shh Phenotypes

Summary

Expression

Phenotypes

Gene Literature (455)

XB-GENEPAGE-488038

Gene Symbol: shh Gene Name: sonic hedgehog

Anatomical Phenotypes Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.
abnormal intestine morphology (3 sources), abnormal bending of tail (2 sources), abnormal regenerating forelimb morphology (2 sources), abnormally decreased number of melanophore (2 sources), abnormally localised eye (2 sources), decreased size of the intercanthal region (2 sources), edematous ventral trunk (2 sources), abnormal development of alimentary system (1 source), abnormal digit-joint region (1 source), abnormal digit-joint region morphology in the regenerating forelimb (1 source), abnormal forelimb digit (1 source), abnormal regenerating forelimb (1 source), abnormal spike (1 source), abnormally decreased number of digit-joint region in the regenerating forelimb (1 source), abnormally increased number of melanophore (1 source), abnormally wholly ventralized eye (1 source), increased branchiness of regenerating forelimb (1 source), increased size of the regenerating forelimb (1 source)

Anatomical Phenotypes

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

abnormal intestine morphology (3 sources), abnormal bending of tail (2 sources), abnormal regenerating forelimb morphology (2 sources), abnormally decreased number of melanophore (2 sources), abnormally localised eye (2 sources), decreased size of the intercanthal region (2 sources), edematous ventral trunk (2 sources), abnormal development of alimentary system (1 source), abnormal digit-joint region (1 source), abnormal digit-joint region morphology in the regenerating forelimb (1 source), abnormal forelimb digit (1 source), abnormal regenerating forelimb (1 source), abnormal spike (1 source), abnormally decreased number of digit-joint region in the regenerating forelimb (1 source), abnormally increased number of melanophore (1 source), abnormally wholly ventralized eye (1 source), increased branchiness of regenerating forelimb (1 source), increased size of the regenerating forelimb (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: shh manipulated (10 sources), shh assayed (15 sources)
Computed annotations: shh assayed (9 sources)

