Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
karyopherin (importin) alpha 6
Synonyms:
importin alpha 7,  IPOA7,  NPI-2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Kpna6 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 Kpna6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Coxa Vara
Coxa vara OMIM:122750
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Blount Disease, Infantile
Abnormality of the proximal tibial epiphysis, Genu varum OMIM:188700
Metaphyseal Anadysplasia 2
Metaphyseal widening, Bowing of the legs, Metaphyseal irregularity, Short femoral neck OMIM:613073
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short femur, Short humerus OMIM:600121
Tibial Torsion, Bilateral Medial
Tibial torsion, Bowing of the legs, Abnormality of tibia morphology OMIM:188800
Nondisjunction
Decreased fertility OMIM:158250
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Genu Valgum, St. Helena Familial
Genu valgum OMIM:137370
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Rhizomelia, S... OMIM:619598
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Pseudoarthrosis, Short tibia OMIM:156230
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly OMIM:246570
Tibial Hemimelia
Absent tibia OMIM:275220
Blount Disease, Adolescent
Genu varum, Bowing of the legs OMIM:259200
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Sho... OMIM:200700
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth, Short tibia, Short long... OMIM:118651
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Fibula, Recurrent Dislocation Of Head Of
Abnormality of fibula morphology OMIM:135800
Blount Disease
Abnormality of the proximal tibial epiphysis, Tibial bowing, Abnormality of the knee, Abnormality... ORPHA:2768
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Flat capital femoral epiphysis, Wide capital femoral epiphyses, Patellar hypoplasia, Pes planus, ... OMIM:147891
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... OMIM:249700
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... ORPHA:2098
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Abnormal foot morphology, Fibular aplasia, Talipes equinovalgus, Short ti... OMIM:605274
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Lytic defects of humeral di... OMIM:601376
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... ORPHA:1972
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Ap... ORPHA:988
Dyschondrosteosis And Nephritis
Ulnar bowing, Radial bowing, Short tibia, Short forearm OMIM:127350
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... OMIM:601560
Endometriosis, Susceptibility To, 1
Endometriosis, Decreased fertility, Dysmenorrhea OMIM:131200
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Broad foot, Fibular duplicati... OMIM:135750
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Short femoral neck, Flared femoral metaphysis, Broad femoral neck, Proximal femoral metaphyseal i... OMIM:609324
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Short tibia, Short femur, Aplasia/Hypop... OMIM:612447
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Genu varum, Short femoral neck, Hypoplasia of the capital ... OMIM:617719
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Metaphyseal irregularity, Delayed ossification of carpal bones, Short femora... OMIM:607078
Brachydactyly Type A2
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... ORPHA:93396
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Fl... ORPHA:93356
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Fibular Hemimelia
Fibular hypoplasia, Limited knee flexion/extension, Short tibia, Increased laxity of ankles, Shor... ORPHA:93323
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Fibular aplasia, Split ... OMIM:113310
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Metaphyseal irregularity, Short femoral neck, Hypoplasia of the odontoid process, Cox... OMIM:184255
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Patellar hypoplasia, Short femoral neck, Broad femoral neck, Irregular patellae, Epip... OMIM:609325
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Brachymetatarsus Iv
Short fourth metatarsal, Short 4th toe OMIM:113475
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Absent tibia, Short hallux, Aplasia/Hypoplasia of the ulna, Split hand... OMIM:119100
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Acheiropodia
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
Fibular Aplasia-Ectrodactyly Syndrome
Abnormality of the ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Epiphyseal Dysplasia, Multiple, 4
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... OMIM:226900
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Brachydactyly, Rhizomelia, Hypoplastic scapulae, Micrognathia, Micromelia, Dumbbell-shaped long b... ORPHA:440354
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Short mi... ORPHA:93409
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Preaxial polydactyly, Mesomelic leg shortening, Oligodactyly, Micr... ORPHA:2756
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Asherman Syndrome
Decreased fertility in females, Infertility, Dysmenorrhea, Miscarriage, Secondary amenorrhea, Met... ORPHA:137686
