ift172 Phenotypes

Summary

Expression

Phenotypes

XB-GENEPAGE-1221170

Gene Symbol: ift172 Gene Name: intraflagellar transport 172

Anatomical Phenotypes Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.
edematous embryo (3 sources), abnormal cartilage tissue morphology in the hindlimb (1 source), abnormal cilium morphology in the multiciliated epidermal cell (1 source), abnormal forelimb digit morphology (1 source), abnormal hindlimb digit morphology (1 source), abnormal kidney morphology (1 source), abnormal pronephric kidney (1 source), abnormally decreased number of cilium in the multiciliated cell (1 source), abnormally increased number of digit (1 source), decreased length of forelimb (1 source), decreased length of hindlimb (1 source), decreased length of hindlimb digit (1 source), decreased size of the cilium in the multiciliated cell (1 source), decreased size of the forelimb digit (1 source)

Anatomical Phenotypes

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

edematous embryo (3 sources), abnormal cartilage tissue morphology in the hindlimb (1 source), abnormal cilium morphology in the multiciliated epidermal cell (1 source), abnormal forelimb digit morphology (1 source), abnormal hindlimb digit morphology (1 source), abnormal kidney morphology (1 source), abnormal pronephric kidney (1 source), abnormally decreased number of cilium in the multiciliated cell (1 source), abnormally increased number of digit (1 source), decreased length of forelimb (1 source), decreased length of hindlimb (1 source), decreased length of hindlimb digit (1 source), decreased size of the cilium in the multiciliated cell (1 source), decreased size of the forelimb digit (1 source)

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.
ciliopathy (9AP sources), kidney disease (9AP sources), polydactyly (5AP sources)

Experiments (Reagents) These are short form descriptions of experiments using reagents targeting the gene of interest.
Xtr Wt + ift172 CRISPR (6 sources), Xla Wt + ift172 CRISPR (1 source), Xtr Wt + ift172 CRISPR (1 source), Xtr Wt + ift172 MO (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (99 sources): Abnormal clavicle morphology, Abnormal electroretinogram, Abnormal retinal vascular morphology, Abnormal rib morphology, Abnormal sternum morphology, Abnormal testis morphology, Abnormality of fundus pigmentation, Abnormality of pelvic girdle bone morphology, Abnormality of retinal pigmentation, Abnormality of the liver, Abnormality of the metaphysis, Anteverted nares, Aplasia/Hypoplasia of the lungs, Attenuation of retinal blood vessels, Atypical scarring of skin, Bell-shaped thorax, Blindness, Brachydactyly, Cataract, Cerebellar vermis hypoplasia, Cholestasis, Chronic kidney disease, Conductive hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Constriction of peripheral visual field, Cryptorchidism, Delayed speech and language development, Downslanted palpebral fissures, Drusen, Edema, Elevated circulating hepatic transaminase concentration, Feeding difficulties in infancy, Finger syndactyly, Generalized hirsutism, Genu valgum, Glaucoma, Glucose intolerance, Hearing impairment, Hepatic failure, Hepatic fibrosis, Hepatomegaly, Hydrocephalus, Hyperinsulinemia, Hyperreflexia, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Impaired glucose tolerance, Intellectual disability, Keratoconus, Lateral clavicle hook, Low-set, posteriorly rotated ears, Medial flaring of the eyebrow, Micromelia, Multicystic kidney dysplasia, Narrow chest, Nephronophthisis, Nephropathy, Nephrotic syndrome, Neurological speech impairment, Nyctalopia, Nystagmus, Obesity, Oculomotor apraxia, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Orofacial cleft, Pancreatitis, Photophobia, Pigmentary retinopathy, Postaxial foot polydactyly, Postaxial hand polydactyly, Progressive night blindness, Prominent nasal bridge, Renal insufficiency, Respiratory insufficiency, Retinal degeneration, Rod-cone dystrophy, Sensorineural hearing impairment, Short foot, Short long bone, Short neck, Short ribs, Short stature, Short thorax, Skeletal dysplasia, Skeletal muscle atrophy, Splenomegaly, Thoracic dysplasia, Thoracic hypoplasia, Toe syndactyly, Type II diabetes mellitus, Ventricular septal defect, Ventriculomegaly, Visual impairment, Wide nasal bridge [+]
Mouse (43 sources): abnormal allantois morphology, abnormal brain development, abnormal cardiac outflow tract development, abnormal cell morphology, abnormal craniofacial morphology, abnormal diencephalon morphology, abnormal direction of heart looping, abnormal electroretinogram waveform feature, abnormal embryo development, abnormal embryo turning, abnormal embryonic neuroepithelium morphology, abnormal floor plate morphology, abnormal kidney morphology, abnormal left-right axis patterning, abnormal limb morphology, abnormal mesendoderm development, abnormal motile primary cilium morphology, abnormal pericardium morphology, abnormal photoreceptor outer segment disc membrane morphology, abnormal photoreceptor outer segment morphology, abnormal renal glomerulus morphology, abnormal retina blood vessel morphology, abnormal rhombomere morphology, abnormal telencephalon morphology, absent embryonic cilia, atrioventricular septal defect, cardiovascular system phenotype, decreased b-wave amplitude, decreased heart right ventricle size, disorganized photoreceptor outer segment, embryonic lethality during organogenesis, complete penetrance, embryonic lethality prior to tooth bud stage, enlarged heart atrium, esophagus hypoplasia, increased heart ventricle size, open neural tube, perinatal lethality, complete penetrance, photoreceptor outer segment degeneration, prenatal lethality, complete penetrance, preweaning lethality, complete penetrance, retina outer nuclear layer degeneration, short photoreceptor outer segment, short radius [+]
View all ortholog results at Monarch