Summary | Transgene origin | Transgene description | Find Mice (IMSR) | References

Symbol:	Tg(Mpz*L106I)1Msch
Name:	transgene insertion 1, Melitta Schachner
MGI ID:	MGI:5003283
Synonyms:	P0sub1, TgP0sub1, Tg(P0)sub1Msch
Transgene:	Tg(Mpz*L106I)1Msch  Location: unknown
Alliance:	Tg(Mpz*L106I)1Msch page

Strain of Origin:

FVB

Transgene Type:    Transgenic (Inserted expressed sequence) Mutation:    Insertion   Tg(Mpz*L106I)1Msch expresses 1 gene Transgene expresses: Organism Expressed Gene Note mouse Mpz (MGI:103177) Transgene codes for a protein with a leucine to isoleucine mutation.   Mutation details: The transgenic construct contains a mutant form of the mouse peripheral myelin protein zero (Mpz) gene that replicates the human "P0sub" mutation associated with a severe, early onset, tumaculous form of Charcot-Marie-Tooth disease Type 1B (CMT1B). The construct comprises 6 kb of 5' flanking sequence, all exons and introns, and the Mpz polyadenylation signal; the mutation is an A to T transversion at nucleotide position 1644 (from the translation initiating ATG) that results in replacement of leucine by isoleucine at amino acid position 106 of the protein (L106I). Analysis of total sciatic nerve RNA from transgenic mice by RT-PCR followed by digestion with an endonuclease for which the mutation introduces a new recognition site demonstrated 6-fold greater expression of the mutant than of the endogenous transcript. In contrast, the proportion of protein zero (P0)/total protein in whole sciatic nerve homogenates from transgenic mice, as measured by immunoblot analysis, is ~10-fold lower than in nerves from wild-type mice. In the myelin fraction of peripheral (sciatic, femoral and dorsal root) nerve homogenates from transgenic mice of line 1, the proportion of P0/total protein is ~5-fold lower than in myelin from nerves of wild-type mice. (J:91162) Inheritance:    Dominant

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

Original:	J:91162 Runker AE, et al., Pathology of a mouse mutation in peripheral myelin protein P0 is characteristic of a severe and early onset form of human Charcot-Marie-Tooth type 1B disorder. J Cell Biol. 2004 May 24;165(4):565-73
All:	1 reference(s)