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Short thumb, Short distal phalanx of finger, Hitchhiker thumb, Sh... OMIM:112450
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... OMIM:228900
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Short femoral neck, Flared iliac wing, Flared humeral metaphysis, Rhizomelia, Flared ... OMIM:183849
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Spermatogenic Failure 12
Azoospermia, Infertility OMIM:615413
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hip dysplasi... ORPHA:93322
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormality of the ulna, Short femoral neck, Aplasia/Hypoplasia of the ... ORPHA:2632
Premature Ovarian Failure 6
Primary amenorrhea, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency, St... OMIM:612310
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Enlargement of the proximal femoral epiphysis, Broad middle phalanx of finger, Metaph... OMIM:156500
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Fibular hypoplasia, 11 pairs of ribs, Triphalangeal thumb, Oligodactyly, Micrognath... OMIM:201170
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Diaphyseal thickening, Ab... ORPHA:1802
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Preaxial foot polydactyly, Abnormality of fibula mo... ORPHA:1988
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Atelosteogenesis Type Ii
Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia, Ulnar deviation of the hand or o... ORPHA:56304
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Tibial bowing, Femoral bowing OMIM:166740
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Delayed epiphyseal ossificat... ORPHA:79106
Grant Syndrome
Tibial bowing, Down-sloping shoulders, Micrognathia OMIM:138930
Epiphyseal Dysplasia, Baumann Type
Metaphyseal irregularity, Hypoplasia of the femoral head, Pes planus, Clinodactyly of the 5th fin... OMIM:610797
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Short femur, Amelia OMIM:601357
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Short metacarpal, Rhizomelia, Short humerus, Deformed humeral heads, Short metatar... OMIM:601438
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly, Micrognathia, Sh... OMIM:258860
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Avascular necrosis of the capital femoral epiphysis, Short femoral neck, Sho... OMIM:132400
Fatco Syndrome
Finger syndactyly, Abnormality of fibula morphology, Absent hand, Abnormality of tibia morphology... ORPHA:2492
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Pelviscapular Dysplasia
Brachydactyly, Mesomelic leg shortening, Hypoplastic scapulae, Congenital hip dislocation, Humero... ORPHA:93333
Kyphomelic Dysplasia
Short metacarpal, Tibial bowing, Dumbbell-shaped humerus, Micrognathia, Micromelia, Ulnar bowing,... OMIM:211350
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Atelosteogenesis, Type I
Vertebral hypoplasia, Talipes, 11 pairs of ribs, Micrognathia, Brachydactyly, Short humerus, Club... OMIM:108720
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... ORPHA:2634
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Micro... ORPHA:166016
Ivic Syndrome
Absent thumb, Carpal synostosis, Hypoplasia of the ulna, Limited interphalangeal movement, Upper ... OMIM:147750
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones OMIM:114000
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Abnormality of femoral epiphysis, Irregular carpal bones, Incr... ORPHA:750
Stuve-Wiedemann Syndrome 1
Talipes, Micrognathia, Short tibia, Bowing of the long bones, Metaphyseal rarefaction, Absent pat... OMIM:601559
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, ... OMIM:227270
Patella Aplasia-Hypoplasia
Patellar hypoplasia, Patellar aplasia OMIM:168860
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Narrow iliac wing, Slender finger, Flattened epiphysis, Metaphyseal irregularity, Short femoral n... OMIM:601668
Hydrocephalus With Associated Malformations
Abnormal foot morphology, Tibial bowing, Micrognathia, Lower limb undergrowth, Short lower limbs OMIM:236640
Congenital Disorder Of Glycosylation, Type Ig
Short ribs, Sandal gap, Rhizomelia, Hypoplasia of the radius, Short tibia, Short humerus, Talipes... OMIM:607143
Fibular Aplasia-Complex Brachydactyly Syndrome
Brachydactyly, Abnormal hip bone morphology, Abnormal thumb morphology, Synostosis of carpal bone... ORPHA:2639
Atelosteogenesis Type Iii
Vertebral hypoplasia, Absent humerus, Absent radius, Epiphyseal stippling of the humerus, Microgn... ORPHA:56305
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Microcephaly-Micromelia Syndrome
Absent radius, Oligodactyly, Micrognathia, Micromelia, Short tibia, Humeroradial synostosis, Fore... OMIM:251230
Laurin-Sandrow Syndrome
Toe syndactyly, Talipes, Finger syndactyly, Absent radius, Absent tibia, Mirror image polydactyly... ORPHA:2378
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Brachydactyly, Short greater sciatic notch, Femoral bowing, Micromelia,... ORPHA:1860
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Metaphyseal cuppin... OMIM:602111
Thalidomide Embryopathy
Radial club hand, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Triphalangea... ORPHA:3312
