actg1 Phenotypes

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Phenotypes

Gene Literature (14)

Nucleotides (5353)

Interactants (774)

XB-GENEPAGE-491617

Gene Symbol: actg1 Gene Name: actin gamma 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (76 sources): Abnormal cardiovascular system morphology, Abnormal pinna morphology, Abnormality of the upper urinary tract, Agenesis of corpus callosum, Aphasia, Bilateral sensorineural hearing impairment, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Coarse facial features, Coloboma, Delayed cranial suture closure, Depressed nasal tip, Downslanted palpebral fissures, Duplication of thumb phalanx, Dysphasia, Echolalia, Epicanthus, Euryblepharon, Failure to thrive, Feeding difficulties, Full cheeks, Global developmental delay, Growth delay, Hearing impairment, Heterochromia iridis, Highly arched eyebrow, Hydronephrosis, Hydroureter, Hypertelorism, Intellectual disability, Iris coloboma, Joint stiffness, Large fontanelles, Lissencephaly, Long nose, Long palpebral fissure, Long philtrum, Low posterior hairline, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Mutism, Optic disc coloboma, Orofacial cleft, Osteochondrosis, Pachygyria, Palpebral edema, Pointed chin, Polymicrogyria, Progressive sensorineural hearing impairment, Prominent metopic ridge, Prominent nose, Ptosis, Retinoschisis, Retrognathia, Scoliosis, Secondary microcephaly, Seizure, Short columella, Short neck, Short stature, Skeletal dysplasia, Specific learning disability, Subcortical cerebral atrophy, Telecanthus, Thin upper lip vermilion, Thin vermilion border, Transient ischemic attack, Trigonocephaly, Ventriculomegaly, Webbed neck, Wide mouth, Wide nasal bridge, Wide nose, obsolete Macrogyria [+]
Mouse (17 sources): abnormal Z line morphology, abnormal cochlear hair cell stereociliary bundle morphology, abnormal cranium morphology, abnormal embryo size, abnormal skin appearance, deafness, decreased locomotor activity, decreased outer hair cell stereocilia number, digestive/alimentary phenotype, impaired skeletal muscle contractility, increased or absent threshold for auditory brainstem response, increased susceptibility to age-related hearing loss, increased variability of skeletal muscle fiber size, limb grasping, perinatal lethality, incomplete penetrance, premature death, preweaning lethality, incomplete penetrance [+]
View all ortholog results at Monarch