|
Symbol Name ID |
Xylt1
xylosyltransferase 1 MGI:2451073 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Microretrognathia |
Malar flattening |
Microcephaly |
Relative macrocephaly |
Short neck |
Genu varum |
Radial deviation of the 2nd finger |
Clinodactyly of the 5th finger |
Bifid distal phalanx of the thumb |
Camptodactyly of finger |
Short 1st metacarpal |
Short phalanx of finger |
Broad thumb |
Phalangeal dislocation |
Triangular shaped phalanges of the hand |
Partial duplication of the distal phalanx of the hallux |
Toe clinodactyly |
Sandal gap |
Brachydactyly |
Cutaneous syndactyly |
Abnormal femoral neck/head morphology |
Broad femoral neck |
Coxa valga |
Coxa vara |
Monkey wrench femoral neck |
Short femoral neck |
Proximal fibular overgrowth |
Broad first metatarsal |
Short metatarsal |
Advanced tarsal ossification |
Abnormal metaphysis morphology |
Metaphyseal widening |
Radioulnar synostosis |
Short metacarpal |
Small hand |
Flat acetabular roof |
Hip dislocation |
Patellar dislocation |
Genu recurvatum |
Knee dislocation |
Advanced ossification of carpal bones |
Elbow dislocation |
Medial calcification of large arteries |
Medial calcification of medium-sized arteries |
Joint hypermobility |
Accelerated skeletal maturation |
Epiphyseal dysplasia |
Flattened epiphysis |
Short long bone |
Abnormal thorax morphology |
Short clavicles |
Bell-shaped thorax |
Abnormal sternum morphology |
Pectus carinatum |
Pectus excavatum |
Narrow chest |
Hyperlordosis |
Lumbar hyperlordosis |
Kyphosis |
Scoliosis |
Platyspondyly |
Osteoporosis |
Osteoarthritis |
Joint dislocation |
Radial head subluxation |
Cerebral calcification |
Calcification of falx cerebri |
| Disease(s) Associated with XYLT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Desbuquois dysplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| pseudoxanthoma elasticum |
| Mouse Phenotypes | skeleton phenotype |
abnormal osteoclast differentiation |
short mandible |
short humerus |
short ulna |
short femur |
short tibia |
decreased width of hypertrophic chondrocyte zone |
short ribs |
small thoracic cage |
abnormal bone structure |
increased trabecular bone volume |
abnormal periosteum morphology |
decreased bone trabecula number |
increased trabecular bone connectivity density |
increased trabecular bone thickness |
decreased chondrocyte number |
abnormal endochondral bone ossification |
premature bone ossification |
|
| Availability | Mouse Genotype | |||||||||||||||||||
| Xylt1m1Btlr/Xylt1m1Btlr | ||||||||||||||||||||
| Xylt1m2Btlr/Xylt1m2Btlr | ||||||||||||||||||||
| Xylt1npo/Xylt1npo | * | |||||||||||||||||||
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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