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Gene: Spon1 MGI:2385287

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

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 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
Thin bony cortex, Pathologic fracture, Osteolysis, Bowing of the long bones OMIM:174810
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Osteolysis ORPHA:2776
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Ab... ORPHA:970
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Juvenile Hyaline Fibromatosis
Joint stiffness, Abnormal diaphysis morphology, Progressive flexion contractures, Osteolysis ORPHA:2028
Eiken Syndrome
Metaphyseal irregularity, Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossi... ORPHA:79106
Osteosarcoma
Abnormal metaphysis morphology, Abnormal femoral metaphysis morphology, Pathologic fracture, Abno... ORPHA:668
Hyaline Fibromatosis Syndrome
Osteopenia, Osteoporosis, Flexion contracture, Progressive flexion contractures, Osteolysis OMIM:228600
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim... OMIM:600785
Gorham-Stout Disease
Osteopenia, Abnormal bone ossification, Abnormal femur morphology, Osteolysis involving bones of ... ORPHA:73
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Talo-Patello-Scaphoid Osteolysis
Short 4th metacarpal, Synovitis, Osteolysis of patellae, Osteolysis of talus, Osteolysis of scaph... ORPHA:50809
Rosaï-Dorfman Disease
Osteolysis ORPHA:158014
Ollier Disease
Joint stiffness, Abnormal metaphysis morphology, Osteolysis, Micromelia ORPHA:296
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Metacarpal osteolysis, Carpal osteolysis, Slender long bone, Limitation of joint mobility, Campto... ORPHA:2774
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis ORPHA:100024
Paget Disease Of Bone 2, Early-Onset
Osteosclerosis of the ulna, Fractures of the long bones, Femoral bowing, Bowing of the long bones... OMIM:602080
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Bone cyst, Abnormal bo... ORPHA:93160
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d... OMIM:166740
Keratoderma Hereditarium Mutilans
Autoamputation of digits, Osteolysis ORPHA:494
Dermatoosteolysis, Kirghizian Type
Abnormal metaphysis morphology, Tarsal synostosis, Abnormal diaphysis morphology, Osteoarthritis,... ORPHA:1657
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal metaphysis morphology, Elevated circulating C-reactive protein concentration, Hyperostos... ORPHA:324964
Ramon Syndrome
Osteolysis ORPHA:3019
Frank-Ter Haar Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Joint stiffness, Camptodactyly of... ORPHA:137834
Rhizomelic Chondrodysplasia Punctata, Type 3
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal long bone morphology, Calvarial hyperostosis, Elevated circulating creatine kinase conce... ORPHA:52430
Tenosynovial Giant Cell Tumor
Localized osteoporosis, Abnormal shoulder morphology, Limitation of joint mobility, Joint stiffne... ORPHA:66627
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper... ORPHA:75508
Infantile Myofibromatosis
Abnormal metaphysis morphology, Bone cyst, Limitation of joint mobility, Osteolysis ORPHA:2591
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involvin... ORPHA:371428
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic... ORPHA:3344
Desmoid Tumor
Limitation of joint mobility, Osteolysis ORPHA:873
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Osteolysis OMIM:176670
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Classic Hodgkin Lymphoma
Osteolysis ORPHA:391
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Femoral bowing, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Metaphyseal Chondrodysplasia, Schmid Type
Genu valgum, Metaphyseal sclerosis, Broad middle phalanx of finger, Femoral bowing, Irregular ace... OMIM:156500
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Fused cervical vertebrae, Elevated circulating C-reactive protein concen... OMIM:612852
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Abnormal pelvic girdle bone morphology, Thickened cortex... OMIM:607634
Fibrous Dysplasia Of Bone
Rickets, Abnormal femur morphology, Abnormal tibia morphology, Pathologic fracture, Abnormal bone... ORPHA:249
Maffucci Syndrome
Recurrent fractures, Osteolysis ORPHA:163634
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Sparse b... OMIM:600081
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin... OMIM:300554
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Calvarial hyperostosis, Lateral femoral bowing, Squared i... OMIM:112350
Pachydermoperiostosis
Abnormal cortical bone morphology, Arthritis, Limitation of joint mobility, Osteoporosis, Clubbin... ORPHA:2796
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Abnormal pel... OMIM:166600
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Narrow foramen obturatorium, Flexion contracture, Osteolysis ORPHA:220393
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Limitation of joint mobility, Acroosteoly... ORPHA:90153
