Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
spondin 1, (f-spondin) extracellular matrix protein
Synonyms:
D330035F22Rik,  FSP

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 Spon1 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 Spon1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Elevated circulating C-reactive protein concentration, Patchy reductio... ORPHA:57196
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Familial Expansile Osteolysis
Bowing of the long bones, Osteolysis, Thin bony cortex, Pathologic fracture OMIM:174810
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Osteolysis ORPHA:2776
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal cortic... ORPHA:970
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Juvenile Hyaline Fibromatosis
Joint stiffness, Progressive flexion contractures, Osteolysis, Abnormal diaphysis morphology ORPHA:2028
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Osteosarcoma
Abnormal femoral metaphysis morphology, Pathologic fracture, Abnormal tibial metaphysis morpholog... ORPHA:668
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Osteoporosis, Flexion contracture, Osteolysis OMIM:228600
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Gorham-Stout Disease
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal femur morphology,... ORPHA:73
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclerosis of the iliac wing, De... OMIM:611497
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Short 4th metaca... ORPHA:50809
Rosaï-Dorfman Disease
Osteolysis ORPHA:158014
Ollier Disease
Joint stiffness, Abnormal metaphysis morphology, Micromelia, Osteolysis ORPHA:296
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Abnormal epiphysis morphology, Slender long bone, Carpal osteolysis, Camptodactyly of finger, Met... ORPHA:2774
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis ORPHA:100024
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to... OMIM:602080
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Osteolysis, Abnormal hip bone morphology, Gen... ORPHA:93160
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Keratoderma Hereditarium Mutilans
Autoamputation of digits, Osteolysis ORPHA:494
Dermatoosteolysis, Kirghizian Type
Abnormal diaphysis morphology, Brachydactyly, Osteoarthritis, Tarsal synostosis, Abnormal metaphy... ORPHA:1657
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Metaphyseal irregul... ORPHA:174
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal epiphysis morphology, Craniofacial osteosclerosis, Osteomyelitis, Hyperostosis, Abnormal... ORPHA:324964
Ramon Syndrome
Osteolysis ORPHA:3019
Frank-Ter Haar Syndrome
Camptodactyly of finger, Joint stiffness, Abnormal metacarpal morphology, Brachydactyly, Clinodac... ORPHA:137834
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Pathologic fracture, Increased susceptibility to fractures, Abnormal long bone morphology, Elevat... ORPHA:52430
Tenosynovial Giant Cell Tumor
Limitation of joint mobility, Abnormal shoulder morphology, Localized osteoporosis, Abnormal hip ... ORPHA:66627
Infantile Myofibromatosis
Limitation of joint mobility, Bone cyst, Osteolysis, Abnormal metaphysis morphology ORPHA:2591
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o... ORPHA:75508
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Abnormal hand morphology, Osteolysis involving tarsal bones, Incre... ORPHA:371428
Desmoid Tumor
Limitation of joint mobility, Osteolysis ORPHA:873
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Osteolysis OMIM:176670
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... ORPHA:93356
Classic Hodgkin Lymphoma
Osteolysis ORPHA:391
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures OMIM:615066
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration, Os... OMIM:612852
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal... OMIM:156500
Osteopetrosis, Autosomal Dominant 1
Abnormal pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosclerosi... OMIM:607634
Fibrous Dysplasia Of Bone
Rickets, Osteomalacia, Abnormal tibia morphology, Cortical irregularity, Abnormal pelvis bone mor... ORPHA:249
Maffucci Syndrome
Recurrent fractures, Osteolysis ORPHA:163634
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Fibular bowing, Femoral bowing, Tibi... OMIM:600081
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300554
Pachydermoperiostosis
Small hand, Clubbing of toes, Abnormal epiphysis morphology, Limitation of joint mobility, Osteol... ORPHA:2796
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Anterior tib... OMIM:112350
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Fractures o... OMIM:166600
Diffuse Cutaneous Systemic Sclerosis
Flexion contracture, Narrow foramen obturatorium, Osteolysis, Arthritis ORPHA:220393
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Limitation of joint mobility, Acroosteolysis of distal phalanges ... ORPHA:90153
Nestor-Guillermo Progeria Syndrome
Pathologic fracture, Joint stiffness, Mandibular osteolysis, Limited elbow movement, Osteoporosis... OMIM:614008
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas... OMIM:619598
