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Gene: Wfikkn1 MGI:2670967

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
WAP, FS, Ig, KU, and NTR-containing protein 1
Synonyms:
Gasp2

Order Alleles

IMPC Data Collections

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

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.

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 Wfikkn1 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 Wfikkn1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis, Scoliosis, C... ORPHA:3268
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Unilateral hy... OMIM:173800
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... OMIM:184400
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
Sclerotic vertebral body, Facial palsy, Abnormal rib morphology, Abnormal form of the vertebral b... ORPHA:2790
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver... ORPHA:1354
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... ORPHA:1801
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum, Skeletal muscle hype... OMIM:255710
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm ORPHA:168555
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ... ORPHA:2635
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect OMIM:608681
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Short neck, Abnormal sacrum morphology, Abnormal rib morphology,... ORPHA:2345
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow chest, Flaring o... OMIM:156530
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ribs, Narrow... OMIM:617405
Becker Nevus Syndrome
Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, ... ORPHA:64755
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... OMIM:187760
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... ORPHA:474
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... OMIM:271650
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Short lower ... OMIM:259440
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow ches... OMIM:615633
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... ORPHA:2311
Klippel-Feil Syndrome 1, Autosomal Dominant
Congenital muscular torticollis, Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 v... OMIM:118100
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:1486
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var... OMIM:608940
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... ORPHA:168549
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Upper limb... ORPHA:93351
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Metaphyseal dappling, Hypoplasia... OMIM:184250
Mosaic Trisomy 14
Narrow chest, Abnormal rib morphology, Camptodactyly of finger, Short neck ORPHA:1703
Fibrochondrogenesis 2
Cupped ribs, Metaphyseal widening, Bell-shaped thorax, Platyspondyly, Short ribs, Metaphyseal cup... OMIM:614524
Cooper-Jabs Syndrome
Camptodactyly of finger, Proximal placement of thumb, Congenital diaphragmatic hernia, Missing ri... ORPHA:1488
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Holt-Oram Syndrome
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... ORPHA:392
Diastrophic Dysplasia
Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Proximal placeme... ORPHA:628
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Tapered finger, Short neck, Thin ribs, Irregular vertebral endplates, Pla... OMIM:618395
Achondrogenesis Type 1B
Micromelia, Short neck, Short thorax, Abnormal rib morphology, Short foot, Narrow chest, Talipes ... ORPHA:93298
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal rib... ORPHA:2522
Femoral-Facial Syndrome
Short femur, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Abnormal fibula mor... ORPHA:1988
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Abnormal muscle fiber morphology, Abnormal ... ORPHA:3068
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib morphology, A... ORPHA:2021
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... OMIM:602111
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphology, Short th... ORPHA:1120
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, Ovoid vertebral bodies, ... OMIM:608728
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Abnormal thorax morphology, Flexion contracture, Thin ribs... ORPHA:171430
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... ORPHA:2319
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... OMIM:300863
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odon... OMIM:300232
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... OMIM:223800
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scolio... ORPHA:2180
White Forelock With Malformations
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... ORPHA:2475
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Abnormal clavicle morphology, Hypoplastic scapulae, Co... ORPHA:958
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Rhizomelia, Disc-like vertebral bodies, Dumbbell-shaped long bone, Micromelia, Sho... OMIM:151210
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Lateral clav... OMIM:269250
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck ORPHA:2234
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Grant Syndrome
Bowing of the long bones, Abnormal rib morphology, Narrow chest, Sprengel anomaly, Abnormality of... ORPHA:2097
Mucopolysaccharidosis, Type X
Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspondyly, Posterior scalloping ... OMIM:619698
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ... ORPHA:169189
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Short neck, P... ORPHA:3082
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Hypopl... ORPHA:239
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... ORPHA:2759
Achondrogenesis Type 1A
Multiple rib fractures, Micromelia, Short neck, Short thorax, Short foot, Narrow chest, Short palm ORPHA:93299
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... OMIM:613686
