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Symbol
Name
ID
Dkc1
dyskeratosis congenita 1, dyskerin
MGI:1861727
Phenotype annotations related to integument
*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
Aplastic/hypoplastic toenail
Ridged nail
Split nail
Nail dystrophy
Pterygium of nails
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

Contributing Projects:
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
03/19/2024
MGI 6.23
The Jackson Laboratory