Short fem... OMIM:601560
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:264700
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Tibial bowing, Absent ossification of capital femoral epiphysis, Femoral bowing, Platyspondyly, S... OMIM:245160
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal d... OMIM:307800
Squalene Synthase Deficiency
Hypocholesterolemia, Increased circulating farnesol concentration, Decreased LDL cholesterol conc... OMIM:618156
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Spina bifida occulta at S1, Short 4th metacarpal, Abnormal vertebral morphology, Cutan... OMIM:601829
Acromesomelic Dysplasia 1
Broad metacarpals, Beaking of vertebral bodies, Broad phalanx, Lumbar hyperlordosis, Thoracolumba... OMIM:602875
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Tibial bowing, Lumbar hyperlordosis, Abnormal iliac wing morphology, Abnorm... ORPHA:1427
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Sclerosis of skull base, Short femur, Femoral bowing, Fr... OMIM:602080
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea OMIM:607765
Dent Disease 1
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Spa... OMIM:300009
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Platyspondyly, Short neck, Biconcave vertebral bodies, Upper limb ... ORPHA:93315
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Delayed ossification of carpal bones, Abnormally ossified vertebrae, Cervical instability, Flared... ORPHA:93346
Vitamin D-Dependent Rickets, Type 2A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:277440
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Overlapping toe, Craniosynostosis, Femoral bowing, Osteopenia, Platyspondyly, Short neck, Short f... OMIM:616723
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Rhizomelia, Ovoid vertebral bodies, Sho... OMIM:618019
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Osteopenia, Cone-sha... ORPHA:457395
Osteogenesis Imperfecta, Type Viii
Kyphosis, Tibial bowing, Radial bowing, Femoral retroversion, Femoral bowing, Osteopenia, Platysp... OMIM:610915
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Chylomicron Retention Disease
Hypocholesterolemia, Steatorrhea ORPHA:71
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Osteogenesis Imperfecta, Type Xviii
Femoral bowing, Biconcave vertebral bodies, Thin bony cortex, Vertebral compression fracture, Bow... OMIM:617952
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Metaphyseal cupping, Femoral bowing, Trident hand, Platyspondyly, Br... OMIM:618853
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Thoracic scoliosis, Absent thumb, Hypoplasia of the radius,... OMIM:142900
Florid Cemento-Osseous Dysplasia
Abnormal bone structure, Multiple bony cystic lesions, Abnormal trabecular bone morphology ORPHA:83451
Geroderma Osteodysplasticum
Irregular vertebral endplates, Beaking of vertebral bodies, Kyphoscoliosis, Tibial bowing, Hypere... OMIM:231070
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Sparse bone trabec... ORPHA:289157
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circ... ORPHA:96180
Bruck Syndrome 2
Femoral bowing, Osteopenia, Platyspondyly, Talipes equinovarus OMIM:609220
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Otopalatodigital Syndrome, Type I
Short 3rd metacarpal, Broad hallux, Sandal gap, Broad distal phalanx of the thumb, Short distal p... OMIM:311300
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Vertebral segmentation defect, Phocomelia, Foot polydactyly, Split hand ORPHA:3004
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Femoral bowing, Metaphyseal widening, Brachydactyly, Micromelia, Hypoplastic scapula... ORPHA:440354
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Flared metaphysis... OMIM:211350
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Small abnormally formed scapulae, Femoral bowing, Hypoplastic ilia, Pla... OMIM:187600
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Platyspondyly, Congenital hip dislocation, Ru... OMIM:304120
Osteogenesis Imperfecta, Type Iv
Kyphosis, Reduced bone mineral density, Biconcave flattened vertebrae, Femoral bowing present at ... OMIM:166220
Hyperparathyroidism, Transient Neonatal
Femoral bowing, Osteopenia OMIM:618188
Thanatophoric Dysplasia Type 1
Kyphosis, Short femur, Femoral bowing, Hypoplastic ilia, Platyspondyly, Micromelia, Brachydactyly... ORPHA:1860
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Postaxial polydactyly, Pr... OMIM:613091
Rothmund-Thomson Syndrome Type 1
Metaphyseal sclerosis, Osteopenia, Metaphyseal striations, Short phalanx of finger, Abnormal ulna... ORPHA:221008
Abetalipoproteinemia
Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Steatorrhea, Decreased HDL... ORPHA:14
Rothmund-Thomson Syndrome Type 2
Metaphyseal sclerosis, Osteopenia, Metaphyseal striations, Short phalanx of finger, Abnormal ulna... ORPHA:221016
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Small abnormally formed scapulae, Tibial bowing, Ta... ORPHA:140
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Hypoalbuminemia, Steatorrhea OMIM:212065
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Secondary hyperaldosteronism, Decreased prealbumin... ORPHA:90363
Dent Disease
Metaphyseal irregularity, Delayed epiphyseal ossification, Bowing of the legs, Sparse bone trabec... ORPHA:1652
Alg12-Cdg
Hypocholesterolemia, Hypoalbuminemia, Hyponatremia ORPHA:79324
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Rothmund-Thomson Syndrome
Reduced bone mineral density, Broad ulna, Osteopenia, Aplasia/Hypoplasia of the patella, Metaphys... ORPHA:2909
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Femoral bowing, Tibial bowing, Fibular bowing, Metaphyseal chondrodysplasia ORPHA:85165
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology, Femur fracture OMIM:612301
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypoplasia of the radius, Hemivertebrae, Femoral bowing, Short neck, Decreased calvarial ossifica... OMIM:276820
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Osteogenesis Imperfecta, Type I
Biconcave flattened vertebrae, Femoral bowing, Osteopenia OMIM:166200
Smith-Lemli-Opitz Syndrome
Hypocholesterolemia, Elevated 7-dehydrocholesterol, Hypoalbuminemia 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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