Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Pafah1b1tm2.2Awb
Name:	platelet-activating factor acetylhydrolase, isoform 1b, subunit 1; targeted mutation 2.2, Anthony Wynshaw-Boris
MGI ID:	MGI:2384063
Synonyms:	Pafah1b1-del, Pafah1b1delex3-6
Gene:	Pafah1b1  Location: Chr11:74564775-74615210 bp, - strand  Genetic Position: Chr11, 45.76 cM, cytoband B3
Alliance:	Pafah1b1tm2.2Awb page

Germline Transmission:	Earliest citation of germline transmission: J:49531
Parent Cell Line:	TC1/TC-1 (ES Cell)
Strain of Origin:	129S6/SvEvTac

Allele Type:    Targeted (Null/knockout) Mutation:    Intragenic deletion   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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

4 anatomical structure(s)

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:	159 strains or lines available

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)