six1 Phenotypes

Summary

Expression

Phenotypes

XB-GENEPAGE-480716

Gene Symbol: six1 Gene Name: SIX homeobox 1

Anatomical Phenotypes Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.
decreased size of the inner ear (6 sources), decreased size of the otic capsule (3 sources), decreased size of the posterior semicircular canal (2 sources), decreased size of the lateral semicircular canal (1 source), decreased size of the utricle (1 source), increased size of the otic vesicle (1 source), increased size of the posterior semicircular canal (1 source), increased size of the utricle (1 source)

Anatomical Phenotypes

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

decreased size of the inner ear (6 sources), decreased size of the otic capsule (3 sources), decreased size of the posterior semicircular canal (2 sources), decreased size of the lateral semicircular canal (1 source), decreased size of the utricle (1 source), increased size of the otic vesicle (1 source), increased size of the posterior semicircular canal (1 source), increased size of the utricle (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: six1 manipulated (136 sources), six1 assayed (32 sources)
Computed annotations: six1 assayed (29 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.
branchiootorenal syndrome (16AP sources, 68 EP sources), branchiootic syndrome (15AP sources, 58 EP sources)

Experiments (Reagents) These are short form descriptions of experiments using reagents targeting the gene of interest.
Xla Wt + six1 (14 sources), Xla Wt + Six1-Y129C (14 sources), Xla Wt + six1 (12 sources), Xla Wt + six1 MO (12 sources), Xla Wt + six1-V17E (12 sources), Xla Wt + six1-W122R (12 sources), Xla Wt + six1-R110W (9 sources), Xla Wt + six1 MO (7 sources), Xla Wt + mcrs1 + six1 (6 sources), Xla Wt + mcrs1 + six1 MO (6 sources), Xla Wt + mcrs1 MO + six1 MO (6 sources), Xla Wt + six1 (6 sources), Xla Wt + six1 (5 sources), Xla Wt + six1-150 (4 sources), Xla Wt + irx1 + Six1 MO (3 sources), Xla Wt + six1 MO (3 sources), Xla Wt + six1-400 (3 sources), Xla Wt + six1-VP16 (3 sources), Xla Wt + six1 + eya1 (2 sources), Xla Wt + six1-EnR (2 sources), Xla Wt + six1-GR + Dex (16) (2 sources), Xla Wt + mcrs1 + six1 MO (1 source), Xla Wt + six1 (1 source), Xla Wt + six1-EnR (1 source), Xla Wt + six1-GR + Dex (18) (1 source), Xla Wt + six1-R110W (1 source), Xla Wt + six1-VP16 (1 source), Xla Wt + six1-W122R (1 source), Xtr Wt + six1 CRISPR (1 source)

Experiments (Reagents)

These are short form descriptions of experiments using reagents targeting the gene of interest.

