Pafah1b1^tm2.2Awb
Targeted Allele Detail

Summary

• Symbol: Pafah1b1^tm2.2Awb
• Name: platelet-activating factor acetylhydrolase, isoform 1b, subunit 1; targeted mutation 2.2, Anthony Wynshaw-Boris
• MGI ID: MGI:2384063
• Synonyms: Pafah1b1-del, Pafah1b1^delex3-6
• Gene: Pafah1b1 Location: Chr11:74564775-74615210 bp, - strand Genetic Position: Chr11, 45.76 cM, cytoband B3
• Alliance: Pafah1b1^tm2.2Awb 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 (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: The mutation is derived from Pafah1b1^tm2Awb 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)

Disease models

Expression

In Structures Affected by this Mutation:

4 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: 4 reference(s)