|
Symbol Name ID |
Gja1
gap junction protein, alpha 1 MGI:95713 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Sparse scalp hair |
Absent eyebrow |
Sparse eyebrow |
Sparse eyelashes |
Plantar hyperkeratosis |
Palmoplantar keratoderma |
Patchy palmoplantar hyperkeratosis |
Erythema |
Facial erythema |
Palmoplantar erythema |
Skin rash |
Abnormal hair morphology |
Absent hair |
Alopecia |
Generalized hirsutism |
Sparse hair |
Generalized hypotrichosis |
Trichorrhexis nodosa |
Slow-growing hair |
Brittle hair |
Curly hair |
Dry hair |
Fine hair |
Abnormality of the nail |
Abnormal fingernail morphology |
Leukonychia |
Fragile nails |
Nail dysplasia |
Ridged nail |
Nail dystrophy |
Abnormal blistering of the skin |
Epidermal acanthosis |
Scaling skin |
Hyperpigmentation of the skin |
Irregular hyperpigmentation |
Hypermelanotic macule |
Dry skin |
Cutaneous photosensitivity |
Poor wound healing |
Keratosis pilaris |
Macule |
Skin fissure |
Hypergranulosis |
Hyperkeratosis |
Epidermal hyperkeratosis |
Orthokeratosis |
Sclerodactyly |
Neoplasm of the skin |
| Disease(s) Associated with GJA1 | ||||||||||||||||||||||||||||||||||||||||||||||||
| erythrokeratodermia variabilis | ||||||||||||||||||||||||||||||||||||||||||||||||
| erythrokeratodermia variabilis et progressiva 3 | ||||||||||||||||||||||||||||||||||||||||||||||||
| oculodentodigital dysplasia | ||||||||||||||||||||||||||||||||||||||||||||||||
| palmoplantar keratoderma and congenital alopecia 1 |
| Mouse Phenotypes | integument phenotype |
abnormal mammary gland growth during pregnancy |
abnormal lactation |
impaired skin barrier function |
sparse hair |
abnormal epidermis stratum corneum morphology |
abnormal epidermis stratum granulosum morphology |
abnormal skin condition |
|
| Availability | Mouse Genotype | ||||||||
| Gja1tm4Kwi/Gja1tm4Kwi | |||||||||
| Gja1M1Jrt/Gja1+ | |||||||||
| Gja1tm1.1Kwi/Gja1tm4Kwi | * | ||||||||
| Gja1tm7(Gja2)Kwi/Gja1+ | |||||||||
| Gja1tm1Kwi/Gja1tm5(cre/ERT)Kwi (conditional) | |||||||||
| Gja1tm8Kwi/Gja1+ Tg(Pgk1-cre)1Lni/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 04/09/2024 MGI 6.23 |
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