Gene Summary

Name:
protein kinase inhibitor, alpha
Synonyms:
PKIalpha

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
short tibia Pkiatm1b(EUCOMM)Hmgu HOM   Early adult 6.36×10-05

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 50% (1 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skeletal muscle  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Trigeminal V nerve  Wholemount images heterozygote 100% (2 of 2)
Vas deferens  Wholemount images heterozygote Not available
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.18% (1 of 553)
oral epithelium 0.0%
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 4.03% (15 of 372)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel A FCS file(s)

7 Images

Immunophenotyping

Panel B FCS file(s)

7 Images

Human diseases caused by Pkia 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 Pkia by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Blount Disease, Infantile
Genu varum, Abnormality of the proximal tibial epiphysis OMIM:188700
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Tibial Torsion, Bilateral Medial
Abnormality of tibia morphology, Tibial torsion, Bowing of the legs OMIM:188800
Genu Valgum, St. Helena Familial
Genu valgum OMIM:137370
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Tibial Hemimelia
Absent tibia OMIM:275220
Metaphyseal Anadysplasia 2
Metaphyseal widening, Metaphyseal irregularity, Short femoral neck, Bowing of the legs OMIM:613073
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
Fibula, Recurrent Dislocation Of Head Of
Abnormality of fibula morphology OMIM:135800
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... OMIM:118651
Blount Disease
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the knee, Abnormality... ORPHA:2768
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... ORPHA:1972
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... ORPHA:988
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Dyschondrosteosis And Nephritis
Radial bowing, Ulnar bowing, Short forearm, Short tibia OMIM:127350
Leri-Weill Dyschondrosteosis
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... OMIM:127300
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius, Mixed sclerosis... OMIM:601376
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Endove Syndrome, Limb-Only Type
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... OMIM:619217
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... OMIM:612447
Brachymetatarsus Iv
Short fourth metatarsal, Short 4th toe OMIM:113475
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... ORPHA:93356
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Fibular Aplasia-Ectrodactyly Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the fibula, Split hand ORPHA:1118
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... OMIM:156500
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Hitchhiker thumb, Short metacarpal, Short thumb, Short distal phalanx of finger... OMIM:112450
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling OMIM:600121
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metaphysis, Hip dysplasia, Short ... OMIM:619598
Eiken Syndrome
Abnormal acetabulum morphology, Narrow pelvis bone, Metaphyseal irregularity, Epiphyseal dysplasi... ORPHA:79106
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Fatco Syndrome
Tarsal synostosis, Finger syndactyly, Absent hand, Split hand, Abnormality of fibula morphology, ... ORPHA:2492
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Grant Syndrome
Down-sloping shoulders, Micrognathia, Tibial bowing OMIM:138930
Orofaciodigital Syndrome Iv
Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl... OMIM:258860
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Contracture of the proxima... OMIM:601559
Patella Aplasia-Hypoplasia
Patellar aplasia, Patellar hypoplasia OMIM:168860
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... ORPHA:85188
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... ORPHA:166016
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing OMIM:166740
Caffey Disease
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs OMIM:114000
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Hypoplasia of ... OMIM:147891
Fibular Aplasia-Complex Brachydactyly Syndrome
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... ORPHA:2639
Microcephaly-Micromelia Syndrome
Micrognathia, Talipes equinovarus, Absent radius, Forearm undergrowth, Oligodactyly, Micromelia, ... OMIM:251230
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the radius, Sandal gap, Short humerus,... OMIM:607143
Hydrocephalus With Associated Malformations
Abnormal foot morphology, Micrognathia, Tibial bowing, Short lower limbs, Lower limb undergrowth OMIM:236640
Atelosteogenesis Type Iii
Fibular aplasia, Micrognathia, Club-shaped distal femur, Knee dislocation, Distal tapering femur,... ORPHA:56305
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... ORPHA:2378
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Short thum... OMIM:227270
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Syndactyly, Abnormal pelvis bone morphology, Abnormal foot... ORPHA:1505
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Flared iliac wing, Rhizomelia, Ulnar b... OMIM:602111
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Fibular bowing, Tibial bowing, Bowing of the long bones, Metaphyseal irregularity, De... OMIM:600785
Metaphyseal Acroscyphodysplasia
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... OMIM:250215
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Patellar hypoplasia, Bilateral ... OMIM:119800
Robin Sequence With Cleft Mandible And Limb Anomalies
Tibial deviation of toes, Talipes equinovarus, Short phalanx of finger, Proximal placement of thu... OMIM:268305
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulna... OMIM:608571
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Orofaciodigital Syndrome Ix
Toe syndactyly, Camptodactyly, Short tibia, Hand polydactyly OMIM:258865
Shox-Related Short Stature
Micrognathia, Tibial bowing, Lower limb undergrowth, Genu valgum, Short foot, Ulnar radial head d... ORPHA:314795
Microphthalmia With Limb Anomalies
Talipes equinovarus, Finger syndactyly, Short long bone, Short tibia, Toe syndactyly, Micrognathi... ORPHA:1106
