dyrk1a Phenotypes

Summary

Expression

Phenotypes

XB-GENEPAGE-1017104

Gene Symbol: dyrk1a Gene Name: dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1A

Anatomical Phenotypes Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.
abnormal multiciliated cell (6 sources), abnormally decreased number of cilium in the ciliated cell (6 sources), abnormal brain morphology (2 sources), abnormal distal tubule morphology (2 sources), abnormal epidermal cell morphology (2 sources), abnormal proximal tubule morphology (2 sources), abnormal telencephalon (2 sources), decreased size of the telencephalon (2 sources), edematous embryo (1 source)

Anatomical Phenotypes

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

abnormal multiciliated cell (6 sources), abnormally decreased number of cilium in the ciliated cell (6 sources), abnormal brain morphology (2 sources), abnormal distal tubule morphology (2 sources), abnormal epidermal cell morphology (2 sources), abnormal proximal tubule morphology (2 sources), abnormal telencephalon (2 sources), decreased size of the telencephalon (2 sources), edematous 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: dyrk1a manipulated (6 sources), dyrk1a assayed (2 sources)
Computed annotations: dyrk1a manipulated (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.
CAKUT (3AP sources)

Experiments (Reagents) These are short form descriptions of experiments using reagents targeting the gene of interest.
Xtr WT + dyrk1a CRISPR (7 sources), Xtr WT + dyrk1a MO (5 sources), Xla Wt + dyrk1a MO (2 sources), Xla Wt + dyrk1a MO (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (92 sources): Abnormal facial shape, Abnormal pinna morphology, Abnormality of the cervical spine, Acromesomelia, Amblyopia, Anterior pituitary hypoplasia, Anxiety, Aortic regurgitation, Aortic valve stenosis, Arachnodactyly, Astigmatism, Ataxia, Autism, Autistic behavior, Behavioral abnormality, Birth length less than 3rd percentile, Breast hypoplasia, Bulbous nose, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Corneal opacity, Cryptorchidism, Deeply set eye, Delayed speech and language development, Duodenal atresia, Eczematoid dermatitis, Enlarged cisterna magna, Exotropia, Failure to thrive, Failure to thrive in infancy, Febrile seizure (within the age range of 3 months to 6 years), Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hallux valgus, Happy demeanor, Hydronephrosis, Hyperactivity, Hypermetropia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypospadias, Hypotelorism, Inappropriate laughter, Incoordination, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Kyphosis, Macrotia, Microcephaly, Micrognathia, Micropenis, Motor stereotypy, Multiple joint contractures, Myopia, Narrow forehead, Narrow nasal tip, Oligohydramnios, Optic disc pallor, Patent ductus arteriosus, Pectus excavatum, Pelvic kidney, Polydactyly, Poor speech, Primary microcephaly, Prominent nasal bridge, Protruding ear, Pyloric stenosis, Recurrent infections, Renal cyst, Scoliosis, Seizure, Severe global developmental delay, Short stature, Small for gestational age, Smooth philtrum, Stereotypical hand wringing, Strabismus, Structural foot deformity, Thick lower lip vermilion, Thickened helices, Thin upper lip vermilion, Toe syndactyly, Unilateral renal agenesis, Ventricular septal defect, Ventriculomegaly, Visual impairment, Vomiting [+]
Mouse (35 sources): abnormal brain size, abnormal cerebral cortex pyramidal cell morphology, abnormal dentate gyrus morphology, abnormal hippocampus molecular cell layer, abnormal hippocampus stratum oriens morphology, abnormal nervous system development, abnormal premotor cortex morphology, abnormal somatosensory cortex morphology, abnormal third ventricle morphology, decreased body length, decreased body size, decreased brain size, decreased brain weight, decreased double-positive T cell number, decreased embryo size, decreased heart weight, decreased hindbrain size, decreased hippocampus volume, decreased immature B cell number, decreased liver weight, decreased mature B cell number, decreased midbrain size, decreased pre-B cell number, decreased superior colliculus size, decreased thymocyte number, embryonic growth retardation, embryonic lethality during organogenesis, incomplete penetrance, embryonic lethality, complete penetrance, increased T cell apoptosis, increased brain size, increased brain weight, lethality, incomplete penetrance, postnatal lethality, incomplete penetrance, small tectum, transmission ratio distortion [+]
View all ortholog results at Monarch