pnpt1 Phenotypes

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Phenotypes

Gene Literature (0)

Nucleotides (128)

Interactants (21)

XB-GENEPAGE-967250

Gene Symbol: pnpt1 Gene Name: polyribonucleotide nucleotidyltransferase 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (42 sources): Abnormal corpus callosum morphology, Abnormal corpus striatum morphology, Abnormality of eye movement, Abnormality of the basal ganglia, Absent speech, Ankle flexion contracture, Axial hypotonia, Cataract, Choreoathetosis, Decreased nerve conduction velocity, Delayed myelination, Developmental cataract, Dyskinesia, Dystonia, Elevated CSF neopterin level, Failure to thrive, Feeding difficulties, Gastrostomy tube feeding in infancy, Generalized hypotonia, Growth delay, Hearing impairment, Hip contracture, Hyporeflexia, Increased CSF lactate, Increased circulating lactate concentration, Intrauterine growth retardation, Leukodystrophy, Limb dystonia, Lower limb hypertonia, Mitochondrial respiratory chain defects, Muscle weakness, Nystagmus, Orofacial dyskinesia, Poor head control, Profound static encephalopathy, Sensorineural hearing impairment, Sensory neuropathy, Severe muscular hypotonia, Skeletal muscle atrophy, Subsarcolemmal accumulations of abnormally shaped mitochondria, Type 1 muscle fiber predominance, Type 2 muscle fiber atrophy [+]
Mouse (7 sources): abnormal clavicle morphology, abnormal mitochondrial ATP synthesis coupled electron transport, abnormal mitochondrial crista morphology, abnormal mitochondrial physiology, embryonic lethality, increased mean corpuscular hemoglobin, no abnormal phenotype detected
View all ortholog results at Monarch