Pitpna^tm1Vab
Targeted Allele Detail

Summary

• Symbol: Pitpna^tm1Vab
• Name: phosphatidylinositol transfer protein, alpha; targeted mutation 1, Vytas A Bankaitis
• MGI ID: MGI:2676298
• Synonyms: PITPalpha-, PITPalphadelta1::neo*, PITPalphadelta::neo*
• Gene: Pitpna Location: Chr11:75478923-75519630 bp, + strand Genetic Position: Chr11, 45.92 cM
• Alliance: Pitpna^tm1Vab page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:85204
• Parent Cell Line: AB1 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Disruption caused by insertion of vector
• Mutation details: Exons 8, 9, and 10 were replaced with a neomycin selection cassette inserted by homologous recombination. The deleted region encoded residues 162 through 257 and has been shown to be essential for catalytic activity. Protein was undetected by Western blot analyses of homozygous mutant ES cells and mice. (J:85733)

Disease models

Expression

In Mice Carrying this Mutation:	1 assay results
In Structures Affected by this Mutation:	13 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 Pitpna Mutation: 37 strains or lines available

References

• Original: J:85204 Alb JG Jr, et al., Mice lacking phosphatidylinositol transfer protein-alpha exhibit spinocerebellar degeneration, intestinal and hepatic steatosis, and hypoglycemia. J Biol Chem. 2003 Aug 29;278(35):33501-18
• All: 7 reference(s)