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| Nomenclature |
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Symbol:
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Pafah1b1tm1Or
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Name:
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platelet-activating factor acetylhydrolase, isoform 1b, subunit 1;
targeted mutation 1, Orly Reiner
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MGI ID: |
MGI:2387783 |
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Synonyms: |
sLIS1 |
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Gene:
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Pafah1b1
Location:
Chr11:74673949-74724670 bp, - strand
Genetic Position: Chr11,
45.76 cM, cytoband B3
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:69631
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Intragenic deletion |
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Mutation details: Flanking 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Pafah1b1 Mutation:
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147 strains or lines available |
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| References |
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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
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All: |
3 reference(s)
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Analysis Tools
