Phenotypes Associated with This Genotype

Genotype
MGI:2664093

• Allelic Composition: Pafah1b1^tm1Awb/Pafah1b1^tm2Awb
• Genetic Background: involves: 129S6/SvEvTac * FVB/N * NIH Black Swiss

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

mortality/aging

postnatal lethality, complete penetrance ( J:49531 )

• all dead by two weeks of age

growth/size/body

decreased body size ( J:49531 )

• runted

nervous system

abnormal dentate gyrus morphology ( J:49531 )

• disorganized

abnormal hippocampus pyramidal cell layer ( J:49531 )

• broad, discontinuous stratum pyrimadale

absent hippocampus stratum oriens ( J:49531 )

• lacked stratum oriens

abnormal stratification in cerebral cortex ( J:49531 )

• no discernible layers

ectopic Purkinje cell ( J:49531 )

• misplaced cells

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