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Progressive clavicular acroosteolysis, Osteolytic defects of the distal p... OMIM:614008
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor... OMIM:619598
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90154
Mucolipidosis Type Iii Alpha/Beta
Generalized osteoporosis, Joint stiffness, Flexion contracture, Osteolysis ORPHA:423461
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m... OMIM:602111
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Short 5th metacarpal, Thin bony co... OMIM:619638
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Ankylosis, Osteolysis ORPHA:659
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin... OMIM:241530
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Occipital Horn Syndrome
Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Joint hypermobility, Aplastic ... ORPHA:198
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Aggressive Systemic Mastocytosis
Pathologic fracture, Osteoporosis, Osteolysis ORPHA:98850
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Osteolysis ORPHA:100026
Gaucher Disease Type 1
Osteopenia, Osteoporosis, Elevated circulating CCL18 level, Erlenmeyer flask deformity of the fem... ORPHA:77259
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Felty Syndrome
Arthritis, Limitation of joint mobility, Osteolysis, Synovitis ORPHA:47612
Sapho Syndrome
Hyperostosis, Arthritis, Abnormal sacroiliac joint morphology, Synovitis, Enthesitis, Osteolysis,... ORPHA:793
Bruck Syndrome 2
Osteopenia, Elbow flexion contracture, Femoral bowing, Flexion contracture, Knee flexion contract... OMIM:609220
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Femoral bowing, Recurrent fractures, Osteoporosis OMIM:126550
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal femur morphology, Fractures of the long bones, Abnormal pel... ORPHA:464329
Craniometaphyseal Dysplasia
Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped metaphyses of hand bones, ... OMIM:307800
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Sparse b... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Sparse b... OMIM:277440
Dent Disease 1
Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Sparse b... OMIM:300009
Chromomycosis
Ankylosis, Osteolysis ORPHA:182
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Cam... ORPHA:88630
Florid Cemento-Osseous Dysplasia
Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi... ORPHA:83451
Papillon-Lefèvre Syndrome
Arachnodactyly, Osteolysis ORPHA:678
Erdheim-Chester Disease
Abnormal metaphysis morphology, Increased bone mineral density, Osteolysis, Abnormal epiphysis mo... 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, Arthritis, Osteolysis ORPHA:809
Alpha-Mannosidosis, Infantile Form
Osteopenia, Cranial hyperostosis, Genu valgum, Bilateral coxa valga, Cortical thickening of long ... ORPHA:309282
Osteogenesis Imperfecta, Type Xviii
Femoral bowing, Bowing of the long bones, Generalized osteoporosis, Joint hypermobility, Recurren... OMIM:617952
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Short foot, Short palm, Aplasia/Hypoplasia of th... ORPHA:3474
Hajdu-Cheney Syndrome
Osteopenia, Partial absence of toe, Decreased skull ossification, Osteoporosis, Bowing of the lon... ORPHA:955
H Syndrome
Hallux valgus, Camptodactyly, Recurrent fractures, Osteolysis ORPHA:168569
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Familial Dysautonomia
Recurrent fractures, Osteolysis ORPHA:1764
Incontinentia Pigmenti
Finger syndactyly, Abnormal hand morphology, Absent hand, Deviation of finger, Camptodactyly of f... ORPHA:464
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Genu valgum, Diaphyseal sclerosis, Recurrent fractures, Decr... OMIM:259710
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture OMIM:620366
Osteogenesis Imperfecta, Type Viii
Osteopenia, Slender long bone, Femoral retroversion, Femoral bowing, Tibial bowing, Decreased sku... OMIM:610915
Osteogenesis Imperfecta, Type Xiii
Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral metaphysis, Increa... OMIM:614856
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short clavicles, Osteolytic defects of the distal phalanges of the hand, Short phalanx of finger,... OMIM:608612
Porphyria, Congenital Erythropoietic
Osteopenia, Pathologic fracture, Osteolysis, Joint contracture of the hand OMIM:263700
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Femoral bowing, Sho... OMIM:616723
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Subperiosteal bone resorption, Delayed epiphyseal ossification, Femoral bowing, Tibial b... ORPHA:289157
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Short clavicles, Osteolytic defects of the distal phalanges of the hand, Elbow flexio... OMIM:248370
Gaucher Disease Type 3
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures ORPHA:77261
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bone cyst, Narrow iliac wing, Hip contracture, Flexion contracture, Osteolysis ORPHA:3042
Encephalocraniocutaneous Lipomatosis
Bone cyst, Craniofacial hyperostosis, Osteolysis ORPHA:2396
