Ppt1^tm1.1Abm
Targeted Allele Detail

Summary

• Symbol: Ppt1^tm1.1Abm
• Name: palmitoyl-protein thioesterase 1; targeted mutation 1.1, Anil B Mukherjee
• MGI ID: MGI:6158926
• Synonyms: c.451C-T, Ppt1-KI, p.R151X
• Gene: Ppt1 Location: Chr4:122730035-122752968 bp, + strand Genetic Position: Chr4, 57.27 cM, cytoband D1-D3
• Alliance: Ppt1^tm1.1Abm page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:261869
• Parent Cell Line: PRX-B6T (ES Cell)
• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutation: Single point mutation
• Mutation details: A C-to-T nonsense mutation was introduced into the germline at posiition 451 [c.451C>T (CGA>TGA)]. This mutation is predicted to alter codon 151 from arginine to a stop codon (p.R151X). A loxP-flanked neomycin selection cassette was removed in ES cells prior to making chimeric mice. (J:261869)

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 Ppt1 Mutation: 18 strains or lines available

References

• Original: J:261869 Bouchelion A, et al., Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype. Ann Clin Transl Neurol. 2014 Dec;1(12):1006-23
• All: 3 reference(s)