Phenotypes associated with this allele

• Allele Symbol: Pafah1b1^tm1Or
• Allele Name: targeted mutation 1, Orly Reiner
• Allele ID: MGI:2387783
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pafah1b1^tm1Or/Pafah1b1^tm1Or	Not Specified	MGI:2664548
ht2	Pafah1b1^tm1Or/Pafah1b1^+	Not Specified	MGI:2664549

Genotype
MGI:2664548

hm1

• Allelic Composition: Pafah1b1^tm1Or/Pafah1b1^tm1Or
• Genetic Background: Not Specified

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

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:69631 )

• at implantation stage

Genotype
MGI:2664549

ht2

• Allelic Composition: Pafah1b1^tm1Or/Pafah1b1⁺
• Genetic Background: Not Specified

nervous system

abnormal radial glial cell morphology ( J:69631 )

• abnormal organization of radial glia

abnormal telencephalon development ( J:69631 )

• abnormal emergence of cortical plate in caudal and medial regions of dorsal telencephalon

delayed brain development ( J:69631 )

• delayed formation of the cortical plate

• delayed neuronal migration in the cortex

cellular

abnormal radial glial cell morphology ( J:69631 )

• abnormal organization of radial glia

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
lissencephaly		DOID:0050453	OMIM:PS607432	J:69631
Miller-Dieker lissencephaly syndrome		DOID:0060469	OMIM:247200	J:69631