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Abnormal rib morphology, ... ORPHA:3035
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Renpenning Syndrome
Skeletal muscle atrophy, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Cl... ORPHA:3242
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Abnormal for... ORPHA:2876
Mucopolysaccharidosis Type 4
Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Short thorax, Abnormal... ORPHA:582
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Short neck, Abnormal hand... OMIM:200600
Lethal Congenital Contracture Syndrome 5
Thin ribs, Congenital contracture, Flexion contracture, Centrally nucleated skeletal muscle fibers OMIM:615368
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Brachydactyly ORPHA:2643
3M Syndrome
Hypoplasia of the ulna, Scapular winging, Rocker bottom foot, Micromelia, Short neck, Hyperlordos... ORPHA:2616
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Short neck, Coxa valga, Hyperlordosis, Metaphyseal widening, Hypoplasia o... OMIM:253000
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Short neck, Missing ribs, Abnormal rib morphology, Abnormal form... ORPHA:1834
Osteogenesis Imperfecta, Type Ii
Beaded ribs, Thin ribs, Tibial bowing, Bell-shaped thorax, Platyspondyly, Limb undergrowth, Thora... OMIM:166210
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... OMIM:618019
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... ORPHA:2911
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Anterior rib cupping, Dumbbell-shaped long bone, Short neck, Th... OMIM:228520
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal dysplasia, Brachydactyly, Lumbar hyperlordosis, Cupped ribs, Metaphyseal widening, Fl... OMIM:250420
Hypophosphatasia
Bowing of the long bones, Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest ORPHA:436
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Pectus carinatum... OMIM:612921
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Knee flexion contracture, Increased density of long bone diaphyses, Wris... OMIM:305620
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Flexion contracture, Thin ribs, Amyoplasia, Short ... OMIM:312150
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Macroglossia, Broad ribs, Abnormal met... ORPHA:583
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morphology, Osteolytic defects o... ORPHA:2484
Prune Belly Syndrome
Pectus excavatum, Abnormal rib morphology, Aplasia of the abdominal wall musculature, Vertebral s... ORPHA:2970
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Rhizomelia, Beaded ribs, Pla... OMIM:616229
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, ... OMIM:620076
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Lateral clavicle hook, Hypopl... OMIM:617895
Dysosteosclerosis
Clavicular sclerosis, Sclerotic scapulae, Increased intervertebral space, Flared metaphysis, Abno... OMIM:224300
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Split hand, Abnormal rib morphology, Brachydactyly ORPHA:2145
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Flexion contracture, Thin ribs, Amyoplasia, Short ... OMIM:253290
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Decreased muscle mass, Metaphyseal widening, Abnormal thorax morphology, Abnormal form of the ver... ORPHA:73230
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Micromelia ORPHA:2772
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Thin ribs, Metaphyseal cupping of metacarpa... ORPHA:163966
Lethal Congenital Contracture Syndrome 10
Torticollis, Thoracic scoliosis, Short neck, Increased variability in muscle fiber diameter, Femo... OMIM:617022
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, Mi... OMIM:613848
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Anterior ... OMIM:211350
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Diastasis recti, Thoracic hypoplasia ORPHA:254534
Cole-Carpenter Syndrome
Bowing of the long bones, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodie... ORPHA:2050
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Thin ribs, Femoral bowing, Biconcave vertebral bodies, Vertebral compre... OMIM:617952
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the distal phalanges of... ORPHA:1647
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Short thumb, Hypoplasia of... ORPHA:3258
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c... OMIM:620369
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Ky... OMIM:200980
Brachytelephalangic Chondrodysplasia Punctata
Butterfly vertebrae, Cervical kyphosis, Abnormal ossification involving the femoral head and neck... ORPHA:79345
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Finger syndactyly, Congenital muscular torticollis, Arachnodactyly, Camp... ORPHA:2215
Campomelia, Cumming Type
Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal thorax morphology, ... ORPHA:1318
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Hand polydac... ORPHA:2167
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... ORPHA:175
Greenberg Dysplasia
Micromelia, Beaded ribs, Hypoplastic vertebral bodies, Hypoplasia of the calcaneus, Narrow chest,... OMIM:215140
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... OMIM:265000
Osteogenesis Imperfecta, Type Iii
Kyphosis, Thin ribs, Tibial bowing, Scoliosis, Biconcave vertebral bodies OMIM:259420
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... ORPHA:1517
Camptodactyly Syndrome, Guadalajara Type 3
Short neck, Small hand, Abnormal rib morphology, Short foot, Spina bifida occulta, Sternocleidoma... ORPHA:488434
Vacterl/Vater Association
Finger syndactyly, Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Prea... ORPHA:887
Trisomy 1Q
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphragmatic hernia, Preaxia... ORPHA:261344
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Short tubular bones of the hand, Short... OMIM:200610