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal fingertip morphology, Short distal phalanx of finger, Acroosteolysis of distal phalanges... ORPHA:90154
Mucolipidosis Type Iii Alpha/Beta
Joint stiffness, Generalized osteoporosis, Flexion contracture, Osteolysis ORPHA:423461
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... ORPHA:3329
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Ankylosis, Osteolysis ORPHA:659
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Thin bony co... OMIM:619638
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Fibular bowing, Femoral bowing, Hypo... OMIM:241530
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio... ORPHA:93323
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Abnormal fibula morphology, Short... ORPHA:198
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Aggressive Systemic Mastocytosis
Pathologic fracture, Osteoporosis, Osteolysis ORPHA:98850
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Osteolysis ORPHA:100026
Gaucher Disease Type 1
Elevated circulating CCL18 level, Osteopenia, Erlenmeyer flask deformity of the femurs, Increased... ORPHA:77259
Felty Syndrome
Synovitis, Limitation of joint mobility, Osteolysis, Arthritis ORPHA:47612
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Sapho Syndrome
Craniofacial osteosclerosis, Osteomyelitis, Recurrent fractures, Hyperostosis, Synovitis, Abnorma... ORPHA:793
Bruck Syndrome 2
Osteopenia, Elbow flexion contracture, Femoral bowing, Increased susceptibility to fractures, Kne... OMIM:609220
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Micromelia, Metaphyseal spurs, Irregular epiphyses, Small epiphyses, Femoral bowing, Limited elbo... OMIM:608728
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Osteopenia, Femoral bowing, Recurrent fractures OMIM:126550
Kaposiform Lymphangiomatosis
Fractures of the long bones, Osteolysis, Abnormal femur morphology, Abnormal ischium morphology, ... ORPHA:464329
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis, Abnormal metaphysis morphology ORPHA:1522
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Fibul... OMIM:264700
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap... OMIM:307800
Chromomycosis
Ankylosis, Osteolysis ORPHA:182
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Clinodactyly, Brachydactyly, Osteolysis involving bones of the upper limbs, Camptodactyly, Flexio... ORPHA:88630
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Fibul... OMIM:277440
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300009
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... ORPHA:83451
Papillon-Lefèvre Syndrome
Arachnodactyly, Osteolysis ORPHA:678
Erdheim-Chester Disease
Abnormal epiphysis morphology, Osteomyelitis, Increased bone mineral density, Abnormal metaphysis... ORPHA:35687
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Hip... ORPHA:464321
Mixed Connective Tissue Disease
Joint stiffness, Osteolysis, Arthritis ORPHA:809
Alpha-Mannosidosis, Infantile Form
Osteopenia, Cranial hyperostosis, Joint stiffness, Genu valgum, Cortical thickening of long bone ... ORPHA:309282
Osteogenesis Imperfecta, Type Xviii
Femoral bowing, Joint hypermobility, Bowing of the long bones, Thin bony cortex, Generalized oste... OMIM:617952
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Increased bone mineral densi... ORPHA:289176
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Hip dislocation, Clubbing of toes, Aplastic clav... ORPHA:3474
Hajdu-Cheney Syndrome
Osteopenia, Short distal phalanx of finger, Coarse metaphyseal trabecularization, Short toe, Recu... ORPHA:955
H Syndrome
Camptodactyly, Recurrent fractures, Hallux valgus, Osteolysis ORPHA:168569
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Short hallux, Dislocated radial head, Hip dislocation... OMIM:311300
Familial Dysautonomia
Recurrent fractures, Osteolysis ORPHA:1764
Incontinentia Pigmenti
Deviation of finger, Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent... ORPHA:464
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Genu valgum, Osteopetrosis, Decrea... OMIM:259710
Osteopetrosis, Autosomal Recessive 9
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis OMIM:620366
Osteogenesis Imperfecta, Type Viii
Osteopenia, Radial bowing, Slender long bone, Femoral bowing, Recurrent fractures, Tibial bowing,... OMIM:610915
Osteogenesis Imperfecta, Type Xiii
Wide distal femoral metaphysis, Femoral bowing, Wide pubic symphysis, Recurrent fractures, Joint ... OMIM:614856
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Limitation of joint mobility, Hypoplastic iliac wing, Genu valgum, Multicen... OMIM:223800
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short clavicles, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phal... OMIM:608612
Porphyria, Congenital Erythropoietic
Pathologic fracture, Osteopenia, Joint contracture of the hand, Osteolysis OMIM:263700
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Proximal femoral epiphysiolysis, Short fourth metatarsal, Small epiphyses, Overlappin... OMIM:616723
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Osteomalacia, Femoral bo... ORPHA:289157
