|
Symbol Name ID |
Chd7
chromodomain helicase DNA binding protein 7 MGI:2444748 |
| Darker colors indicate more annotations |
| Human Phenotypes | Micrognathia |
Hypoplasia of the zygomatic bone |
Malar flattening |
Dandy-Walker malformation |
Microcephaly |
Clinodactyly of the 5th finger |
Hand polydactyly |
Short thumb |
Hand monodactyly |
Polydactyly |
Brachydactyly |
Bifid femur |
Abnormal tibia morphology |
Absent tibia |
Absent radius |
Hypoplasia of the ulna |
Down-sloping shoulders |
Abnormal rib morphology |
Scoliosis |
Hemivertebrae |
Abnormality of bone mineral density |
Radial head subluxation |
| Disease(s) Associated with CHD7 | ||||||||||||||||||||||
| CHARGE syndrome |
| Mouse Phenotypes | increased bone marrow adipose tissue amount |
abnormal craniofacial bone morphology |
otosclerosis |
abnormal oval window morphology |
decreased oval window size |
abnormal round window morphology |
decreased round window size |
increased cranium height |
abnormal middle ear ossicle morphology |
abnormal incus morphology |
abnormal incus long process morphology |
abnormal incus short process morphology |
abnormal malleus morphology |
abnormal malleus manubrium morphology |
abnormal stapes morphology |
abnormal stapes crus morpholgy |
abnormal stapes footplate morphology |
abnormal stapes head morphology |
small stapes obturator foramen |
small stapes |
decreased femur compact bone thickness |
decreased long bone epiphyseal plate size |
abnormal glenoid fossa morphology |
decreased lumbar vertebrae number |
decreased bone mineral content |
decreased volumetric bone mineral density |
decreased bone mineral density |
abnormal compact bone morphology |
decreased osteoblast cell number |
increased periosteum thickness |
abnormal trabecular bone morphology |
decreased bone trabecula number |
increased bone trabecular spacing |
decreased trabecular bone thickness |
decreased bone mass |
abnormal incudomalleolar joint morphology |
decreased bone mineralization |
decreased bone ossification |
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| Availability | Mouse Genotype | ||||||||||||||||||||||||||||||||||||||
| Chd7Edy/Chd7+ | |||||||||||||||||||||||||||||||||||||||
| Chd7Flo/Chd7+ | |||||||||||||||||||||||||||||||||||||||
| Chd7Gt(S20-7E1)Sor/Chd7+ | |||||||||||||||||||||||||||||||||||||||
| Chd7Looper/Chd7+ | |||||||||||||||||||||||||||||||||||||||
| Chd7Ome/Chd7+ | |||||||||||||||||||||||||||||||||||||||
| Chd7tm2a(EUCOMM)Wtsi/Chd7+ | |||||||||||||||||||||||||||||||||||||||
| Chd7Trooper/Chd7+ | |||||||||||||||||||||||||||||||||||||||
| Chd7Whi/Chd7+ | |||||||||||||||||||||||||||||||||||||||
| Chd7em1Kangn/Chd7em1Kangn Tg(Prrx1-cre)1Cjt/0 (conditional) |
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| Chd7em1Kangn/Chd7em1Kangn Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0 (conditional) |
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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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