Experiments (Reagents) These are short form descriptions of experiments using reagents targeting the gene of interest.
Xla Wt + shh (7 sources), Xla Wt + shh MO (5 sources), Xla Wt + shh MO (3 sources), Xla Wt + shh MO (3 sources), Xla Wt + Hsa.FGF10 + Hsa.SHH + TMSB4X + forelimb amputation (2 sources), Xla Wt + Hsa.FGF10 + Hsa.SHH + forelimb amputation (1 source), Xla Wt + Hsa.SHH + animal cap explant (1 source), Xla Wt + Hsa.SHH + forelimb amputation (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (111 sources): 1-5 finger complete cutaneous syndactyly, 1-5 finger syndactyly, 2-3 toe syndactyly, 6 metacarpals, Abnormal cardiovascular system morphology, Abnormal nasopharynx morphology, Abnormal thumb morphology, Abnormality of chromosome segregation, Abnormality of fibula morphology, Abnormality of the nose, Abnormality of the scaphoid, Abnormality of the trapezium, Abnormality of vision, Agenesis of corpus callosum, Ambiguous genitalia, Anophthalmia, Anosmia, Anterior hypopituitarism, Anteverted nares, Aplasia of the 1st metacarpal, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Asthma, Bifid uvula, Bilateral microphthalmos, Bowing of the long bones, Camptodactyly of finger, Central diabetes insipidus, Cerebral cortical atrophy, Choanal atresia, Chorioretinal coloboma, Cleft lip, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Coloboma, Complete duplication of distal phalanx of the thumb, Cyclopia, Decreased response to growth hormone stimulation test, Depressed nasal bridge, Depressed nasal tip, Deviation of the hand or of fingers of the hand, Duodenal atresia, Duplication of phalanx of hallux, Duplication of thumb phalanx, EEG abnormality, EMG: myopathic abnormalities, Fibular duplication, Finger syndactyly, Foot polydactyly, Global developmental delay, Hand polydactyly, Hemangioma, Hemiparesis, Holoprosencephaly, Hydronephrosis, Hypoplasia of penis, Hypotelorism, Hypothyroidism, Increased fibular diameter, Intellectual disability, Intellectual disability, mild, Intrauterine growth retardation, Iris coloboma, Limitation of joint mobility, Malar flattening, Maternal diabetes, Microcephaly, Microphthalmia, Midface retrusion, Midnasal stenosis, Narrow nasal bridge, Opposable triphalangeal thumb, Orofacial cleft, Panhypopituitarism, Polydactyly, Porencephalic cyst, Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Preaxial foot polydactyly, Preaxial hand polydactyly, Premature birth, Proboscis, Prominent median palatal raphe, Proptosis, Pyriform aperture stenosis, Renal agenesis, Schizencephaly, Scoliosis, Seizure, Short columella, Short nose, Short philtrum, Short stature, Short tibia, Single naris, Solitary median maxillary central incisor, Spastic tetraplegia, Spasticity, Specific learning disability, Strabismus, Supernumerary metacarpal bones, Syndactyly, Tented upper lip vermilion, Tetralogy of Fallot, Toe syndactyly, Torus palatinus, Triphalangeal thumb, Ventriculomegaly [+]
Mouse (218 sources): abnormal adrenocortical cell morphology, abnormal ameloblast morphology, abnormal artery morphology, abnormal astrocyte morphology, abnormal atrium myocardium morphology, abnormal brain interneuron morphology, abnormal branching involved in lung morphogenesis, abnormal bronchus morphology, abnormal cardiac outflow tract development, abnormal cartilage development, abnormal cell proliferation, abnormal cerebellar Purkinje cell layer, abnormal cerebellar cortex morphology, abnormal cerebellar granule cell morphology, abnormal cerebellar granule layer morphology, abnormal cerebellar lobule formation, abnormal cerebellar molecular layer, abnormal cerebellum development, abnormal cerebellum external granule cell layer morphology, abnormal chondrocyte differentiation, abnormal choroid plexus morphology, abnormal circulating cholesterol level, abnormal colon morphology, abnormal craniofacial bone morphology, abnormal craniofacial morphology, abnormal cranium morphology, abnormal cystic duct morphology, abnormal dermal layer morphology, abnormal dermis papillary layer morphology, abnormal digestive organ placement, abnormal digestive system morphology, abnormal dorsal-ventral axis patterning, abnormal duodenum morphology, abnormal ear morphology, abnormal embryo development, abnormal embryo size, abnormal embryonic/fetal subventricular zone morphology, abnormal enteric neuron morphology, abnormal eye development, abnormal foregut morphology, abnormal forelimb zeugopod morphology, abnormal frontal bone morphology, abnormal gallbladder smooth muscle morphology, abnormal gastric surface mucous cell morphology, abnormal glial cell morphology, abnormal hair follicle development, abnormal hair follicle morphology, abnormal hair follicle orientation, abnormal hindlimb morphology, abnormal hindlimb zeugopod morphology, abnormal hippocampus development, abnormal humerus morphology, abnormal kidney inner medulla morphology, abnormal