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

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 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
Sprengel Deformity
Cervical segmentation defect, Shoulder muscle hypoplasia, Neck muscle hypoplasia, Hemivertebrae, ... OMIM:184400
Poland Syndrome
Unilateral hypoplasia of pectoralis major muscle, Hemivertebrae, Hypoplasia of deltoid muscle, Sh... OMIM:173800
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Facial palsy, Clavicular scleros... ORPHA:2790
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Abnormal rib morphology, Pectus carinatum ORPHA:3268
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral segmentation defec... OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral clefting, Rib fusion, Short neck, Vertebral segmentation defect OMIM:608681
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Abnormal vertebral segmentation ... ORPHA:2345
Myotonia With Skeletal Abnormalities And Mental Retardation
Firm muscles, Skeletal muscle hypertrophy, Vertebral wedging, Pectus carinatum, Kyphoscoliosis, B... OMIM:255710
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... OMIM:277300
Heart Defects-Limb Shortening Syndrome
Abnormal form of the vertebral bodies, Narrow chest, Abnormal rib morphology, Kyphosis ORPHA:1354
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... ORPHA:1145
Metatropic Dysplasia
Long thorax, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Kyph... ORPHA:2635
Spondylocostal Dysostosis 5
Butterfly vertebrae, Vertebral fusion, Pectus carinatum, Hemivertebrae, Posterior rib fusion, Mis... OMIM:122600
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Posterior rib fusion, Short thorax, Missing ribs, Spina bifida occult... ORPHA:1797
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Abnormal form of the vertebral bodies, Short thorax,... ORPHA:1801
Becker Nevus Syndrome
Pectus excavatum, Pectus carinatum, Shoulder girdle muscle atrophy, Kyphosis, Supernumerary ribs,... ORPHA:64755
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Limb muscle weakness, Fusion of midcervical facet joints, Cervical vertebral bodies with decrease... OMIM:606842
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Block vertebrae, Missing ri... OMIM:613686
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Lethal Congenital Contracture Syndrome Type 1
Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology, Skeletal muscle atrophy ORPHA:1486
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Platyspondyly ORPHA:168555
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Rib segmentation abnorm... ORPHA:2311
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Irregular chondrocostal junctions, Irregular vertebral endplates, Short ribs, Be... OMIM:187760
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Osteogenesis Imperfecta, Type Ix
Pectus excavatum, Pectus carinatum, Platyspondyly, Kyphosis, Beaded ribs, Scoliosis OMIM:259440
Mosaic Trisomy 14
Short neck, Narrow chest, Abnormal rib morphology, Camptodactyly of finger ORPHA:1703
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Abnormal clavicle morphology, Kyphosis, Fused cervical vertebrae, Abnormal rib ... ORPHA:2522
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Missing ribs, Abnormal rib morphology, Camptodactyly of finger, ... ORPHA:1488
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Short neck, Vertebral segmentation defect, Abnormal rib morphology ORPHA:2578
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Abnormal rib morphology, Camptodactyly of finger ORPHA:1836
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Scoliosis, Hemivertebrae OMIM:604919
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Skeletal muscle atrophy, Pectus carinatum, Facial palsy, Abnorm... ORPHA:3068
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Sprengel anomaly, Short neck, Scoliosis OMIM:214300