Xla Wt + six1 (14 sources), Xla Wt + Six1-Y129C (14 sources), Xla Wt + six1 (12 sources), Xla Wt + six1 MO (12 sources), Xla Wt + six1-V17E (12 sources), Xla Wt + six1-W122R (12 sources), Xla Wt + six1-R110W (9 sources), Xla Wt + six1 MO (7 sources), Xla Wt + mcrs1 + six1 (6 sources), Xla Wt + mcrs1 + six1 MO (6 sources), Xla Wt + mcrs1 MO + six1 MO (6 sources), Xla Wt + six1 (6 sources), Xla Wt + six1 (5 sources), Xla Wt + six1-150 (4 sources), Xla Wt + irx1 + Six1 MO (3 sources), Xla Wt + six1 MO (3 sources), Xla Wt + six1-400 (3 sources), Xla Wt + six1-VP16 (3 sources), Xla Wt + six1 + eya1 (2 sources), Xla Wt + six1-EnR (2 sources), Xla Wt + six1-GR + Dex (16) (2 sources), Xla Wt + mcrs1 + six1 MO (1 source), Xla Wt + six1 (1 source), Xla Wt + six1-EnR (1 source), Xla Wt + six1-GR + Dex (18) (1 source), Xla Wt + six1-R110W (1 source), Xla Wt + six1-VP16 (1 source), Xla Wt + six1-W122R (1 source), Xtr Wt + six1 CRISPR (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (32 sources): Abnormal lacrimal duct morphology, Abnormal nasolacrimal system morphology, Abnormality of the inner ear, Abnormality of the middle ear ossicles, Abnormality of the outer ear, Atresia of the external auditory canal, Branchial cyst, Branchial fistula, Cleft palate, Commissural lip pit, Conductive hearing impairment, Enlarged cochlear aqueduct, External ear malformation, Facial asymmetry, Facial palsy, Hearing impairment, Hydronephrosis, Hypoplasia of the cochlea, Lacrimal duct stenosis, Lip pit, Micrognathia, Morphological abnormality of the middle ear, Multicystic kidney dysplasia, Preauricular pit, Preauricular skin tag, Renal hypoplasia/aplasia, Renal insufficiency, Retrognathia, Sensorineural hearing impairment, Stenosis of the external auditory canal, Ureteropelvic junction obstruction, Vesicoureteral reflux [+]
Mouse (97 sources): abnormal Meckel's cartilage morphology, abnormal abdominal wall morphology, abnormal cardiac outflow tract development, abnormal cardiovascular development, abnormal cochlea morphology, abnormal cochlear hair cell morphology, abnormal common carotid artery morphology, abnormal common crus morphology, abnormal cranial neural crest cell morphology, abnormal craniofacial bone morphology, abnormal craniofacial morphology, abnormal crista ampullaris morphology, abnormal endolymphatic duct morphology, abnormal epaxial muscle morphology, abnormal external nares morphology, abnormal face development, abnormal frontal bone morphology, abnormal genioglossus muscle morphology, abnormal hyoid bone greater horn morphology, abnormal hypaxial muscle morphology, abnormal incus morphology, abnormal inner ear canal morphology, abnormal intercostal muscle morphology, abnormal kidney development, abnormal kidney morphology, abnormal lacrimal gland development, abnormal limb morphology, abnormal liver size, abnormal malleus morphology, abnormal midface morphology, abnormal muscle fiber morphology, abnormal muscle precursor cell migration, abnormal muscle regeneration, abnormal myogenesis, abnormal nasal bone morphology, abnormal nasal cavity morphology, abnormal olfactory epithelium morphology, abnormal olfactory system morphology, abnormal otic vesicle development, abnormal placenta morphology, abnormal placenta vasculature, abnormal skeletal muscle morphology, abnormal sternocostal joint morphology, abnormal sternum ossification, abnormal styloid process morphology, abnormal submandibular gland development, abnormal submandibular gland physiology, abnormal tail morphology, abnormal trigeminal ganglion morphology, abnormal tympanic membrane morphology, abnormal xiphoid process morphology, absent incus, absent lateral semicircular canal, absent metanephros, absent olfactory epithelium, absent parotid gland, absent pinna reflex, absent scala media, absent stapedial artery, absent turbinates, absent vestibulocochlear ganglion, absent vomeronasal organ, circling, conductive hearing loss, decreased body size, decreased cell proliferation, decreased circulating alkaline phosphatase level, decreased cochlear inner hair cell number, decreased otic epithelial cell proliferation, decreased skeletal muscle mass, decreased submandibular gland size, dilated endolymphatic duct, eyelids open at birth, head shaking, impaired righting response, increased apoptosis, increased cochlear inner hair cell number, increased neuron apoptosis, increased or absent threshold for auditory brainstem response, inner ear hypoplasia, limb grasping, muscle phenotype, perinatal lethality, complete penetrance, preweaning lethality, complete penetrance, short endolymphatic duct, short mandible, short maxilla, short temporal bone squamous part, short ureter, short zygomatic bone, skeletal muscle fibrosis, small adenohypophysis, small kidney, small otic capsule, small utricle, small vestibular saccule, thin diaphragm muscle [+]
View all ortholog results at Monarch