Phenotypes for Pafah1b1 MGI:2664093 MGI Mouse

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Phenotypes Associated with This Genotype

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pafah1b1^tm1Awb mutation (0 available); any Pafah1b1 mutation (158 available)
Pafah1b1^tm2Awb mutation (1 available); any Pafah1b1 mutation (158 available)

♀	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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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