|
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 |
Facial asymmetry |
Narrow face |
Square face |
Preauricular skin tag |
Facial palsy |
Dimple chin |
Cleft upper lip |
Cleft lip |
Abnormal soft palate morphology |
Cleft palate |
Narrow mouth |
Delayed eruption of teeth |
Choanal atresia |
Depressed nasal bridge |
Anosmia |
Highly arched eyebrow |
Downslanted palpebral fissures |
Eyelid coloboma |
Epicanthus |
| Disease(s) Associated with CHD7 | ||||||||||||||||||||||||
| CHARGE syndrome | ||||||||||||||||||||||||
| hypogonadotropic hypogonadism 5 with or without anosmia |
| Mouse Phenotypes | abnormal pharyngeal arch artery morphology |
abnormal fourth pharyngeal arch artery morphology |
abnormal sixth pharyngeal arch artery morphology |
abnormal olfactory epithelium cilium morphology |
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 |
abnormal nasal pit morphology |
absent nasal pit |
abnormal nasal placode morphology |
abnormal secondary palate development |
abnormal palatal shelf fusion at midline |
facial asymmetry |
decreased palatal rugae number |
cleft secondary palate |
abnormal internal nares morphology |
abnormal olfactory epithelium morphology |
abnormal olfactory sensory neuron morphology |
decreased olfactory sensory neuron number |
eyelid edema |
long snout |
short snout |
abnormal outer ear morphology |
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| Availability | Mouse Genotype | |||||||||||||||||||||||||||||||||||||||
| Chd7Gt(S20-7E1)Sor/Chd7Gt(S20-7E1)Sor | ||||||||||||||||||||||||||||||||||||||||
| Chd7Edy/Chd7+ | ||||||||||||||||||||||||||||||||||||||||
| Chd7Flo/Chd7+ | ||||||||||||||||||||||||||||||||||||||||
| Chd7Gt(RRR136)Byg/Chd7+ | ||||||||||||||||||||||||||||||||||||||||
| Chd7Gt(S20-7E1)Sor/Chd7+ | ||||||||||||||||||||||||||||||||||||||||
| Chd7Gt(XK403)Byg/Chd7+ | ||||||||||||||||||||||||||||||||||||||||
| Chd7Looper/Chd7+ | ||||||||||||||||||||||||||||||||||||||||
| Chd7Ome/Chd7+ | ||||||||||||||||||||||||||||||||||||||||
| Chd7Trooper/Chd7+ | ||||||||||||||||||||||||||||||||||||||||
| Chd7Whi/Chd7+ | ||||||||||||||||||||||||||||||||||||||||
| Chd7em1Kangn/Chd7em1Kangn Tg(Prrx1-cre)1Cjt/0 (conditional) |
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| Chd7Gt(S20-7E1)Sor/Chd7tm1.1Dmm Foxg1tm1(cre)Skm/Foxg1+ (conditional) |
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| Chd7Gt(XK403)Byg/Chd7+ H2az2Tg(Wnt1-cre)11Rth/H2az2+ (conditional) |
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| Chd7Gt(XK403)Byg/Chd7+ Tg(Tbx1-cre)1Joe/0 (conditional) |
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| Chd7Gt(XK403)Byg/Chd7+ Mesp1tm2(cre)Ysa/Mesp1+ (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 04/30/2024 MGI 6.23 |
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