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Metaphyseal chondrodysplasia, Abnormal rib morphol... ORPHA:93317
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl... OMIM:613091
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... ORPHA:2519
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short ribs, S... OMIM:252600
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Overlapping toe, Diastasis recti, Pectus excavatum, Flexion contracture, Macroglossia, ... ORPHA:254528
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Vertebral segment... ORPHA:96061
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Tibial bowi... OMIM:610915
Pyknoachondrogenesis
Micromelia, Short thorax, Poorly ossified vertebrae, Enlarged thorax, Unossified sacrum, Short ri... ORPHA:3003
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Abnormal... ORPHA:1452
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid vertebral bodies... ORPHA:85167
Radio-Renal Syndrome
Micromelia, Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormal form of the v... ORPHA:3015
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Bifid femur, Abnormal form of... ORPHA:2769
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Irregular ossification of hand bones, H... OMIM:109400
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Knee flexion contr... OMIM:600920
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Ectrodactyly, Narrow chest, Scoliosis ORPHA:3378
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Femoral bowing, Narrow chest ORPHA:83
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Micromelia, Short neck, Coxa vara, Pectus carinatum, Wrist flexion contr... ORPHA:800
Alagille Syndrome
Hypoplasia of the ulna, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral... ORPHA:52
Spondylometaphyseal Dysplasia, Sedaghatian Type
11 pairs of ribs, Short metacarpal, Cone-shaped metacarpal epiphyses, Rhizomelia, Short neck, Irr... OMIM:250220
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Hurler Syndrome
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Abnormal rib morphology, Spina... ORPHA:93473
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... OMIM:263520
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, Short thumb, ... ORPHA:90652
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Split hand, Abnormal rib morphology, Scoliosis ORPHA:1300
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Bowing of the legs, Beaded ribs, Enlargem... ORPHA:89936
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs ORPHA:3301
Monosomy 9Q22.3
Rhabdomyosarcoma, Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of... ORPHA:77301
Myhre Syndrome
Abnormal rib morphology, Skeletal muscle hypertrophy, Platyspondyly, Short palm, Abnormal metaphy... ORPHA:2588
Simpson-Golabi-Behmel Syndrome
Finger syndactyly, Vertebral fusion, Toe syndactyly, Short 2nd finger, Camptodactyly of finger, C... ORPHA:373
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Bowing of the long bones, Abnormal clavicle morphology, Abnorm... ORPHA:249
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplasia/Hypoplasi... OMIM:276820
Aspergillosis
Abnormality of the vertebral column, Abnormal rib morphology ORPHA:1163
Monosomy 9P
Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormality of the tarsal bones, Sh... ORPHA:261112
Osteogenesis Imperfecta
Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Abnormal femur mor... ORPHA:666
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Rhizomelia, Femoral retroversion, Micromelia, Bowing of the legs, Pectus ... OMIM:610682
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Femoral bowing, Narrow chest, Abnormal vertebral morphology, Short metacarpa... ORPHA:95699
Pagod Syndrome
Abnormal clavicle morphology, Abnormal rib morphology, Congenital diaphragmatic hernia ORPHA:991
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, Hypoplasia of the radius, O... ORPHA:3404
Trisomy 18
Camptodactyly of finger, Congenital diaphragmatic hernia, Postaxial hand polydactyly, Abnormal ri... ORPHA:3380
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Rhizomelia, Congenital diaphragmatic hernia, Proximal placement of thumb, Shor... ORPHA:818
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Avascular necrosis of the capital femoral epiphysis, Flexion contra... ORPHA:581
Vater/Vacterl Association
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ... OMIM:192350
Dextrocardia
Abnormal rib morphology ORPHA:1666
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Abnormal rib morphology, Camptodactyly of finger, Abnormal metacarpal morphology ORPHA:2907
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Short 4... ORPHA:2908
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Patellar aplasia, Abnormal rib morphology, Clinodacty... ORPHA:2554
Autosomal Recessive Malignant Osteopetrosis
Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest, Bowing of the long bones ORPHA:667
Alagille Syndrome 1
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... OMIM:118450
Charge Syndrome
Facial palsy, Abnormal tibia morphology, Hemivertebrae, Abnormal rib morphology, Bifid femur, Sco... ORPHA:138
Oculocerebrorenal Syndrome Of Lowe
Kyphosis, Abnormal rib morphology, Genu valgum, Platyspondyly, Scoliosis, Abnormal metaphysis mor... ORPHA:534
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... ORPHA:857
Charge Syndrome
Hypoplasia of the ulna, Facial palsy, Down-sloping shoulders, Absent radius, Short thumb, Hemiver... 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 Wfikkn1

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 Wfikkn1.

No publications found that use IMPC mice or data for Wfikkn1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Wfikkn1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Wfikkn1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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