Gaucher Disease
Osteopenia, Elevated circulating C-reactive protein concentration, Increased bone mineral density... ORPHA:355
Anauxetic Dysplasia 3
Hip subluxation, Genu valgum, Broad middle phalanx of finger, Metaphyseal cupping, Squared iliac ... OMIM:618853
Chikungunya
Periostitis, Arthritis, Synovitis, Joint stiffness, Enthesitis, Stiff interphalangeal joints, Ost... ORPHA:324625
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Metaphyseal widening, Brachyda... ORPHA:440354
Osteogenesis Imperfecta, Type I
Osteopenia, Femoral bowing, Hip dysplasia, Joint hypermobility, Finger joint hypermobility, Recur... OMIM:166200
Coccidioidomycosis
Abnormal long bone morphology, Abnormal metacarpal morphology, Arthritis, Broad metatarsal, Osteo... ORPHA:228123
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Cryptococcosis
Osteomyelitis, Osteolysis ORPHA:1546
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Flared metaphysis, Increased bone minera... OMIM:259700
Dent Disease
Rickets, Delayed epiphyseal ossification, Elevated circulating creatine kinase concentration, Enl... ORPHA:1652
Osteogenesis Imperfecta, Type Iv
Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Bowing of... OMIM:166220
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Short tibia, Femoral bowing, Hyp... OMIM:620076
Mosaic Variegated Aneuploidy Syndrome
Clinodactyly of the 5th finger, Osteolysis ORPHA:1052
Campomelic Dysplasia
Fibular hypoplasia, Poorly ossified cervical vertebrae, Tracheomalacia, Tracheobronchomalacia, Fe... ORPHA:140
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Hepatoerythropoietic Porphyria
Osteopenia, Osteoporosis, Osteolysis ORPHA:95159
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Flat acet... OMIM:211350
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Limited elbow extension, Metaphyseal irregularity, Short 4th metacarpal, Genu valgum, Rhizomelia,... OMIM:618019
Achondroplasia
Limited elbow extension, Narrow greater sciatic notch, Rhizomelia, Ulnar bowing, Flared metaphysi... OMIM:100800
Congenital Erythropoietic Porphyria
Osteopenia, Reduced haptoglobin level, Osteoporosis, Osteolysis ORPHA:79277
Rothmund-Thomson Syndrome Type 2
Osteopenia, Finger symphalangism, Abnormal ulnar metaphysis morphology, Aplasia/hypoplasia involv... ORPHA:221016
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, F... OMIM:608940
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Clinodactyly of the 5th finger OMIM:617306
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Femoral bowing, Camptodactyly, Cor... OMIM:207410
Rothmund-Thomson Syndrome Type 1
Osteopenia, Finger symphalangism, Abnormal ulnar metaphysis morphology, Patellar hypoplasia, Meta... ORPHA:221008
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Femoral bowing, Tibial bowing, Camptodactyly... OMIM:231070
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, Osteopetrosis, Increased bone mineral density, Large iliac wing, ... ORPHA:2780
Zygomycosis
Osteolysis ORPHA:73263
Rothmund-Thomson Syndrome
Osteopenia, Hypoplasia of the ulna, Reduced bone mineral density, Metaphyseal striations, Aplasia... ORPHA:2909
Pseudoaminopterin Syndrome
Limited elbow movement, Clinodactyly of the 5th toe, Short 4th metacarpal, Hip subluxation, Clubb... ORPHA:221120
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
17Q11 Microdeletion Syndrome
Osteopenia, Diaphyseal dysplasia, Osteoporosis, Large hands, Thickened cortex of long bones, Bowi... ORPHA:97685
Van Den Ende-Gupta Syndrome
Dislocated radial head, Femoral bowing, Arachnodactyly, Slender metacarpals, Craniosynostosis, 2-... OMIM:600920
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing... OMIM:613091
Hyperparathyroidism, Transient Neonatal
Osteopenia, Subperiosteal bone formation, Fractured rib, Femoral bowing, Short long bone, Metaphy... OMIM:618188
Multiple Endocrine Neoplasia Type 1
Reduced bone mineral density, Osteolysis, Increased susceptibility to fractures ORPHA:652
Hypermobile Ehlers-Danlos Syndrome
Limitation of joint mobility, Arachnodactyly, Osteoarthritis, Joint hypermobility, Osteolysis, Hi... ORPHA:285
Lenz-Majewski Hyperostotic Dwarfism
Abnormal metaphysis morphology, Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morph... ORPHA:2658
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Femoral bowing, Fibular bowing, Metaphyseal chondrodysplasia ORPHA:85165
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Postaxial hand ... OMIM:304120
Atypical Werner Syndrome
Rocker bottom foot, Reduced bone mineral density, Osteolytic defects of the phalanges of the hand... ORPHA:79474
Hutchinson-Gilford Progeria Syndrome
Reduced bone mineral density, Short clavicles, Osteolytic defects of the distal phalanges of the ... ORPHA:740
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hypermobility, Talipes equinovarus 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.

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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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