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Gene: Prkd3 MGI:1922542

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating HDL cholesterol level Prkd3tm1b(EUCOMM)Wtsi HET   Early adult 1.68×10-05
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

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

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 A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Dwarfism With Tall Vertebrae
Increased vertebral height, Coxa vara OMIM:126950
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Hyperconvex vertebral body... OMIM:184255
Eiken Syndrome
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... ORPHA:79106
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... ORPHA:1802
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Pear-shap... ORPHA:93356
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Proximal f... OMIM:609324
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho... OMIM:112350
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc... OMIM:246700
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... ORPHA:1570
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Coronal cle... ORPHA:1952
Epiphyseal Dysplasia, Multiple, 6
Flat distal femoral epiphysis, Flat capital femoral epiphysis, Schmorl's node, Irregular distal f... OMIM:614135
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Irregular vertebral endplates,... OMIM:609223
Autosomal Dominant Brachyolmia
Increased vertebral height, Abnormal metaphysis morphology, Platyspondyly, Kyphoscoliosis ORPHA:93304
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... ORPHA:40
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... ORPHA:2790
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn... ORPHA:750
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... OMIM:602111
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... ORPHA:75508
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures... OMIM:156510
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... OMIM:619598
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Bilateral coxa valga, Platyspondyly, Abnormal vertebral morphology, Abnormal ilium morphology ORPHA:163665
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormal femur mor... ORPHA:429
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Short hallux, Spinal rigidity, Ectopic ossification in ligament tissue, Aplasia/Hy... ORPHA:337
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Increased bone mineral density, Tibia... OMIM:166740
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Metaphyseal widening, Coxa vara, Tibial bow... OMIM:608940
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Coxa vara, Absent spinou... OMIM:601344
Solitary Bone Cyst
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Abnor... ORPHA:83468
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... OMIM:144750
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling OMIM:600121
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O... OMIM:608728
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Schmorl's node, Irregular vertebral endplates, Platyspondyly, Beaking of vertebr... OMIM:604864
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short 4th metacar... OMIM:619638
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... OMIM:609616
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Anterio... ORPHA:1426
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... ORPHA:2635
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow vertebral interpedicular distance, Bowing of the legs, Short neck, Hyperlordosis, Delayed ... ORPHA:93352
Osteogenesis Imperfecta, Type Vi
Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Biconcave vertebral bodies, Beaki... OMIM:613982
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia 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
Bulging epiphyses, Thin bony cortex, Bowing of the legs, Delayed epiphyseal ossification, Rickets... OMIM:600081
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Thin bony cortex, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossific... OMIM:300554
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis OMIM:126550
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Flared metaphysis,... OMIM:602557
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... OMIM:223800
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Thin bony cortex, Bowing of the legs, Delayed epiphyseal ossification, Rickets... OMIM:241530
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... OMIM:602080
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Rickets, Spinal canal stenosis, T... OMIM:307800
Acromesomelic Dysplasia 1
Short metacarpal, Radial bowing, Lumbar hyperlordosis, Ovoid vertebral bodies, Broad metatarsal, ... OMIM:602875
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:144010
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the... ORPHA:289176
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Steatorrhea, Hypocholesterolemia OMIM:607765
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Hypoplastic pubic bone, Flared metaphysis, Short long bone, Small ... ORPHA:93346
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Thin bony cortex, Bowing of the legs, Subperiosteal bone resorption, Delayed e... OMIM:264700
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, H... ORPHA:93315
Dent Disease 1
Bulging epiphyses, Thin bony cortex, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossific... OMIM:300009
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Thin bony cortex, Bowing of the legs, Subperiosteal bone resorption, Delayed e... OMIM:277440
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Rhizomelia, Thoracolumbar scol... OMIM:618019
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Osteogenesis Imperfecta, Type Viii
Osteopenia, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Tibial bowing, Femor... OMIM:610915
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... ORPHA:457395
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormally o... ORPHA:1427
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Femoral bowing, Biconcave vertebral bodies, Vertebral compression fract... OMIM:617952
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Short metacarpal, Thoracolumbar kyphoscoliosis, Hip subluxation, Squ... OMIM:618853
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, ... OMIM:616723
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen... OMIM:142900
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Kyphoscoliosis,... OMIM:231070
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,... OMIM:620076
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... OMIM:311300
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure ORPHA:83451
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... ORPHA:289157
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Bruck Syndrome 2
Osteopenia, Platyspondyly, Talipes equinovarus, Femoral bowing OMIM:609220
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:96180
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Phocomelia, Vertebral segmentation defect, Split hand, Foot polydactyly ORPHA:3004
Achondroplasia
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Lumbar hyperlordosis, Bowing of the legs, ... OMIM:100800
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Kyphoscoliosis, Wide distal fe... OMIM:614856
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... OMIM:211350
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal... ORPHA:440354
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ... OMIM:187600
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Scoliosis, Femoral bowing ... OMIM:166220
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... ORPHA:1860
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Metaphyseal sclerosis, Patella... ORPHA:221008
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplasia/hypoplasia involving b... ORPHA:221016
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... ORPHA:14
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Steatorrhea, Hypocholesterolemia OMIM:212065
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, S... ORPHA:140
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Bowing of the legs, Delaye... ORPHA:1652
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Rothmund-Thomson Syndrome
Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Aplasia/Hypoplasia of th... ORPHA:2909
Mesomelia-Synostoses Syndrome
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... OMIM:600383
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Osteogenesis Imperfecta, Type I
Osteopenia, Biconcave flattened vertebrae, Femoral bowing, Hip dysplasia, Finger joint hypermobility OMIM:166200
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Metaphyseal chondrodysplasia, Fibular bowing, Femoral bowing ORPHA:85165
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiphyseal ossification, P... OMIM:114290
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bo... OMIM:276820
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis OMIM:612301
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short neck, Short metatarsal, Tibial bowing, Femoral bowing, Short me... OMIM:304120
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, 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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