pou1f1 Phenotypes

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Phenotypes

Gene Literature (16)

Nucleotides (44)

Interactants (150)

XB-GENEPAGE-854096

Gene Symbol: pou1f1 Gene Name: POU class 1 homeobox 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.
Manual annotations: pou1f1 assayed (1 source)
Computed annotations: pou1f1 assayed (2 sources)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (69 sources): Abdominal distention, Abnormal digit morphology, Abnormal prolactin level, Abnormality of secondary sexual hair, Abnormality of the face, Abnormality of the hypothalamus-pituitary axis, Abnormality of the orbital region, Absence of secondary sex characteristics, Absent septum pellucidum, Agenesis of corpus callosum, Amenorrhea, Anterior pituitary agenesis, Anterior pituitary hypoplasia, Anteverted nares, Aplasia/Hypoplasia of the breasts, Central hypothyroidism, Coarse facial features, Constipation, Decreased cervical spine mobility, Decreased circulating ACTH level, Decreased response to growth hormone stimulation test, Decreased testicular size, Deeply set eye, Delayed cranial suture closure, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Depressed nasal ridge, Ectopic anterior pituitary gland, Ectopic posterior pituitary, Fatigue, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global developmental delay, Growth delay, Holoprosencephaly, Hypoglycemia, Hypogonadotropic hypogonadism, Hypopituitarism, Hypotension, Hypothyroidism, Hypotonia, Infertility, Intellectual disability, Jaundice, Large fontanelles, Macroglossia, Malar flattening, Median cleft lip and palate, Midface retrusion, Optic nerve hypoplasia, Orofacial cleft, Osteopenia, Osteoporosis of vertebrae, Pituitary dwarfism, Pituitary hypothyroidism, Polydactyly, Prolonged neonatal jaundice, Prominent forehead, Seizure, Septo-optic dysplasia, Severe global developmental delay, Severe postnatal growth retardation, Severe short stature, Short nose, Short stature, Sleep disturbance, Umbilical hernia [+]
Mouse (38 sources): abnormal Hensen stripe morphology, abnormal actin cytoskeleton morphology, abnormal adenohypophysis morphology, abnormal cerebellar foliation, abnormal cerebellar granule layer morphology, abnormal cerebellum development, abnormal cochlear outer hair cell morphology, abnormal dentate gyrus morphology, abnormal hair cell physiology, abnormal hippocampus pyramidal cell layer, abnormal hippocampus pyramidal cell morphology, abnormal molar root morphology, abnormal orientation of outer hair cell stereociliary bundles, abnormal pillar cell morphology, abnormal stria vascularis morphology, abnormal strial intermediate cell morphology, abnormal tectorial membrane morphology, abnormal tectorial membrane striated-sheet matrix morphology, abnormal tunnel of Corti morphology, absent cochlear microphonics, absent distortion product otoacoustic emissions, absent lactotrophs, absent somatotrophs, cochlear outer hair cell degeneration, deafness, decreased body size, decreased circulating prolactin level, decreased endocochlear potential, decreased growth hormone level, decreased hippocampus pyramidal cell number, decreased prolactin level, decreased thyrotroph cell number, ectopic cerebellar granule cells, extended life span, increased pituitary gland apoptosis, preweaning lethality, incomplete penetrance, proportional dwarf, short cochlear outer hair cells [+]
View all ortholog results at Monarch