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Symbol
Name
ID
Bptf
bromodomain PHD finger transcription factor
MGI:2444008
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Microcephaly
Abnormal cerebral white matter morphology
Delayed speech and language development
Intellectual disability
Global developmental delay
Motor delay
Disease(s) Associated with BPTF
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Mouse Phenotypes
increased neuron apoptosis
abnormal neuronal precursor proliferation
abnormal olfactory sensory neuron morphology
microgliosis
decreased brain weight
decreased forebrain size
forebrain hypoplasia
abnormal cerebral cortex morphology
abnormal stratification in cerebral cortex
decreased neuronal precursor cell number
abnormal neuron specification
decreased prepulse inhibition
Availability Mouse Genotype
Bptfem1(IMPC)Bay/Bptf+
Bptftm1.1Cwu/Bptftm1.1Cwu
Foxg1tm1(cre)Skm/?  (conditional)
Bptftm1.1Cwu/Bptftm1.1Cwu
Emx1tm1(cre)Krj/Emx1+  (conditional)

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
04/30/2024
MGI 6.23
The Jackson Laboratory