Mpz^tm1.1Wra
Targeted Allele Detail

Summary

• Symbol: Mpz^tm1.1Wra
• Name: myelin protein zero; targeted mutation 1.1, Lawrence Wrabetz
• MGI ID: MGI:5824069
• Synonyms: Mpz^Q215X
• Gene: Mpz Location: Chr1:170978282-170988699 bp, + strand Genetic Position: Chr1, 79.05 cM
• Alliance: Mpz^tm1.1Wra page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:171510
• Parent Cell Line: TBV2 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutation: Single point mutation
• Mutation details: Exon 5 was engineered with a C to T mutation that altered the sequence to change codon 215 from one encoding glutamine to a premature stop codon (p.Q215*). A floxed neomycin selection cassette was also inserted downstream of exon 5 and subsequently removed via cre-mediated recombination. Western blot confirmed the production of a smaller truncated protein zero lacking 33 amino acids of the C-terminal intracellular domain and with a molecular weight of approximately 24 kDa that is expressed at low levels. This truncated protein shows altered trafficking to non-myelin plasma membranes. (J:171510, J:267903)

Disease models

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(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 Mpz Mutation: 28 strains or lines available

References

• Original: J:171510 Fratta P, et al., P0S63del impedes the arrival of wild-type P0 glycoprotein to myelin in CMT1B mice. Hum Mol Genet. 2011 Jun 1;20(11):2081-90
• All: 3 reference(s)