Symbol Name ID |
Dkc1
dyskeratosis congenita 1, dyskerin MGI:1861727 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Abnormal eyebrow morphology |
Abnormal eyelash morphology |
Sparse eyelashes |
Palmoplantar keratoderma |
Telangiectasia of the skin |
Alopecia |
Sparse hair |
White hair |
Premature graying of hair |
Abnormal fingernail morphology |
Nail pterygium |
Ridged nail |
Aplastic/hypoplastic toenail |
Split nail |
Nail dystrophy |
Hyperhidrosis |
Abnormal blistering of the skin |
Hyperpigmentation of the skin |
Hypermelanotic macule |
Hypopigmented skin patches |
Reticulated skin pigmentation |
Aplasia/Hypoplasia of the skin |
Dermal atrophy |
Macule |
Skin ulcer |
Skin vesicle |
Pterygium |
Squamous cell carcinoma |
Oropharyngeal squamous cell carcinoma |
Disease(s) Associated with DKC1 | |||||||||||||||||||||||||||||
dyskeratosis congenita | |||||||||||||||||||||||||||||
X-linked dyskeratosis congenita |
Mouse Phenotypes | integument phenotype |
increased mammary adenocarcinoma incidence |
abnormal skin morphology |
abnormal epidermis stratum granulosum morphology |
abnormal epidermis stratum spinosum morphology |
epidermal hyperplasia |
dyskeratosis |
|
Availability | Mouse Genotype | |||||||
Dkc1tm1Ppp/Dkc1+ | ||||||||
Dkc1tm1.1Pjma/Y | * | |||||||
Dkc1tm1Ppp/Y |
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 09/03/2024 MGI 6.24 |
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