|
Symbol Name ID |
Chsy1
chondroitin sulfate synthase 1 MGI:2681120 |
| Darker colors indicate more annotations |
| Human Phenotypes | Plagiocephaly |
Micrognathia |
Hypoplasia of the maxilla |
Abnormal digit morphology |
Clinodactyly of the 2nd finger |
Complete duplication of the middle phalanx of the 3rd finger |
Partial duplication of the proximal phalanx of the 3rd finger |
Clinodactyly of the 5th finger |
Complete duplication of proximal phalanx of the thumb |
Duplication of thumb phalanx |
Partial duplication of thumb phalanx |
Proximal symphalangism of hands |
Hitchhiker thumb |
Radial deviation of finger |
Tibial deviation of the 5th toe |
Short hallux |
Tibial deviation of the 2nd toe |
Clinodactyly |
Brachydactyly |
Syndactyly |
Cutaneous finger syndactyly |
Short metatarsal |
Tarsal synostosis |
Short foot |
Radioulnar synostosis |
Proximal radio-ulnar synostosis |
Short metacarpal |
Short palm |
Carpal synostosis |
Synostosis of carpals/tarsals |
| Disease(s) Associated with CHSY1 | ||||||||||||||||||||||||||||||
| temtamy preaxial brachydactyly syndrome |
| Mouse Phenotypes | abnormal craniofacial bone morphology |
arthritis |
abnormal carpal bone morphology |
abnormal phalanx morphology |
short femur |
short tibia |
abnormal limb bone morphology |
abnormal metacarpal bone morphology |
abnormal metatarsal bone morphology |
abnormal long bone hypertrophic chondrocyte zone |
abnormal axial skeleton morphology |
abnormal rib morphology |
short ribs |
thin ribs |
decreased bone mineral density of vertebrae |
abnormal bone structure |
decreased bone mineral content |
decreased bone mineral density of femur |
decreased volumetric bone mineral density |
decreased bone mineral density |
decreased trabecular bone volume |
decreased bone trabecula number |
decreased trabecular bone connectivity density |
decreased trabecular bone thickness |
delayed chondrocyte differentiation |
chondrodystrophy |
delayed bone mineralization |
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| Availability | Mouse Genotype | |||||||||||||||||||||||||||
| Chsy1em1(IMPC)Mbp/Chsy1em1(IMPC)Mbp | ||||||||||||||||||||||||||||
| Chsy1em1Btlr/Chsy1em1Btlr | ||||||||||||||||||||||||||||
| Chsy1m1Btlr/Chsy1m1Btlr | ||||||||||||||||||||||||||||
| Chsy1tm1Lex/Chsy1tm1Lex | ||||||||||||||||||||||||||||
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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