dsp Phenotypes

Summary

Expression

Phenotypes

XB-GENEPAGE-492194

Gene Symbol: dsp Gene Name: desmoplakin

Anatomical Phenotypes Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.
abnormal epidermis morphology (19 sources), decreased size of the embryo (9 sources), abnormal eye morphology (5 sources), abnormal craniofacial region morphology (4 sources), abnormal tail morphology (4 sources), obsolete abnormally edematous heart (4 sources), abnormal development of multiciliated cell (3 sources), abnormally decreased number of multiciliated epidermal cell (3 sources), increased pigmentation in the epidermis (3 sources), abnormal incomplete closing of the neural fold (2 sources), abnormally localised multiciliated cell (2 sources), decreased size of the multiciliated cell (2 sources), abnormal development of eye (1 source), abnormal development of fin (1 source), abnormal development of mouth (1 source), abnormal development of small secretory cell (1 source), abnormal epidermis inner layer morphology (1 source), abnormal epidermis outer layer morphology (1 source), abnormal fin morphology (1 source), abnormal mouth morphology (1 source), abnormally decreased number of small secretory cell (1 source), abnormally localised microtubule (1 source), decreased size of the apical region (1 source)

Anatomical Phenotypes

Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.

abnormal epidermis morphology (19 sources), decreased size of the embryo (9 sources), abnormal eye morphology (5 sources), abnormal craniofacial region morphology (4 sources), abnormal tail morphology (4 sources), obsolete abnormally edematous heart (4 sources), abnormal development of multiciliated cell (3 sources), abnormally decreased number of multiciliated epidermal cell (3 sources), increased pigmentation in the epidermis (3 sources), abnormal incomplete closing of the neural fold (2 sources), abnormally localised multiciliated cell (2 sources), decreased size of the multiciliated cell (2 sources), abnormal development of eye (1 source), abnormal development of fin (1 source), abnormal development of mouth (1 source), abnormal development of small secretory cell (1 source), abnormal epidermis inner layer morphology (1 source), abnormal epidermis outer layer morphology (1 source), abnormal fin morphology (1 source), abnormal mouth morphology (1 source), abnormally decreased number of small secretory cell (1 source), abnormally localised microtubule (1 source), decreased size of the apical region (1 source)

Expression Phenotypes Gene expression phenotype annotations where the gene of interest has been disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1, FDR <= 0.05 and an absolute LogFC >= 2.
Manual annotations: dsp manipulated (7 sources)
Computed annotations: dsp assayed (5 sources)

Diseases Diseases from the human disease ontology (DO) manually associated with phenotypes from disease models. Sources are grouped by anatomical (AP) and expression (EP) phenotypes.
skin disease (24AP sources, 7 EP sources)

Experiments (Reagents) These are short form descriptions of experiments using reagents targeting the gene of interest.
Xla Wt + dsp MO (12 sources), Xla Wt + dsp MO (4 sources), Xla Wt + dsp CRISPR1 (3 sources), Xla Wt + dsp CRISPR2 (3 sources), Xla Wt + dsp MO (3 sources), Xla Wt + Hsa.DSPdel (3 sources), Xla Wt + dsp MO (2 sources), Xla Wt + dsp MO + Impact Assay (1 source), Xla Wt + dsp MO + Rotation Assay (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (63 sources): Abnormal hair morphology, Abnormality of the cardiovascular system, Abnormality of the nail, Acantholysis, Alopecia universalis, Anonychia, Aplasia cutis congenita, Cardiomegaly, Cardiomyocyte hypertrophy, Cardiomyopathy, Congenital bullous ichthyosiform erythroderma, Congestive heart failure, Dilated cardiomyopathy, Edema, Epidermal acanthosis, Erythema, Erythroderma, Esophageal ulceration, Failure to thrive, Finger clinodactyly, Fragile nails, Fragile skin, Gingival recession, Growth delay, Hypergranulosis, Hyperkeratosis, Hypernatremia, Ichthyosis, Leukonychia, Mitten deformity, Nail dysplasia, Nail dystrophy, Natal tooth, Oral mucosal blisters, Orthokeratosis, Palmoplantar keratoderma, Palmoplantar keratosis with erythema and scale, Parakeratosis, Patchy palmoplantar hyperkeratosis, Phimosis, Premature ventricular contraction, Pruritus, Psoriasiform dermatitis, Pulmonic stenosis, Recurrent respiratory infections, Recurrent skin infections, Right ventricular cardiomyopathy, Sandal gap, Skin erosion, Sparse and thin eyebrow, Sparse eyelashes, Sudden cardiac death, Syncope, Syndactyly, Tachycardia, Tapered distal phalanges of finger, Tooth agenesis, Ventricular fibrillation, Ventricular septal defect, Ventricular tachycardia, Widely spaced toes, Woolly hair, obsolete Hypotrichosis [+]
Mouse (47 sources): abnormal R wave, abnormal T wave, abnormal Z line morphology, abnormal cell adhesion, abnormal corneocyte envelope morphology, abnormal ectoderm development, abnormal egg cylinder morphology, abnormal embryo turning, abnormal embryonic tissue morphology, abnormal endoderm development, abnormal epidermis stratum basale morphology, abnormal epidermis stratum spinosum morphology, abnormal hair medulla, abnormal hair medullary septa cells, abnormal heart apex morphology, abnormal heart echocardiography feature, abnormal hindbrain development, abnormal impulse conducting system conduction, abnormal intercalated disk morphology, abnormal myocardial fiber morphology, abnormal myocardium layer morphology, abnormal optic vesicle formation, abnormal peripheral nervous system regeneration, abnormal sciatic nerve morphology, abnormal subendocardium layer morphology, abnormal vibrissa follicle morphology, acanthosis, cardiac fibrosis, decreased embryo size, decreased ventricle muscle contractility, delayed axon extension, dermal-epidermal separation, dilated heart ventricle, disheveled coat, embryonic lethality between implantation and somite formation, complete penetrance, enlarged heart atrium, enlarged lymph nodes, impaired ability to fire action potentials, increased apoptosis, increased sensitivity to induced morbidity/mortality, oral mucosa blisters, premature death, preweaning lethality, complete penetrance, prolonged QRS complex duration, prolonged RR interval, ruffled hair, ventricular cardiomyopathy [+]
View all ortholog results at Monarch