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Lateral clavicle hook, Narrow chest, Bell-shaped thorax, Thoracic dysplasia OMIM:615633
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Prominent sternum ORPHA:2140
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Thin ribs, Facial diplegia, Facial palsy, Arthrogryposis multiplex conge... ORPHA:171430
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Platyspondyly, Narrow chest, Abnormal rib morphology, Short neck ORPHA:93267
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Thin ribs, Flexion contracture, Congenital contracture OMIM:615368
Jeune Syndrome
Abnormal sternum morphology, Abnormal clavicle morphology, Short thorax, Narrow chest, Abnormal r... ORPHA:474
Axial Spondylometaphyseal Dysplasia
Thoracic hypoplasia, Flaring of lower rib cage, Posterior wedging of vertebral bodies, Aplasia/Hy... ORPHA:168549
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Fibrochondrogenesis
Hypoplastic scapulae, Abnormal form of the vertebral bodies, Short ribs, Narrow chest, Abnormal r... ORPHA:2021
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Short ribs, Narrow chest, Severe platyspondyly, Disc-like vertebral bodies, Short neck OMIM:151210
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Thin ribs, Abnormality of the foot musculature, EMG: myo... ORPHA:169189
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hemivertebrae, Abnormal form of the vertebral bodies, Sprengel anomaly, Abnormal rib morphology, ... ORPHA:2180
Achondrogenesis Type 1B
Short neck, Narrow chest, Short thorax, Abnormal rib morphology ORPHA:93298
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormal vertebral segmentation and fusion, Cervical C2/C3 vertebral fusion, Sprengel anomaly, Sh... OMIM:118100
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Missing ribs, Abnormal ri... ORPHA:1834
Diastrophic Dysplasia
Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Kyphosis, Abnormal rib morph... ORPHA:628
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology, Hemivertebrae ORPHA:2234
Renpenning Syndrome
Sprengel anomaly, Pectus excavatum, Abnormal rib morphology, Skeletal muscle atrophy ORPHA:3242
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Platyspondyly, Cupped ribs, Scoliosis... OMIM:609616
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Pectus carinatum, Limb muscle weakness, Beaking of vertebral... ORPHA:239
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Vertebral segmentation defect, Abnormal rib morphology ORPHA:1120
Grant Syndrome
Abnormality of the glenoid fossa, Sprengel anomaly, Narrow chest, Abnormal rib morphology ORPHA:2097
White Forelock With Malformations
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology ORPHA:2475
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Thin ribs, Amyoplasia, Flexion contracture, Abnormal cervical curvature OMIM:312150
Acro-Renal-Mandibular Syndrome
Butterfly vertebrae, Thin ribs, Hypoplastic scapulae, Pectus carinatum, Hemivertebrae, Congenital... ORPHA:958
Hyperparathyroidism, Transient Neonatal
Narrow chest, Thin ribs, Short ribs OMIM:618188
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Thin ribs OMIM:618265
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:93941
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Thin ribs, Amyoplasia, Flexion contracture, Abnormal cervical curvature OMIM:253290
Femoral-Facial Syndrome
Abnormal sacrum morphology, Sprengel anomaly, Abnormal rib morphology, Rib fusion, Vertebral segm... ORPHA:1988
Frontometaphyseal Dysplasia 1
Ankle flexion contracture, Skeletal muscle atrophy, Coat hanger sign of ribs, Knee flexion contra... OMIM:305620
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Missing ribs, Abnormal rib morphology, Hemivertebrae ORPHA:2759
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Thin ribs, Platyspondyly, Prominent sternum, Thoracic kyphosis, Flexion con... OMIM:300232
