Plp1^tm1Frca
Targeted Allele Detail

Summary

• Symbol: Plp1^tm1Frca
• Name: proteolipid protein (myelin) 1; targeted mutation 1 Franca Cambi
• MGI ID: MGI:3828298
• Synonyms: PLP-ISEdel
• Gene: Plp1 Location: ChrX:135723420-135740482 bp, + strand Genetic Position: ChrX, 59.1 cM, cytoband F1-F2
• Alliance: Plp1^tm1Frca page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:143305
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted
• Mutation: Intragenic deletion
• Mutation details: Using a 'hit and run' strategy 19 bp in intron 3 were deleted. This region is critical for the production of the Plp1 isoform, and its deletion results in decreased transcript expression of the Plp1 isofom relative to the DM20 isoform as confirmed by RT-PCR on brain extracts. (J:143305)

Disease models

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 Plp1 Mutation: 18 strains or lines available

References

• Original: J:143305 Wang E, et al., Deletion of a splicing enhancer disrupts PLP1/DM20 ratio and myelin stability. Exp Neurol. 2008 Dec;214(2):322-30
• All: 2 reference(s)