Ppt2^tm1Hof
Targeted Allele Detail

Summary

• Symbol: Ppt2^tm1Hof
• Name: palmitoyl-protein thioesterase 2; targeted mutation 1, Sandra L Hoffmann
• MGI ID: MGI:2176405
• Gene: Ppt2 Location: Chr17:34835636-34847484 bp, - strand Genetic Position: Chr17, 18.19 cM
• Alliance: Ppt2^tm1Hof page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:72931
• Parent Cell Line: SM1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: A loxP-flanked neomycin selection cassette was inserted into exon 3 of the gene. Northern blot analysis on RNA derived from kidney and brain of homozygous mice demonstrated that no detectable transcript was produced from this allele. Western blot analysis on extracts prepared from kidney of homozygous mice confirmed that no protein was expressed from this allele. (J:72931)

Disease models

Expression

In Structures Affected by this Mutation:

16 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Ppt2 Mutation: 25 strains or lines available

References

• Original: J:72931 Gupta P, et al., Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. Proc Natl Acad Sci U S A. 2001 Nov 20;98(24):13566-71
• All: 3 reference(s)