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Fused cervical vertebrae, Flexion contracture, Short neck, Scoliosis OMIM:618469
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Biconcave vertebral bodies, Short clavicles, Short ribs, Broad ribs, Short neck, Scoliosis OMIM:610319
Prune Belly Syndrome
Pectus excavatum, Abnormal rib morphology, Vertebral segmentation defect, Scoliosis, Aplasia of t... ORPHA:2970
Mucopolysaccharidosis Type 6
Macroglossia, Ovoid vertebral bodies, Kyphosis, Broad ribs, Short neck ORPHA:583
Three M Syndrome 2
Thin ribs, Pectus carinatum, Short thorax, Hyperlordosis, Scapular winging, Short neck, Lumbar hy... OMIM:612921
3M Syndrome
Horizontal ribs, Thin ribs, Short thorax, Kyphosis, Hyperlordosis, Enlarged thorax, Scapular wing... ORPHA:2616
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal rib morphology, Platyspondyly, Pectus carinatum ORPHA:93351
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Thoracic hypoplasia, Diastasis recti, Coat hanger sign of ribs ORPHA:254534
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Irregular vertebral endplates, Platyspondyly, Short neck, Scoliosis OMIM:618395
Osteogenesis Imperfecta, Type Xvi
Beaded ribs, Vertebral compression fracture OMIM:616229
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology ORPHA:2643
Achondrogenesis, Type Ia
Short clavicles, Hypoplastic scapulae, Unossified vertebral bodies, Short ribs, Beaded ribs, Shor... OMIM:200600
Holt-Oram Syndrome
Pectus excavatum, Abnormal clavicle morphology, Kyphosis, Sprengel anomaly, Down-sloping shoulder... ORPHA:392
Juberg-Hayward Syndrome
Abnormal rib morphology, Scoliosis, Abnormal vertebral morphology ORPHA:2319
Fibrochondrogenesis 1
Thin clavicles, Long clavicles, Thoracic hypoplasia, Anterior rib cupping, Thin ribs, Hypoplastic... OMIM:228520
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Pectus carinatum, Short thorax, Platyspondyly, Kyphosis, Abnormal rib morp... ORPHA:582
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Ovoid vertebral bodies, Cupped ribs, Severe platyspondyly, Scoliosis OMIM:608940
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy, Thin ribs OMIM:300219
Phaver Syndrome
Abnormal form of the vertebral bodies, Abnormal rib morphology, Camptodactyly of finger, Butterfl... ORPHA:2876
Osteogenesis Imperfecta, Type Ii
Thoracic hypoplasia, Thin ribs, Platyspondyly, Beaded ribs, Bell-shaped thorax OMIM:166210
Achondrogenesis, Type Ii
Horizontal ribs, Barrel-shaped chest, Short ribs, Absent vertebral body mineralization OMIM:200610
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short neck, Abnormal rib morphology, Pectus carinatum, Kyphosis ORPHA:3082
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Flexion contracture OMIM:614833
Poland Syndrome
Pectus carinatum, Hemivertebrae, Abnormal sternum morphology, Asymmetry of the thorax, Congenital... ORPHA:2911
Mucopolysaccharidosis, Type Vi
Anterior wedging of L1, Macroglossia, Anterior wedging of L2, Prominent sternum, Ovoid vertebral ... OMIM:253200
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Vertebral fusion, Hemivertebrae, Missing ribs, Short ribs, Supernumerary vertebrae, Bl... OMIM:271520
Dysosteosclerosis
Increased intervertebral space, Irregular vertebral endplates, Sclerotic scapulae, Short ribs, Pl... OMIM:224300
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology ORPHA:2772
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Missing ribs, Abnormal rib morphology ORPHA:1647
Hypophosphatasia
Narrow chest, Abnormal rib morphology ORPHA:436
Mucopolysaccharidosis, Type Iva
Cervical subluxation, Platyspondyly, Prominent sternum, Kyphosis, Ovoid vertebral bodies, Hyperlo... OMIM:253000
Mucopolysaccharidosis, Type Ivb
Cervical subluxation, Platyspondyly, Prominent sternum, Kyphosis, Ovoid vertebral bodies, Hyperlo... OMIM:253010
