Dp(XTceal3-Plp1)1Gmh
Targeted Allele Detail

Summary

• Symbol: Dp(XTceal3-Plp1)1Gmh
• Name: duplication 1, Grace Hobson; duplication, Chr X, Grace Hobson 1
• MGI ID: MGI:3852180
• Synonyms: Dp(XMHPN312j24-MHPP264b06)1Tju, Dp(XTceal3-Plp1)1Tju, Plp1 dup
• Gene: Dp(XTceal3-Plp1)1Gmh Location: ChrX:135491593-135739331 bp Genetic Position: ChrX, Syntenic

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:199809
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted
• Mutation: Insertion
• Dp(XTceal3-Plp1)1Gmh involves 9 genes/genome features (Gm23068, Tceal3, Gm15010 ...) View all
• Mutation details: Micer clones MHPN312j24 (NCBIM37, 133123007-133127471) and MHPP264b06 (NCBIM37, 133374577-133383807) and cre mediated recombination were used to generate a tandem head-to-tail duplication of a 260.8 kb region between the two sites and a complete HPRT gene at the junction. The duplication spans from Tceal3 through 9.5 kb distal of Plp1. Presence of a duplication was confirmed in mice by semiquantitative multiplex PCR, Southern blot analysis, and FISH. qRT-PCR indicates an increase in Plp1, Tceal1, Tceal3, Morf4l2 and BC065397 transcript levels at multiple postnatal time points. (J:199809)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Dp(XTceal3-Plp1)1Gmh Mutation: 1 strain or line available

References

• Original: J:199809 Clark K, et al., Gait abnormalities and progressive myelin degeneration in a new murine model of pelizaeus-merzbacher disease with tandem genomic duplication. J Neurosci. 2013 Jul 17;33(29):11788-99
• All: 1 reference(s)