Phenotypes associated with this allele

• Allele Symbol: Ppil1^em4Jgg
• Allele Name: endonuclease-mediated mutation 4, Joseph Gleeson
• Allele ID: MGI:6509462
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ppil1^em4Jgg/Ppil1^em4Jgg	C57BL/6-Ppil1^em4Jgg	MGI:6509640

Genotype
MGI:6509640

hm1

• Allelic Composition: Ppil1^em4Jgg/Ppil1^em4Jgg
• Genetic Background: C57BL/6-Ppil1^em4Jgg

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

nervous system

increased neuron apoptosis ( J:300487 )

• in embryonic brain

loss of cortex neurons ( J:300487 )

thin cerebral cortex ( J:300487 )

mortality/aging

perinatal lethality, complete penetrance ( J:300487 )

growth/size/body

microcephaly ( J:300487 )

cellular

increased neuron apoptosis ( J:300487 )

• in embryonic brain

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
microcephaly		DOID:10907		J:300487
pontocerebellar hypoplasia type 14		DOID:0112325	OMIM:619301	J:300487