|
Symbol Name ID |
Dph1
diphthamide biosynthesis 1 MGI:2151233 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Sparse scalp hair |
Sagittal craniosynostosis |
Scaphocephaly |
Trigonocephaly |
Micrognathia |
Dandy-Walker malformation |
Prominent forehead |
Natal tooth |
Depressed nasal bridge |
Sparse eyebrow |
Sparse eyelashes |
Downslanted palpebral fissures |
Epicanthus |
| Disease(s) Associated with DPH1 | |||||||||||||
| diphthamide deficiency syndrome 1 |
| Mouse Phenotypes | craniofacial phenotype |
abnormal craniofacial bone morphology |
short Meckel's cartilage |
decreased cranium length |
small cranium |
mandible hypoplasia |
short mandible |
micrognathia |
short nasal bone |
absent palatine bone |
palatal shelves fail to meet at midline |
decreased palatal shelf size |
round face |
cleft secondary palate |
cleft palate |
abnormal tongue position |
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| Availability | Mouse Genotype | ||||||||||||||||
| Dph1tm1Bhr/Dph1tm1Bhr | |||||||||||||||||
| Dph1tm2Bhr/Dph1tm2Bhr | |||||||||||||||||
| Dph1tm1.1Cmch/Dph1tm1.1Cmch Edil3Tg(Sox2-cre)1Amc/Edil3+ (conditional) |
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| Dph1tm1.1Cmch/Dph1tm1.1Cmch Mesp1tm2(cre)Ysa/Mesp1+ (conditional) |
* | ||||||||||||||||
| Dph1tm1.1Cmch/Dph1tm1.1Cmch H2az2Tg(Wnt1-cre)11Rth/H2az2+ (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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