tyr Phenotypes

Summary

Expression

Phenotypes

XB-GENEPAGE-988577

Gene Symbol: tyr Gene Name: tyrosinase

Anatomical Phenotypes Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.
decreased pigmentation in the eye (6 sources), decreased pigmentation in the epidermis (3 sources), dead whole organism (2 sources), decreased pigmentation in the whole organism (2 sources), abnormally decreased number of melanophore in the epidermis (1 source), absent eye (1 source), absent pigment cell (1 source), decreased pigmentation in the head (1 source), decreased pigmentation in the retinal pigmented epithelium (1 source), decreased size of the eye (1 source), increased size of the ventral trunk (1 source)

Anatomical Phenotypes

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

decreased pigmentation in the eye (6 sources), decreased pigmentation in the epidermis (3 sources), dead whole organism (2 sources), decreased pigmentation in the whole organism (2 sources), abnormally decreased number of melanophore in the epidermis (1 source), absent eye (1 source), absent pigment cell (1 source), decreased pigmentation in the head (1 source), decreased pigmentation in the retinal pigmented epithelium (1 source), decreased size of the eye (1 source), increased size of the ventral trunk (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: tyr assayed (1 source)
Computed annotations: tyr 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.
ocular albinism (1AP source), oculocutaneous albinism type IA ()

Experiments (Reagents) These are short form descriptions of experiments using reagents targeting the gene of interest.
Xla wt + tyr gRNA 14/16 CRISPR (2 sources), Xtr + tyr sgRNA CRISPR (2 sources), Xtr Wt + tyr CRISPR (2 sources), Xtr Wt + tyr CRISPR (1 source), Xtr Wt + tyr CRISPR (1 source), Xtr Wt + tyr CRISPR (1 source), Xtr Wt + tyr CRISPR (1 source), Xtr Wt + tyr CRISPR (1 source), Xtr Wt + tyr CRISPR (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (40 sources): Abnormality of refraction, Abnormality of retinal pigmentation, Abnormality of the optic nerve, Abnormality of visual evoked potentials, Absent skin pigmentation, Albinism, Astigmatism, Basal cell carcinoma, Blue irides, Cutaneous photosensitivity, Exotropia, Freckling, Generalized hypopigmentation, Giant melanosomes in melanocytes, Hearing impairment, High hypermetropia, Hyperkeratosis, Hypermetropia, Hypopigmentation of hair, Hypopigmentation of the fundus, Hypopigmentation of the skin, Hypoplasia of the fovea, Iris hypopigmentation, Melanocytic nevus, Melanoma, Multiple lentigines, Myopia, Nystagmus, Ocular albinism, Optic nerve dysplasia, Photophobia, Reduced visual acuity, Sensorineural hearing impairment, Squamous cell carcinoma of the skin, Strabismus, Thickened skin, Vestibular hypofunction, Visual impairment, White eyelashes, White hair [+]
Mouse (48 sources): abnormal aqueous drainage system morphology, abnormal cell morphology, abnormal cell nucleus morphology, abnormal chromosome morphology, abnormal coat appearance, abnormal eye pigmentation, abnormal hair follicle melanogenesis, abnormal keratinocyte apoptosis, abnormal melanosome morphology, abnormal miscarriage rate, abnormal retina ganglion layer morphology, abnormal retina photoreceptor morphology, abnormal survival, absent coat pigmentation, absent eye pigmentation, absent hair follicle melanin granules, absent seminal vesicle, belly spot, decreased a-wave amplitude, decreased b-wave amplitude, decreased ear pigmentation, decreased eye pigmentation, decreased retina photoreceptor cell number, decreased survivor rate, diluted coat color, embryonic lethality at implantation, complete penetrance, embryonic lethality before implantation, complete penetrance, embryonic lethality, complete penetrance, failure of zygotic cell division, homeostasis/metabolism phenotype, increased cellular sensitivity to ionizing radiation, induced chromosome breakage, integument phenotype, irregular coat pigmentation, mottled coat, neonatal lethality, complete penetrance, no abnormal phenotype detected, perinatal lethality, complete penetrance, pigmentation phenotype, premature death, prenatal lethality, prenatal lethality, complete penetrance, reproductive system phenotype, shiny fur, transverse fur striping, variegated coat color, variegated eye pigmentation pattern, vision/eye phenotype [+]
View all ortholog results at Monarch