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Genu varum, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widen... ORPHA:2502
Slc35A2-Cdg
Metatarsus adductus, Talipes equinovarus, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:356961
Weismann-Netter Syndrome
Lateral femoral bowing, Fibular bowing, Anterior tibial bowing, Squared iliac bones OMIM:112350
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly OMIM:165590
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... OMIM:613091
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... OMIM:608940
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... OMIM:609945
Ophthalmomandibulomelic Dysplasia
Radial bowing, Fibular hypoplasia, Mesomelia, Lateral humeral condyle aplasia, Coxa valga OMIM:164900
Femoral-Facial Syndrome
Micrognathia, Talipes equinovarus, Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Ab... ORPHA:1988
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... OMIM:171480
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Talipes equinovarus, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, ... OMIM:601027
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Aplasia/Hypoplasia ... ORPHA:3320
Omodysplasia 1
Micrognathia, Rhizomelia, Limited knee flexion/extension, Fibular hypoplasia, Limited knee extens... OMIM:258315
Brachymesomelia-Renal Syndrome
Micrognathia, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia, Hypoplasia of the radius OMIM:113470
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Talipes equinovarus, Camptodactyly of 2nd-5th f... OMIM:206920
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Mesomelic leg shortening, Polysyndactyly of... ORPHA:2751
Boomerang Dysplasia
Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
Eiken Syndrome
Broad metatarsal, Broad femoral neck, Delayed tarsal ossification, Short middle phalanx of finger... OMIM:600002
Dyggve-Melchior-Clausen Disease
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Rhizomelic ar... OMIM:223800
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Postaxial polydactyly, Fibular hypoplasia, Short ribs, Preaxial polydactyly, Hypopl... OMIM:617925
Hypophosphatemic Rickets, X-Linked Dominant
Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularity, Trapezoidal distal f... OMIM:307800
Acrofacial Dysostosis, Rodríguez Type
Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Fin... ORPHA:1788
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Disproportionate shortening of the tibia, Short ribs, Postaxial polysyn... OMIM:263520
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Micrognathia, Tibial bowing, Radial bowing, Abnormality of the lower limb, Lower limb undergrowth... ORPHA:3035
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Short 1st metacarp... ORPHA:96334
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, 11 pairs of ribs, Short humerus, Cl... OMIM:108720
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Fibular bowing, Metaphyseal chondrodysplasia, Femoral bowing, Aplasia/Hypoplasia o... ORPHA:85165
Kyphomelic Dysplasia
Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Fla... OMIM:211350
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Short metatarsal, Short ribs, Broad hallux, Bulbous tips of toes, F... OMIM:304120
Acro-Renal-Mandibular Syndrome
Micrognathia, Hypoplastic scapulae, Hypoplasia of the radius, Finger syndactyly, Split hand, Hip ... ORPHA:958
Fibrochondrogenesis 1
Broad ischia, Broad long bones, Hypoplastic scapulae, Posterior vertebral hypoplasia, Rhizomelia,... OMIM:228520
Phocomelia, Schinzel Type
Fibular aplasia, Micrognathia, Radial bowing, Hand oligodactyly, Talipes, Aplasia of the ulna, Bo... ORPHA:2879
Cousin Syndrome
Fibular aplasia, Toe syndactyly, 2-3 toe syndactyly, Micrognathia, 4-5 toe syndactyly, Talipes eq... OMIM:260660
Schneckenbecken Dysplasia
Diaphyseal thickening, Hypoplastic scapulae, Fibular hypoplasia, Short ribs, Abnormality of the m... ORPHA:3144
Campomelic Dysplasia
Shortening of all phalanges of the toes, Micrognathia, Shortening of all phalanges of fingers, Ta... OMIM:114290
Occipital Horn Syndrome
Aplasia/hypoplasia of the humerus, Absent tibia, Humerus varus, Avascular necrosis of the capital... ORPHA:198
Campomelic Dysplasia
Micrognathia, Tibial bowing, Small abnormally formed scapulae, Talipes equinovarus, Bowing of the... ORPHA:140
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Short p... OMIM:274000
Acrorenal-Mandibular Syndrome
Toe syndactyly, Micrognathia, Hypoplastic scapulae, Missing ribs, Hypoplasia of the radius, Split... OMIM:200980
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Early ossification of capital femoral epiphyses, Hypoplastic iliac wing, Met... OMIM:208500
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/hypoplasia of the extremities, Phocomeli... OMIM:276820
Hydrolethalus Syndrome 1
Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication of phalanx of hallux, Post... OMIM:236680
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia ORPHA:1827
Cranioectodermal Dysplasia 1
Triphalangeal hallux, Rhizomelia, Broad toe, Fibular hypoplasia, Short ribs, Clinodactyly, Radial... OMIM:218330
Camptodactyly Syndrome, Guadalajara, Type I
Hallux valgus, Toe syndactyly, Tubular metacarpal bones, Absent ethmoidal sinuses, Camptodactyly ... OMIM:211910
Orofaciodigital Syndrome Type 4
Micrognathia, Genu varum, Finger syndactyly, Split hand, Postaxial hand polydactyly, Camptodactyl... ORPHA:2753
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Micrognathia, Flexion contracture of toe, Talipes equinovarus, Osteopathia stria... OMIM:300373
Charge Syndrome
Bifid femur, Micrognathia, Absent tibia, Hand monodactyly, Absent radius, Down-sloping shoulders,... OMIM:214800

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 Pkia

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 Pkia.

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

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MGI Allele Allele Type Produced
Pkiatm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Pkiatm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pkiatm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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