Vacterl/Vater Association
Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Abnormal sacrum morphol... ORPHA:887
Pyknoachondrogenesis
Poorly ossified vertebrae, Horizontal ribs, Short thorax, Short ribs, Unossified sacrum, Enlarged... ORPHA:3003
Lethal Congenital Contracture Syndrome 10
Torticollis, Narrow chest, Broad ribs, Thoracic scoliosis, Short neck OMIM:617022
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Decreased muscle mass, Thin ribs, Abnormal form of the vertebral bodies, Abnormal thorax morpholo... ORPHA:73230
Cerebrofaciothoracic Dysplasia
Bifid ribs, Hemivertebrae, Sprengel anomaly, Narrow chest, Rib fusion, Short neck, Vertebral segm... ORPHA:1394
Melnick-Needles Syndrome
Short clavicles, Short thorax, Anisospondyly, Narrow chest, Abnormal rib morphology, Scoliosis ORPHA:2484
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology ORPHA:2145
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Thoracic hypoplasia, Pectus excavatum, Macroglossia, Coat hanger sign of ribs, Prominent sternum,... ORPHA:254528
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Agenesis of the diaphragm, Abnormal thorax morphology OMIM:601027
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Abnormal rib morphology, Scoliosis, Kyphosis ORPHA:2050
Sclerosteosis 1
Facial palsy, Sclerotic scapulae, Broad ribs, Broad clavicles, Sclerotic vertebral endplates OMIM:269500
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia, Short clavicles, Hypoplastic scapulae OMIM:618022
Multiple Pterygium Syndrome, Escobar Variant
Long clavicles, Bilateral camptodactyly, Anterior clefting of vertebral bodies, Congenital diaphr... OMIM:265000
Pontine Tegmental Cap Dysplasia
Hemivertebrae, Facial palsy, Scoliosis, Rib fusion OMIM:614688
Mosaic Trisomy 8
Arthrogryposis multiplex congenita, Narrow chest, Abnormal rib morphology, Camptodactyly of finge... ORPHA:96061
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Acrorenal-Mandibular Syndrome
Butterfly vertebrae, Thin ribs, Hypoplastic scapulae, Hemivertebrae, Congenital diaphragmatic her... OMIM:200980
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Broad ribs, Abnormal rib morphology, Short ribs ORPHA:2519
Osteogenesis Imperfecta, Type X
Thin ribs, Platyspondyly, Vertebral compression fracture, Narrow chest, Broad ribs, Scoliosis OMIM:613848
Osteogenesis Imperfecta, Type Xviii
Biconcave vertebral bodies, Vertebral compression fracture, Thin ribs OMIM:617952
Craniorachischisis
Congenital diaphragmatic hernia, Bifid sternum ORPHA:63260
Camptodactyly Syndrome, Guadalajara Type 3
Short neck, Spina bifida occulta, Abnormal rib morphology, Sternocleidomastoid amyotrophy ORPHA:488434
Microphthalmia, Syndromic 3
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Missing ribs, Vertebral hypoplasia, Supernu... OMIM:206900
Trisomy 13
Narrow chest, Abnormal rib morphology, Scoliosis, Kyphosis ORPHA:3378
Trisomy 1Q
Congenital diaphragmatic hernia, Abnormal rib morphology, Short thorax, Camptodactyly of finger ORPHA:261344
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:2167
Hurler Syndrome
Spinal canal stenosis, Abnormal vertebral morphology, Macroglossia, Abnormal clavicle morphology,... ORPHA:93473
Cartilage-Hair Hypoplasia
Flaring of lower rib cage, Aplasia/Hypoplasia of the abdominal wall musculature, Pectus carinatum... ORPHA:175
Multiple Pterygium-Malignant Hyperthermia Syndrome
Pectus excavatum, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Kyphosis, Abnormal... ORPHA:2215
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Vertebral fusion, Hemivertebrae, 11 pairs of ribs, Narrow chest, Rib fusion, Short neck, Scoliosis ORPHA:94095
Campomelia, Cumming Type
Abnormally ossified vertebrae, Abnormal rib morphology, Abnormal thorax morphology ORPHA:1318
Schwartz-Jampel Syndrome
Pectus excavatum, Shoulder flexion contracture, Skeletal muscle atrophy, Flexion contracture of t... ORPHA:800
