Symbol
Name
ID

Ppil1
peptidylprolyl isomerase (cyclophilin)-like 1
MGI:1916066

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Spastic tetraplegia

Delayed CNS myelination

Hypoplasia of the pons

Hypoplasia of the brainstem

Hydrocephalus

Simplified gyral pattern

Agenesis of corpus callosum

Cerebellar hypoplasia

Absent speech

Delayed early-childhood social milestone development

Intellectual disability, severe

Brisk reflexes

Dystonia

Motor delay

Bilateral tonic-clonic seizure

Focal-onset seizure

Infantile spasms

Myoclonic seizure

Disease(s) Associated with PPIL1

pontocerebellar hypoplasia type 14

Mouse Phenotypes		nervous system phenotype	increased neuron apoptosis	decreased forebrain volume	forebrain hypoplasia	abnormal cerebral cortex morphology	decreased cerebral cortex average cell area	loss of cortex neurons	thin cerebral cortex
Availability	Mouse Genotype	nervous system phenotype	increased neuron apoptosis	decreased forebrain volume	forebrain hypoplasia	abnormal cerebral cortex morphology	decreased cerebral cortex average cell area	loss of cortex neurons	thin cerebral cortex
	Ppil1^em3Jgg/Ppil1^em3Jgg
	Ppil1^em4Jgg/Ppil1^em4Jgg
	Ppil1^em5Jgg/Ppil1^em5Jgg	*

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/23/2024 MGI 6.23