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| Nomenclature |
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Symbol:
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Pafah1b1tm2.2Awb
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Name:
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platelet-activating factor acetylhydrolase, isoform 1b, subunit 1;
targeted mutation 2.2, Anthony Wynshaw-Boris
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MGI ID: |
MGI:2384063 |
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Synonyms: |
Pafah1b1-del, Pafah1b1delex3-6 |
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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:49531
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Parent Cell Line:
| TC1/TC-1 (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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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: The mutation is derived from Pafah1b1tm2Awb by mating to a cre expressing transgenic line to remove the PGK-neo cassette and genomic regions between intron 2 and intron 6 loxP sites. The deletion eliminates exons 3-6 encoding amino acids 11-189. Homozygous mutant embryos were observed between E5.5 and E7.5 via Southern blot analysis. (J:49531)
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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: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
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All: |
3 reference(s)
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