Phenotypes associated with this allele

• Allele Symbol: Ppil1^em3Jgg
• Allele Name: endonuclease-mediated mutation 3, Joseph Gleeson
• Allele ID: MGI:6509459
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ppil1^em3Jgg/Ppil1^em3Jgg	C57BL/6-Ppil1^em3Jgg	MGI:6509636
ht2	Ppil1^em2Jgg/Ppil1^em3Jgg	C57BL/6-Ppil1^em2Jgg Ppil1^em3Jgg	MGI:6509648

Genotype
MGI:6509636

hm1

• Allelic Composition: Ppil1^em3Jgg/Ppil1^em3Jgg
• Genetic Background: C57BL/6-Ppil1^em3Jgg

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

nervous system

increased neuron apoptosis ( J:300487 )

• in embryonic brain starting at E12.5

decreased forebrain volume ( J:300487 )

• severely reduced cerebellum and cerebrum size

forebrain hypoplasia ( J:300487 )

• severely reduced cerebellum and cerebrum size

abnormal cerebral cortex morphology ( J:300487 )

• reduced surface area and thickness with severe loss of neurons

• normal lamination

decreased cerebral cortex average cell area ( J:300487 )

loss of cortex neurons ( J:300487 )

• 25% reduction of CUX+ upper layer and 60% reduction of CTIP2+ deep layer neurons

thin cerebral cortex ( J:300487 )

mortality/aging

neonatal lethality, complete penetrance ( J:300487 )

• mice born at normal Mendelian ratio but die within 24 hrs

cellular

increased neuron apoptosis ( J:300487 )

• in embryonic brain starting at E12.5

growth/size/body

microcephaly ( J:300487 )

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

Genotype
MGI:6509648

ht2

• Allelic Composition: Ppil1^em2Jgg/Ppil1^em3Jgg
• Genetic Background: C57BL/6-Ppil1^em2Jgg Ppil1^em3Jgg

embryo

decreased embryo size ( J:300487 )

• small and severely malformed embryos at E18.5

growth/size/body

decreased embryo size ( J:300487 )

• small and severely malformed embryos at E18.5