agtpbp1 Phenotypes

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Phenotypes

Gene Literature (1)

Nucleotides (138)

Interactants (14)

XB-GENEPAGE-5932582

Gene Symbol: agtpbp1 Gene Name: ATP/GTP binding carboxypeptidase 1

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.
Computed annotations: agtpbp1 assayed (2 sources)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (21 sources): Abnormality of eye movement, Ataxia, Cerebellar atrophy, Developmental regression, Dysplastic corpus callosum, Dystonia, Failure to thrive, Feeding difficulties, Generalized hypotonia, Global developmental delay, Inability to walk, Microcephaly, Motor delay, Nystagmus, Poor eye contact, Skeletal muscle atrophy, Slow saccadic eye movements, Spasticity, Strabismus, Tetraparesis, Tongue fasciculations [+]
Mouse (41 sources): Purkinje cell degeneration, abnormal Purkinje cell dendrite morphology, abnormal T cell differentiation, abnormal T cell subpopulation ratio, abnormal cerebellar Purkinje cell layer, abnormal cerebellar granule layer morphology, abnormal cochlear VIII nucleus morphology, abnormal cone electrophysiology, abnormal eye electrophysiology, abnormal mitral cell morphology, abnormal photoreceptor connecting cilium morphology, abnormal photoreceptor inner segment morphology, abnormal photoreceptor outer segment morphology, abnormal retina inner plexiform layer morphology, abnormal retina layer morphology, abnormal retina outer nuclear layer morphology, abnormal retina photoreceptor layer morphology, abnormal retina rod cell morphology, abnormal rod electrophysiology, abnormal ventral spinal root morphology, asthenozoospermia, behavior/neurological phenotype, decreased Purkinje cell number, decreased activated sperm motility, decreased amacrine cell number, decreased body size, decreased litter size, decreased skeletal muscle fiber size, decreased spleen weight, hematopoietic system phenotype, homeostasis/metabolism phenotype, immune system phenotype, increased CD4-positive, alpha beta T cell number, increased CD8-positive, alpha-beta T cell number, nervous system phenotype, reduced female fertility, reduced fertility, reduced male fertility, retina photoreceptor degeneration, small cerebellum, thin retina outer nuclear layer [+]
View all ortholog results at Monarch