|
Symbol Name ID |
Slc26a2
solute carrier family 26 (sulfate transporter), member 2 MGI:892977 |
| Darker colors indicate more annotations |
| Human Phenotypes | Frontal bossing |
Prominent occiput |
Micrognathia |
Hypoplasia of the maxilla |
Malar flattening |
Encephalocele |
Short neck |
Radial bowing |
Ulnar bowing |
Genu valgum |
Tibial bowing |
Contracture of the proximal interphalangeal joint of the 3rd finger |
Short middle phalanx of finger |
Tombstone-shaped proximal phalanges |
Hitchhiker thumb |
Short thumb |
Short finger |
Ulnar deviation of finger |
Short toe |
Sandal gap |
Widened distal phalanges |
Clubbing |
Brachydactyly |
Flat capital femoral epiphysis |
Abnormal ulnar epiphysis morphology |
Flattened radial epiphyses |
Delayed femoral head ossification |
Dislocation of the femoral head |
Hypoplasia of the femoral head |
Broad femoral neck |
Coxa vara |
Short femoral neck |
Short femur |
Club-shaped proximal femur |
Distal tapering femur |
Dumbbell-shaped femur |
Fibular aplasia |
Short metatarsal |
Metatarsal synostosis |
Metaphyseal widening |
Abnormal forearm bone morphology |
Aplasia/Hypoplasia of the ulna |
Bifid humerus |
Short metacarpal |
Short humerus |
Acromicria |
Upper limb undergrowth |
Acetabular dysplasia |
Flat acetabular roof |
Hip contracture |
Double-layered patella |
Patellar dislocation |
Knee dislocation |
Elbow dislocation |
Elbow flexion contracture |
Limited elbow flexion |
Limb undergrowth |
Micromelia |
Rhizomelia |
Flexion contracture |
Limitation of joint mobility |
Joint stiffness |
Stiff ankle |
Fused cervical vertebrae |
Accelerated skeletal maturation |
Epiphyseal dysplasia |
Flattened epiphysis |
Flattened femoral epiphysis |
Irregular epiphyses |
Multinucleated giant chondrocytes in epiphyseal cartilage |
Short long bone |
Abnormal pelvic girdle bone morphology |
Short greater sciatic notch |
Hypoplastic ilia |
Arthralgia of the hip |
Hip dysplasia |
Long clavicles |
Costal cartilage calcification |
11 pairs of ribs |
Short ribs |
Bell-shaped thorax |
Thoracic hypoplasia |
Narrow chest |
Cervical kyphosis |
Lumbar hyperlordosis |
Kyphoscoliosis |
Scoliosis |
Increased intervertebral space |
Horizontal sacrum |
Hypoplastic cervical vertebrae |
Platyspondyly |
Thoracic platyspondyly |
Coronal cleft vertebrae |
Absent or minimally ossified vertebral bodies |
Vertebral hypoplasia |
Cervical segmentation defect |
Lacunar halos around chondrocytes |
Premature osteoarthritis |
Skeletal dysplasia |
Multiple epiphyseal dysplasia |
| Disease(s) Associated with SLC26A2 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| achondrogenesis type IB | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| atelosteogenesis | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| diastrophic dysplasia | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| multiple epiphyseal dysplasia 4 |
| Mouse Phenotypes | mandibular hyperostosis |
bowed tibia |
abnormal long bone hypertrophic chondrocyte zone |
abnormal long bone epiphysis morphology |
decreased length of long bones |
kyphosis |
osteoporosis |
abnormal joint morphology |
delayed endochondral bone ossification |
|
| Availability | Mouse Genotype | |||||||||
| Slc26a2tm1Aros/Slc26a2tm1Aros | ||||||||||
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 04/23/2024 MGI 6.23 |
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