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Short distal phalanx of finger, Elbow flexion contracture, Joint stiffness, Down-slop... OMIM:248370
Gaucher Disease Type 3
Increased bone mineral density, Increased susceptibility to fractures, Osteolysis ORPHA:77261
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Narrow iliac wing, Flexion contracture, Bone cyst, Osteolysis ORPHA:3042
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Bone cyst, Osteolysis ORPHA:2396
Gaucher Disease
Osteopenia, Increased circulating ferritin concentration, Pathologic fracture, Osteomyelitis, Joi... ORPHA:355
Chikungunya
Periostitis, Joint stiffness, Synovitis, Arthritis, Enthesitis, Stiff interphalangeal joints, Ost... ORPHA:324625
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Micromelia, Femoral bowing, Dumbbell-shaped long bone, Brachyda... ORPHA:440354
Coccidioidomycosis
Osteomyelitis, Abnormal long bone morphology, Abnormal metacarpal morphology, Arthritis, Broad me... ORPHA:228123
Osteogenesis Imperfecta, Type I
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Joint hypermobility, Hip dyspl... OMIM:166200
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Cryptococcosis
Osteomyelitis, Osteolysis ORPHA:1546
Osteopetrosis, Autosomal Recessive 1
Flared metaphysis, Pathologic fracture, Osteomyelitis, Femur fracture, Osteopetrosis, Calvarial o... OMIM:259700
Dent Disease
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Sparse bone trabeculae... ORPHA:1652
Osteogenesis Imperfecta, Type Iv
Femoral bowing present at birth, straightening with time, Increased susceptibility to fractures, ... OMIM:166220
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe... OMIM:620076
Mosaic Variegated Aneuploidy Syndrome
Clinodactyly of the 5th finger, Osteolysis ORPHA:1052
Campomelic Dysplasia
Small abnormally formed scapulae, Tracheomalacia, Femoral bowing, Recurrent fractures, Tibial bow... ORPHA:140
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Hepatoerythropoietic Porphyria
Osteoporosis, Osteopenia, Osteolysis ORPHA:95159
Kyphomelic Dysplasia
Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humer... OMIM:211350
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Rhizomelia, Metaphyseal cupping, Radial bowing, Short femoral neck, Broad hallux, Flared metaphys... OMIM:618019
Congenital Erythropoietic Porphyria
Osteoporosis, Osteopenia, Osteolysis, Reduced haptoglobin level ORPHA:79277
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Osteopenia, Patellar hypoplasia, Pathologic fracture, Metaph... ORPHA:221016
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Rhizomelia, Metaphyseal cupping, Flared metaphysis, Short finger, Joint stiffness, Femoral bowing... OMIM:608940
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Osteopetrosis, Increased bone mineral density OMIM:617306
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Femoral bowing, Humero... OMIM:207410
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia, Patellar hypoplasia, Metaphyseal sclerosis, Pate... ORPHA:221008
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis OMIM:612301
Osteopathia Striata-Cranial Sclerosis Syndrome
High iliac wing, Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, Increa... ORPHA:2780
Zygomycosis
Osteolysis ORPHA:73263
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Short thumb, R... ORPHA:2909
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th... ORPHA:221120
Osteopetrosis, Autosomal Recessive 3
Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis OMIM:259730
17Q11 Microdeletion Syndrome
Osteopenia, Thickened cortex of long bones, Diaphyseal dysplasia, Large hands, Osteoporosis, Oste... ORPHA:97685
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Multiple Endocrine Neoplasia Type 1
Increased susceptibility to fractures, Reduced bone mineral density, Osteolysis ORPHA:652
Hypermobile Ehlers-Danlos Syndrome
Limitation of joint mobility, Osteolysis, Joint hypermobility, Arachnodactyly, Osteoarthritis, Hi... ORPHA:285
Lenz-Majewski Hyperostotic Dwarfism
Aplastic clavicle, Limitation of joint mobility, Finger syndactyly, Cranial hyperostosis, Facial ... ORPHA:2658
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, El... OMIM:276820
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Atypical Werner Syndrome
Limitation of joint mobility, Finger clinodactyly, Sclerosis of hand bone, Osteolytic defects of ... ORPHA:79474
Hutchinson-Gilford Progeria Syndrome
Limitation of joint mobility, Limited wrist movement, Progressive clavicular acroosteolysis, Join... ORPHA:740
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, Joint hypermobility, Talipes equinovarus, Osteoarthritis, Osteolysis ORPHA:286

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 Spon1

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 Spon1.

No publications found that use IMPC mice or data for Spon1.

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
Spon1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Spon1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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