|
Symbol Name ID |
Flnb
filamin, beta MGI:2446089 |
| Darker colors indicate more annotations |
| Human Phenotypes | Frontal bossing |
Prominent occiput |
Platybasia |
Micrognathia |
Hypoplasia of the maxilla |
Malar flattening |
Small foramen magnum |
Shallow orbits |
Enlarged cisterna magna |
Encephalocele |
Enamel hypoplasia |
Short neck |
Radial bowing |
Bowed humerus |
Tibial bowing |
Clinodactyly of the 5th finger |
Short middle phalanx of finger |
Tombstone-shaped proximal phalanges |
Spatulate thumbs |
Hitchhiker thumb |
Short finger |
Preaxial foot polydactyly |
Mirror image foot polydactyly |
Sandal gap |
Widened distal phalanges |
Clubbing |
Brachydactyly |
Coxa vara |
Short femur |
Club-shaped proximal femur |
Distal tapering femur |
Dumbbell-shaped femur |
Fibular aplasia |
Short metatarsal |
Absent tibia |
Bipartite calcaneus |
Tarsal synostosis |
Patellar hypoplasia |
Absent radius |
Aplasia/Hypoplasia of the ulna |
Bifid humerus |
Tapered humerus |
Short metacarpal |
Short humerus |
Flat acetabular roof |
Hip dislocation |
Knee dislocation |
Scapular winging |
Multiple carpal ossification centers |
Capitate-hamate fusion |
Accessory carpal bones |
Carpal synostosis |
Elbow dislocation |
Limited elbow extension |
Dislocated wrist |
Limb undergrowth |
Micromelia |
Rhizomelia |
Popliteal pterygium |
Joint hypermobility |
Vertebral fusion |
Block vertebrae |
Fused cervical vertebrae |
Delayed skeletal maturation |
Epiphyseal dysplasia |
Multinucleated giant chondrocytes in epiphyseal cartilage |
Abnormal pelvic girdle bone morphology |
Short greater sciatic notch |
Hypoplastic iliac body |
Long clavicles |
11 pairs of ribs |
Bell-shaped thorax |
Pectus carinatum |
Pectus excavatum |
Thoracic hypoplasia |
Narrow chest |
Cervical kyphosis |
Hyperlordosis |
Lumbar hyperlordosis |
Scoliosis |
Increased intervertebral space |
Hypoplasia of the odontoid process |
Horizontal sacrum |
Hypoplastic cervical vertebrae |
Beaking of vertebral bodies |
Platyspondyly |
Thoracic platyspondyly |
Coronal cleft vertebrae |
Vertebral hypoplasia |
Vertebral segmentation defect |
Cervical segmentation defect |
C2-C3 subluxation |
Spondylolysis |
Disproportionate short-trunk short stature |
Lacunar halos around chondrocytes |
| Disease(s) Associated with FLNB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| atelosteogenesis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Boomerang dysplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| clubfoot | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Larsen syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| spondylocarpotarsal synostosis syndrome |
| Mouse Phenotypes | abnormal neurocranium morphology |
abnormal occipital bone morphology |
abnormal parietal bone morphology |
abnormal viscerocranium morphology |
fused carpal bones |
brachyphalangia |
abnormal radius morphology |
decreased diameter of radius |
short radius |
abnormal ulna morphology |
decreased diameter of ulna |
short tibia |
abnormal patella morphology |
abnormal limb bone morphology |
abnormal long bone epiphyseal plate morphology |
abnormal long bone epiphyseal plate proliferative zone |
decreased width of hypertrophic chondrocyte zone |
increased width of hypertrophic chondrocyte zone |
decreased long bone epiphyseal plate size |
decreased length of long bones |
abnormal sternum morphology |
abnormal sternebra morphology |
abnormal thoracic cage morphology |
decreased rib number |
rib fusion |
thin ribs |
thoracic vertebral fusion |
small thoracic cage |
abnormal vertebral column morphology |
absent intervertebral disk |
kyphosis |
kyphoscoliosis |
lordosis |
scoliosis |
cervical vertebral fusion |
decreased bone mineral density of vertebrae |
vertebral fusion |
decreased bone mineral content |
decreased bone mineral density |
decreased compact bone thickness |
abnormal chondrocyte morphology |
abnormal hyaline cartilage morphology |
abnormal perichondrium morphology |
abnormal skeleton development |
abnormal bone ossification |
abnormal bone mineralization |
decreased bone mineralization |
delayed endochondral bone ossification |
delayed intramembranous bone ossification |
decreased bone ossification |
delayed bone ossification |
abnormal chondrocyte physiology |
joint laxity |
|
| Availability | Mouse Genotype | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| FlnbGt(BGB085)Byg/FlnbGt(BGB085)Byg | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| FlnbGt(RRF239)Byg/FlnbGt(RRF239)Byg | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| FlnbGt(XD076)Byg/FlnbGt(XD076)Byg | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Flnbskm2/Flnbskm2 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Flnbtm1Vshn/Flnbtm1Vshn | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Flnbtm1b(KOMP)Wtsi/Flnb+ | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/16/2024 MGI 6.23 |
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