Alagille Syndrome
Abnormal form of the vertebral bodies, Spina bifida occulta, Abnormal rib morphology, Butterfly v... ORPHA:52
Antley-Bixler Syndrome
Narrow chest, Abnormal rib morphology, Camptodactyly of finger ORPHA:83
Familial Osteodysplasia, Anderson Type
Abnormal form of the vertebral bodies, Missing ribs, Aplastic clavicle, Kyphosis, Abnormal rib mo... ORPHA:2769
Cenani-Lenz Syndrome
Abnormal form of the vertebral bodies, Abnormal rib morphology, Scoliosis ORPHA:3258
Diaphragmatic Hernia 2
Congenital diaphragmatic hernia, Agenesis of the diaphragm OMIM:222400
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Missing ribs, Abnormal rib morphology ORPHA:3301
Osteogenesis Imperfecta, Type Viii
Thin ribs, Platyspondyly, Kyphosis, Barrel-shaped chest, Vertebral compression fracture, Scoliosis OMIM:610915
Cleidocranial Dysplasia
Short clavicles, Hypoplastic scapulae, Abnormal sacrum morphology, Down-sloping shoulders, Narrow... ORPHA:1452
Monosomy 9Q22.3
Abnormality of the vertebral column, Pectus excavatum, Rhabdomyosarcoma, Kyphosis, Abnormal rib m... ORPHA:77301
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Abnormal rib morphology, Platyspondyly, Abnormal scapula morphology ORPHA:93317
Aspergillosis
Abnormality of the vertebral column, Abnormal rib morphology ORPHA:1163
Radio-Renal Syndrome
Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:3015
Pagod Syndrome
Congenital diaphragmatic hernia, Abnormal clavicle morphology, Abnormal rib morphology ORPHA:991
Myhre Syndrome
Platyspondyly, Abnormal rib morphology, Skeletal muscle hypertrophy ORPHA:2588
Monosomy 9P
Abnormality of the vertebral column, Congenital diaphragmatic hernia, Abnormal rib morphology, Sh... ORPHA:261112
Otopalatodigital Syndrome Type 2
Abnormal vertebral segmentation and fusion, Narrow chest, Abnormal rib morphology, Camptodactyly ... ORPHA:90652
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology, Scoliosis ORPHA:1300
Simpson-Golabi-Behmel Syndrome
Pectus excavatum, Aplasia/Hypoplasia of the abdominal wall musculature, Vertebral fusion, Macrogl... ORPHA:373
Trisomy 18
Congenital diaphragmatic hernia, Abnormal rib morphology, Camptodactyly of finger ORPHA:3380
Osteogenesis Imperfecta
Biconcave vertebral bodies, Thoracic hypoplasia, Pectus excavatum, Thin ribs, Pectus carinatum, M... ORPHA:666
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormality of the cervical spine, Abnormal lumbar spine morphology... ORPHA:249
Mucopolysaccharidosis Type 3
Macroglossia, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Abnormal rib m... ORPHA:581
Dextrocardia
Abnormal rib morphology ORPHA:1666
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Abnormal vertebral morphology, Narrow chest, Abnormal rib morphology, Flexi... ORPHA:95699
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Kyphosis, Abnormal rib mo... ORPHA:818
Hereditary Acrokeratotic Poikiloderma
Abnormal rib morphology, Camptodactyly of finger ORPHA:2907
Kindler Epidermolysis Bullosa
Abnormal rib morphology, Flexion contracture, Camptodactyly of finger ORPHA:2908
Ear-Patella-Short Stature Syndrome
Abnormal rib morphology, Aplastic clavicle, Camptodactyly of finger ORPHA:2554
Ulbright-Hodes Syndrome
Ovoid thoracolumbar vertebrae, Thin ribs, Short ribs, Short sternum, Abnormal rib morphology, Sho... ORPHA:3404
Charge Syndrome
Facial palsy, Scoliosis, Abnormal rib morphology, Hemivertebrae ORPHA:138
Oculocerebrorenal Syndrome Of Lowe
Abnormal rib morphology, Platyspondyly, Scoliosis, Kyphosis ORPHA:534
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Abnormal rib morphology ORPHA:667
Townes-Brocks Syndrome
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:857

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.

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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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