Weismann-Netter Syndrome
Anterior tibial bowing, Squared iliac bones, Fibular bowing, Lateral femoral bowing OMIM:112350
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Narrow iliac wing, Genu varum, Bowing of the legs, Broad tibial metaphyses, Short palm, Short fem... ORPHA:2502
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Tibial bowing,... OMIM:600785
Ulnar/Fibular Ray Defect And Brachydactyly
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... OMIM:608571
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Atelosteogenesis Type I
Brachydactyly, Rhizomelia, Abnormality of fibula morphology, Micrognathia, Abnormal ossification ... ORPHA:1190
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Short femoral neck, Abnormal foot morpholo... ORPHA:94068
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Bilateral talipes equinovarus, Patellar hypoplasia, Absent tibia, Talipes equinovarus, Mirror ima... OMIM:119800
Orofaciodigital Syndrome Ix
Toe syndactyly, Camptodactyly, Hand polydactyly, Short tibia OMIM:258865
Robin Sequence With Cleft Mandible And Limb Anomalies
Fibular hypoplasia, Short metacarpal, Clinodactyly of the 5th finger, Tibial deviation of toes, S... OMIM:268305
Ophthalmomandibulomelic Dysplasia
Coxa valga, Fibular hypoplasia, Ulnar deviated club hands, Lateral humeral condyle aplasia, Radia... OMIM:164900
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short ribs, Decreased fibular diameter, Micrognathia, Flared metaphysis, Adducted thumb, Limb und... OMIM:616897
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia, Hand oligodactyly OMIM:165590
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Cone-shaped metacarpal epiphyses, Coxa valga, Short palm, Cone-shaped ... OMIM:250215
Shox-Related Short Stature
Ulnar radial head dislocation, Tibial bowing, Micrognathia, Lower limb undergrowth, Forearm under... ORPHA:314795
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Short metacarpal, Rhizomelia,... OMIM:608940
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Microg... ORPHA:1106
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Coxa valga, Abnormality of long bone morph... ORPHA:356961
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Short ribs, Absent ti... OMIM:613091
Multiple Epiphyseal Dysplasia Type 4
Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Delayed femoral head os... ORPHA:93307
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Hypoplastic iliac wing, Short toe, Ha... OMIM:609945
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Radial bowing, ... OMIM:601027
Ring Chromosome Y Syndrome
Azoospermia, Abnormal spermatogenesis, Male hypogonadism, Male infertility, Female infertility, S... ORPHA:261529
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Clinodactyly of the 5th fin... ORPHA:3320
Brachymesomelia-Renal Syndrome
Fibular hypoplasia, Hypoplasia of the radius, Micrognathia, Ulnar bowing, Mesomelic arm shortening OMIM:113470
Boomerang Dysplasia
Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
Omodysplasia 1
Fibular hypoplasia, Rhizomelia, Increased fibular diameter, Limited knee flexion, Micrognathia, L... OMIM:258315
Hypophosphatemic Rickets, X-Linked Dominant
Bowing of the legs, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Trape... OMIM:307800
Microphthalmia With Limb Anomalies
Toe syndactyly, Hand oligodactyly, Postaxial foot polydactyly, Fibular hypoplasia, 4-5 metacarpal... OMIM:206920
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Brachydactyly, Long foot, Short metacarpal, 11 pairs of ribs, Short femur, Bowed humerus, Microgn... OMIM:210710
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia of the mandible, Fibular bowing, ... ORPHA:85165
Atelosteogenesis, Type Iii
Hitchhiker thumb, Widened distal phalanges, Sandal gap, Rhizomelia, Tibial bowing, Micrognathia, ... OMIM:108721
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency OMIM:619518
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Fibular hypop... ORPHA:1788
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad first metatarsal, Y-shaped metacarpals, Cone-shaped epiphyses of the pha... ORPHA:2751
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Abnormality of fibula morphology, Tibial bowing, Micrognathia, Abnormal... ORPHA:3035
Eiken Syndrome
Clinodactyly, Flattened epiphysis, Delayed ossification of carpal bones, Type A1 brachydactyly, F... OMIM:600002
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Hypoplastic pubic bone, Short long bone, Fibular hypoplasia, Short ribs, Preaxial polydactyly, Mi... OMIM:617925
Dyggve-Melchior-Clausen Disease
Genu varum, Pes planus, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Hypoplastic il... OMIM:223800
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Brachydactyly, Disproportionate shortening of the tibia, Short ribs, Postaxial polysyndactyly of ... OMIM:263520
Czech Dysplasia
Flat capital femoral epiphysis, Narrow iliac wing, Narrow femoral neck, Short femoral neck, Short... OMIM:609162
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Metaphyseal spurs, Micrognathia, Hypoplastic iliac ... ORPHA:96334
Pelvis-Shoulder Dysplasia
