pax8 Phenotypes

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Phenotypes

Gene Literature (104)

Nucleotides (139)

Interactants (876)

XB-GENEPAGE-483692

Gene Symbol: pax8 Gene Name: paired box 8

Anatomical Phenotypes Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.
abnormal pronephric kidney morphology (3 sources), abnormal development of pronephric kidney (2 sources), abnormal proximal tubule morphology (1 source), absent pronephric tubule (1 source), absent proximal tubule (1 source), edematous 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: pax8 manipulated (11 sources), pax8 assayed (8 sources)
Computed annotations: pax8 assayed (11 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.
kidney disease (2AP sources, 1 EP source)

Experiments (Reagents) These are short form descriptions of experiments using reagents targeting the gene of interest.
Xla Wt + pax8 MO (10 sources), Xla Wt + pax8 + CHX + DEX + animal cap amputation (1 source), Xla Wt + Tg(Xtr.pax8:GFP)del_CNS1/2 (1 source), Xtr Wt + pax8 CRISPR (1 source), Xtr Wt + pax8 MO (1 source), Xtr Wt + pax8 MO (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (36 sources): Abdominal distention, Abnormality of the face, Abnormality of the thyroid gland, Bradycardia, Coarse facial features, Congenital hypothyroidism, Constipation, Delayed skeletal maturation, Dry skin, Ectopic thyroid, Elevated circulating thyroid-stimulating hormone concentration, Fatigue, Feeding difficulties, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Goiter, Growth delay, Hoarse cry, Hyperbilirubinemia, Hypersomnia, Hypothermia, Hypothyroidism, Hypotonia, Intellectual disability, severe, Jaundice, Large fontanelles, Large posterior fontanelle, Lethargy, Macroglossia, Muscle weakness, Short stature, Stridor, Thyroid agenesis, Thyroid hypoplasia, Umbilical hernia [+]
Mouse (68 sources): abnormal action potential, abnormal adenohypophysis morphology, abnormal auditory bulla morphology, abnormal bone remodeling, abnormal caput epididymis morphology, abnormal cochlear hair cell morphology, abnormal cochlear hair cell stereociliary bundle morphology, abnormal cochlear IHC efferent innervation pattern, abnormal cochlear inner hair cell physiology, abnormal corpus epididymis morphology, abnormal epididymis epithelium morphology, abnormal epiphyseal plate morphology, abnormal external auditory canal morphology, abnormal inner hair cell synaptic ribbon morphology, abnormal kinocilium morphology, abnormal middle ear ossicle morphology, abnormal Mullerian duct morphology, abnormal organ of Corti morphology, abnormal outer ear morphology, abnormal outer hair cell stereociliary bundle morphology, abnormal pillar cell morphology, abnormal stapedial artery morphology, abnormal stapes crus morpholgy, abnormal thyroid diverticulum morphology, abnormal thyroid follicle morphology, abnormal thyroid follicular cell morphology, abnormal thyroid gland development, abnormal uterus development, absent efferent ductules of testis, absent endometrium, absent epididymis, absent round window, absent stapedial artery, absent thyroid follicular cells, absent uterine horn, arrest of spermatogenesis, cochlear outer hair cell degeneration, deafness, decreased body size, decreased bone mineral density of femur, decreased bone mineralization, decreased bone volume, decreased circulating thyroxine level, decreased femur compact bone thickness, decreased lactotroph cell number, decreased somatotroph cell number, decreased testis weight, delayed bone ossification, delayed ear emergence, delayed endochondral bone ossification, delayed eyelid opening, delayed inner ear development, dilated oviduct, dilated uterine cervix, enlarged tectorial membrane, increased apoptosis, increased circulating thyroid-stimulating hormone level, increased or absent threshold for auditory brainstem response, increased thyroid-stimulating hormone level, increased thyrotroph cell number, lethality at weaning, complete penetrance, no abnormal phenotype detected, postnatal lethality, complete penetrance, premature death, small epididymis, small round window, small thyroid gland, thin myometrium [+]
View all ortholog results at Monarch