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Symbol
Name
ID
Pqbp1
polyglutamine binding protein 1
MGI:1859638
Phenotype annotations related to nervous system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Microcephaly
Spasticity
Cerebral atrophy
Anxiety
Intellectual disability
Hyperreflexia
Global developmental delay
Seizure
Disease(s) Associated with PQBP1
Renpenning syndrome

Mouse Phenotypes
nervous system phenotype
decreased brain weight
decreased brain size
abnormal hippocampus CA1 region morphology
abnormal dentate gyrus morphology
abnormal hippocampus pyramidal cell layer
thin cerebral cortex
abnormal neuronal stem cell morphology
abnormal neuron morphology
Availability Mouse Genotype
Pqbp1tm1.1Hiok/Pqbp1+
Tg(Nes-cre)1Kln/0  (conditional)
Pqbp1tm1.1Hiok/Pqbp1+
Tg(Syn1-cre)671Jxm/0  (conditional)
*
Pqbp1tm1.1Hiok/Y
Tg(Nes-cre)1Kln/0  (conditional)
*
Pqbp1tm1.1Hiok/Y
Tg(Syn1-cre)671Jxm/0  (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
04/23/2024
MGI 6.23
The Jackson Laboratory