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Pafah1b1tm2Awb
Targeted Allele Detail
Summary
Symbol: Pafah1b1tm2Awb
Name: platelet-activating factor acetylhydrolase, isoform 1b, subunit 1; targeted mutation 2, Anthony Wynshaw-Boris
MGI ID: MGI:2384060
Synonyms: Lis1-loxP, Pafah1b1-loxP, Pafah1b1loxPex3-6
Gene: Pafah1b1  Location: Chr11:74564775-74615210 bp, - strand  Genetic Position: Chr11, 45.76 cM, cytoband B3
Alliance: Pafah1b1tm2Awb page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:49531
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Conditional ready, Hypomorph)
Mutation:    Insertion
 
Mutation detailsA floxed PGK-neo cassette was inserted into intron 2 and a third loxP site was introduced into intron 6 via homologous recombination. This allele is hypomorphic, because of disruption of transcription or splicing by the insertion of a phosphoglycerate kinase neomycin cassette from the targeting vector into the second intron (J:82268). (J:49531)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 6 assay results
1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 6 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Pafah1b1 Mutation:  160 strains or lines available
References
Original:  J:49531 Hirotsune S, et al., Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality [see comments]. Nat Genet. 1998 Aug;19(4):333-9
All:  24 reference(s)

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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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory