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Pafah1b1tm1Or
Targeted Allele Detail
Summary
Symbol: Pafah1b1tm1Or
Name: platelet-activating factor acetylhydrolase, isoform 1b, subunit 1; targeted mutation 1, Orly Reiner
MGI ID: MGI:2387783
Synonyms: sLIS1
Gene: Pafah1b1  Location: Chr11:74564775-74615210 bp, - strand  Genetic Position: Chr11, 45.76 cM, cytoband B3
Alliance: Pafah1b1tm1Or page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:69631
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsFlanking loxP sites and a neo cassette were introduced to the first ATG codon via homologous recombination. The ATG and neo cassette were removed by mating mutant animals to a PGK-cre line. The deletion results in translation from the second methionine and produces a shorter protein of 345 amino acids (instead of 409 amino acids). The mutant allele was confirmed by Western blot analysis of brain extracts from heterozygous animals. No homozygous mutant animals were born. (J:69631)
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: 51 assay results
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:69631 Cahana A, et al., Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization. Proc Natl Acad Sci U S A. 2001 May 22;98(11):6429-34
All:  5 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