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Symbol
Name
ID
Pou1f1
POU domain, class 1, transcription factor 1
MGI:97588
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Hypoglycemic seizures
Growth hormone deficiency
Pituitary dwarfism
Anterior pituitary agenesis
Anterior pituitary hypoplasia
Ectopic anterior pituitary gland
Hypopituitarism
Anterior hypopituitarism
Abnormal prolactin level
Gonadotropin deficiency
Panhypopituitarism
Pituitary hypothyroidism
Ectopic posterior pituitary
Optic nerve hypoplasia
Septo-optic dysplasia
Agenesis of corpus callosum
Absent septum pellucidum
Holoprosencephaly
Intellectual disability
Severe global developmental delay
Seizures
Disease(s) Associated with POU1F1
hypopituitarism

Mouse Phenotypes
increased pituitary gland apoptosis
abnormal adenohypophysis morphology
absent lactotrophs
absent somatotrophs
decreased thyrotroph cell number
adenohypophysis hypoplasia
abnormal orientation of outer hair cell stereociliary bundles
abnormal cochlear outer hair cell morphology
cochlear outer hair cell degeneration
short cochlear outer hair cells
abnormal hair cell physiology
absent cochlear microphonics
abnormal cerebellum development
abnormal cerebellar foliation
abnormal dentate gyrus morphology
abnormal hippocampus pyramidal cell layer
abnormal hippocampus pyramidal cell morphology
decreased hippocampus pyramidal cell number
abnormal cerebellar granule layer morphology
ectopic cerebellar granule cells
Availability Mouse Genotype
Pou1f1dw-J/Pou1f1dw-J
Pou1f1dw/Pou1f1dw

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
01/07/2020
MGI 6.14
The Jackson Laboratory