Hypoplastic ischia, Hypoplastic pubic bone, Absent proximal finger flexion creases, Aplasia/Hypop... ORPHA:2839
Blepharophimosis, Ptosis, And Epicanthus Inversus
Female infertility, Premature ovarian insufficiency, Irregular menstruation, Amenorrhea OMIM:110100
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Irregular metacarpals, Short ribs, Broad hallux,... OMIM:304120
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Talipes, Pes planus, Clinodactyly of the 5th finger, Micrognathia, Broad distal phalanx of finger... OMIM:300990
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Hypoplasia o... ORPHA:958
Fibrochondrogenesis 1
Hypoplastic ischia, Short palm, Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly ... OMIM:228520
Phocomelia, Schinzel Type
Bowing of the long bones, Talipes, Hand oligodactyly, Aplasia/Hypoplasia involving the pelvis, Hy... ORPHA:2879
Cousin Syndrome
Hypoplastic ischia, Toe syndactyly, Hypoplastic pubic bone, 4-5 toe syndactyly, 2-3 toe syndactyl... OMIM:260660
Schneckenbecken Dysplasia
Advanced tarsal ossification, Hypoplastic vertebral bodies, Fibular hypoplasia, Short ribs, Incre... ORPHA:3144
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short femur, Short humerus, Polydactyly ORPHA:17
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Occipital Horn Syndrome
Brachydactyly, Coxa valga, Short palm, Absent tibia, Pes planus, Aplastic clavicle, Abnormality o... ORPHA:198
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia involving the carpal bones, Aplasia of the ulna, Carpal bone aplasia, Aplasia/... OMIM:276820
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Fibular hypoplasia, 11 pairs of ribs, Tibial... ORPHA:140
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Micrognathia, Patellar dislocation... OMIM:274000
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Toe syndactyly, Missing ribs, Foot polydactyly, Hypoplasia of the ulna, Hypop... OMIM:200980
Wiedemann-Rautenstrauch Syndrome
Long foot, Long toe, Large hands, Micrognathia, Long fingers, Short humerus, Short femur, Hypopla... OMIM:264090
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Brachydactyly, Irregular epiphyses, Metaphyseal irregularity, Hypoplasia of the ulna, Foot polyda... OMIM:208500
Aromatase Deficiency
Female infertility, Hypergonadotropic hypogonadism, Primary amenorrhea, Male infertility ORPHA:91
Hydrolethalus Syndrome 1
Upper limb undergrowth, Duplication of phalanx of hallux, Micrognathia, Proximal tibial hypoplasi... OMIM:236680
Acromelic Frontonasal Dysplasia
Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly ORPHA:1827
Campomelic Dysplasia
Narrow iliac wing, Absent sternal ossification, Fibular hypoplasia, Pes planus, 11 pairs of ribs,... OMIM:114290
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency, H... ORPHA:572333
Wiedemann-Rautenstrauch Syndrome
Thin long bone diaphyses, 2-3 toe syndactyly, Long toe, Hypoplastic vertebral bodies, Short femur... ORPHA:3455
8Q24.3 Microdeletion Syndrome
Pes valgus, Talipes, Long toe, Rocker bottom foot, Pes planus, Clinodactyly of the 5th finger, Sh... ORPHA:508488
Femoral-Facial Syndrome
Toe syndactyly, Missing ribs, Absent vertebra, Hypoplastic acetabulae, Micrognathia, Radioulnar s... OMIM:134780
Camptodactyly Syndrome, Guadalajara, Type I
Brachydactyly, Toe syndactyly, Short palm, Short femoral neck, Fibular hypoplasia, Twelfth rib hy... OMIM:211910
Cranioectodermal Dysplasia 1
Brachydactyly, Clinodactyly, Flattened epiphysis, Broad toe, Broad distal phalanges of all finger... OMIM:218330
Familial Osteodysplasia, Anderson Type
Missing ribs, Clinodactyly of the 5th finger, Aplastic clavicle, Bifid femur, Aplasia/hypoplasia ... ORPHA:2769
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Brachydactyly, Abnormal distal phalanx morphology of finger, Short palm, Clinodactyly of the 5th ... ORPHA:2636
Orofaciodigital Syndrome Type 4
Genu varum, Finger syndactyly, Aplasia/Hypoplasia of the mandible, Micrognathia, Micromelia, Apla... ORPHA:2753
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Fibular hypoplasia, Clinodactyly of the 5th finger, Osteopathia stria... OMIM:300373
Kinsship Syndrome
Coxa valga, Fibular hypoplasia, Pes planus, Dislocated radial head, Micrognathia, Polydactyly, Me... OMIM:619297
Turner Syndrome
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility ORPHA:881
Mosaic Monosomy X
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility ORPHA:99228
Monosomy X
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility ORPHA:99413
Charge Syndrome
Bilateral talipes equinovarus, Hypoplasia of the ulna, Absent radius, Absent tibia, Short thumb, ... 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 Kpna6

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 Kpna6.

No publications found that use IMPC mice or data for Kpna6.

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MGI Allele Allele Type Produced
Kpna6em1(IMPC)Wtsi Point Mutation Mice
Kpna6tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Kpna6tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kpna6tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kpna6tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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