sf3b4 Phenotypes

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Phenotypes

Gene Literature (17)

Nucleotides (393)

Interactants (316)

XB-GENEPAGE-492932

Gene Symbol: sf3b4 Gene Name: splicing factor 3b subunit 4

Anatomical Phenotypes Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.
absent Meckel's cartilage (1 source), absent branchial arch skeleton (1 source), absent ceratohyal (1 source), decreased size of the Meckel's cartilage (1 source), decreased size of the branchial arch skeleton (1 source), decreased size of the ceratohyal (1 source), decreased size of the head (1 source), increased apoptosis in ectoderm (1 source), increased apoptosis in embryo (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: sf3b4 manipulated (9 sources)

Experiments (Reagents) These are short form descriptions of experiments using reagents targeting the gene of interest.
Xla Wt + sf3b4 MO (5 sources), Xla Wt + sf3b4 MO (3 sources), Xla Wt + sf3b4 MO (2 sources), Xla Wt + sf3b4 MO (1 source), Xla Wt + sf3b4 MO (1 source), Xla Wt + sf3b4 MO (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (99 sources): 11 pairs of ribs, Abnormal cardiovascular system morphology, Abnormal form of the vertebral bodies, Abnormal nasal morphology, Abnormal palate morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the cervical spine, Abnormality of the lower limb, Abnormality of the uterus, Absent forearm, Absent radius, Absent thumb, Aganglionic megacolon, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the ulna, Aqueductal stenosis, Arrhinencephaly, Atresia of the external auditory canal, Bicornuate uterus, Broad hallux, Cleft palate, Cleft upper lip, Clinodactyly, Conductive hearing impairment, Deep-set nails, Deeply set eye, Delayed speech and language development, Downslanted palpebral fissures, Fibular hypoplasia, Finger syndactyly, Foot oligodactyly, Gastroschisis, Hallux valgus, Hearing impairment, High palate, Hip dislocation, Hydrocephalus, Hypertelorism, Hypoplasia of first ribs, Hypoplasia of the epiglottis, Hypoplasia of the maxilla, Hypoplasia of the radius, Hypoplasia of the zygomatic bone, Intrauterine growth retardation, Joint stiffness, Laryngeal hypoplasia, Limited elbow extension, Low-set ears, Low-set, posteriorly rotated ears, Lower eyelid coloboma, Malar flattening, Microcephaly, Micrognathia, Microretrognathia, Microtia, Midface retrusion, Narrow mouth, Non-midline cleft of the upper lip, Oligodactyly, Overlapping toe, Patent ductus arteriosus, Phocomelia, Polymicrogyria, Posteriorly rotated ears, Preauricular skin tag, Premature birth, Prominent nasal bridge, Prominent nose, Ptosis, Radial deviation of finger, Radioulnar synostosis, Renal hypoplasia/aplasia, Respiratory insufficiency, Retrognathia, Scoliosis, Short philtrum, Short stature, Short tibia, Short toe, Single transverse palmar crease, Skeletal dysplasia, Sparse lower eyelashes, Sprengel anomaly, Talipes equinovarus, Tetralogy of Fallot, Thin skin, Toe syndactyly, Triphalangeal thumb, Trismus, Unilateral renal agenesis, Urticaria, Velopharyngeal insufficiency, Ventricular septal defect, Wide anterior fontanel, Wide mouth, Wide nasal bridge, obsolete Hand oligodactyly [+]
Mouse (9 sources): abnormal neurocranium morphology, cervical vertebral transformation, decreased body size, decreased forebrain size, decreased lumbar vertebrae number, decreased neuronal precursor proliferation, embryonic lethality before implantation, complete penetrance, lumbar vertebral transformation, thoracic vertebral transformation
View all ortholog results at Monarch