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Pafah1b1tm1Awb
Targeted Allele Detail
Summary
Symbol: Pafah1b1tm1Awb
Name: platelet-activating factor acetylhydrolase, isoform 1b, subunit 1; targeted mutation 1, Anthony Wynshaw-Boris
MGI ID: MGI:2384054
Synonyms: Lis1-, Lis-Neo, Pafah1b1ex6neo-8, Pafah1b1-neo
Gene: Pafah1b1  Location: Chr11:74564775-74615210 bp, - strand  Genetic Position: Chr11, 45.76 cM, cytoband B3
Alliance: Pafah1b1tm1Awb page
Disruption of hippocampal layers in Lrp8tm1Her/Lrp8tm1Her, Pafah1b1tm1Awb/Pafah1b1+, and Lrp8tm1Her/Lrp8tm1Her Pafah1b1tm1Awb/Pafah1b1+ mice

Show the 3 phenotype image(s) involving this allele.

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 (Null/knockout)
Mutation:    Insertion
 
Mutation detailsPart of exon 6 and all of exon 7 were replaced with a PGK-neo cassette in the opposite orientation via homologous recombination. The targeted mutation results in deletion of amino acids 164-214 and introduces multiple stop codons into exon 6. Homozygous mutant embryos were observed between E5.5 and E7.5 via Southern blot analysis. (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: 4 assay results
1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 10 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains 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:  37 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