kidney morphology, abnormal kidney outer medulla inner stripe morphology, abnormal lateral ganglionic eminence morphology, abnormal limb development, abnormal limb morphology, abnormal liver development, abnormal lower incisor morphology, abnormal lung development, abnormal lung saccule morphology, abnormal lung vasculature morphology, abnormal maxilla morphology, abnormal maxillary shelf morphology, abnormal medial ganglionic eminence morphology, abnormal molar cusp morphology, abnormal motor capabilities/coordination/movement, abnormal nasal bone morphology, abnormal nasal pit morphology, abnormal neural crest cell apoptosis, abnormal neural crest cell migration, abnormal neurocranium morphology, abnormal odontoblast morphology, abnormal optic cup morphology, abnormal optic stalk morphology, abnormal optic vesicle formation, abnormal otic vesicle development, abnormal palatal shelf fusion at midline, abnormal phalanx morphology, abnormal pharynx morphology, abnormal physiological neovascularization, abnormal postnatal subventricular zone morphology, abnormal prenatal growth/weight/body size, abnormal renal glomerulus morphology, abnormal respiratory conducting tube morphology, abnormal retina ganglion cell morphology, abnormal scala media morphology, abnormal smooth muscle morphology, abnormal somite shape, abnormal spinal cord interneuron morphology, abnormal spinal cord lateral motor column morphology, abnormal stomach glandular epithelium morphology, abnormal stomach pH, abnormal submandibular gland morphology, abnormal superior semicircular canal morphology, abnormal synaptic dopamine release, abnormal tarsal bone morphology, abnormal telencephalon development, abnormal telencephalon morphology, abnormal tracheal cartilage morphology, abnormal tracheal smooth muscle morphology, abnormal ureter development, abnormal ureter smooth muscle morphology, abnormal vascular smooth muscle morphology, abnormal vasculogenesis, abnormal vestibulocochlear ganglion morphology, absent alveolar process, absent cartilage, absent cerebellar lobules, absent diencephalon, absent enamel cord, absent endolymphatic duct, absent external female genitalia, absent external male genitalia, absent floor plate, absent forelimb, absent hair follicle inner root sheath, absent hair follicles, absent hindlimb, absent lateral semicircular canal, absent mouth, absent notochord, absent olfactory bulb, absent pulmonary vein, absent scala media, absent tracheal cartilage rings, absent utricle, absent vestibular saccule, absent vestibulocochlear ganglion, absent vibrissae, acephaly, aerophagia, arrest of tooth development, behavior/neurological phenotype, bowed fibula, cardiovascular system phenotype, circling, decreased Purkinje cell number, decreased body size, decreased bone mineral content, decreased brain size, decreased brain weight, decreased chondrocyte proliferation, decreased dopamine level, decreased embryo size, decreased fetal size, decreased keratinocyte proliferation, decreased lean body mass, decreased locomotor activity, decreased midbrain size, decreased motor neuron number, decreased neuron number, decreased renal glomerulus number, decreased somite size, decreased spinal cord size, decreased tracheal cartilage ring number, delayed wound healing, digestive/alimentary phenotype, disorganized thalamus, embryo phenotype, embryonic growth retardation, embryonic lethality during organogenesis, incomplete penetrance, enlarged adrenocortical cells, epidermal hyperplasia, eyelids open at birth, fetal growth retardation, fusion of atlas and odontoid process, gastric metaplasia, growth retardation of incisors, growth retardation of molars, head bobbing, hemimelia, hindlimb paralysis, homeostasis/metabolism phenotype, impaired branching involved in bronchus morphogenesis, impaired lung lobe morphogenesis, increased apoptosis, increased dopamine level, increased forebrain size, increased midbrain size, increased neuron number, increased total body fat amount, kidney cortex hypoplasia, kidney medulla hypoplasia, lethality throughout fetal growth and development, incomplete penetrance, limb grasping, limbs/digits/tail phenotype, loss of dopaminergic neurons, neonatal lethality, complete penetrance, nervous system phenotype, no abnormal phenotype detected, notochord degeneration, occipital bone foramen, palatal shelf hypoplasia, palatal shelves fail to meet at midline, perinatal lethality, complete penetrance, perinatal lethality, incomplete penetrance, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, short ureter, skeleton phenotype, slow postnatal weight gain, small adrenal glands, small cerebellum, small gallbladder, small incisors, small kidney, small molars, small olfactory bulb, small stomach, stomach epithelial hyperplasia, thin adrenal cortex, thin external granule cell layer, thin interparietal bone [+]
View all ortholog results at Monarch