Phenotypes associated with this allele

• Allele Symbol: Pafah1b1^tm2.2Awb
• Allele Name: targeted mutation 2.2, Anthony Wynshaw-Boris
• Allele ID: MGI:2384063
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pafah1b1^tm2.2Awb/Pafah1b1^tm2.2Awb	involves: 129S6/SvEvTac * NIH Black Swiss	MGI:2664129
ht2	Pafah1b1^tm2.2Awb/Pafah1b1^+	involves: 129S6/SvEvTac * NIH Black Swiss	MGI:2664130
cx3	Pafah1b1^tm2.2Awb/Pafah1b1^+ Ndel1^tm1.1Shr/Ndel1^+	involves: 129S6/SvEvTac	MGI:3589751

Genotype
MGI:2664129

hm1

• Allelic Composition: Pafah1b1^tm2.2Awb/Pafah1b1^tm2.2Awb
• Genetic Background: involves: 129S6/SvEvTac * NIH Black Swiss

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

mortality/aging

embryonic lethality, complete penetrance ( J:49531 )

• 50% dead by E5.5, 50% dead between E5.5 and E9.5

Genotype
MGI:2664130

ht2

• Allelic Composition: Pafah1b1^tm2.2Awb/Pafah1b1⁺
• Genetic Background: involves: 129S6/SvEvTac * NIH Black Swiss

nervous system

enlarged brain ventricles ( J:49531 )

abnormal hippocampus morphology ( J:49531 )

abnormal stratification in cerebral cortex ( J:49531 )

abnormal olfactory bulb morphology ( J:49531 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
lissencephaly		DOID:0050453	OMIM:PS607432	J:49531
Miller-Dieker lissencephaly syndrome		DOID:0060469	OMIM:247200	J:49531

Genotype
MGI:3589751

cx3

• Allelic Composition: Pafah1b1^tm2.2Awb/Pafah1b1⁺; Ndel1^tm1.1Shr/Ndel1⁺
• Genetic Background: involves: 129S6/SvEvTac

nervous system

abnormal telencephalon development ( J:100552 )

• dendritic extensions of postmiotic neurons in the cortical plate are irregular and fragmented

abnormal hippocampus pyramidal cell morphology ( J:100552 )

• partial splitting of the pyramidal cells in the CA3 regions of the hippocampus is seen unlike in either single heterozygote