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Mpztm1.1Wra
Targeted Allele Detail
Summary
Symbol: Mpztm1.1Wra
Name: myelin protein zero; targeted mutation 1.1, Lawrence Wrabetz
MGI ID: MGI:5824069
Synonyms: MpzQ215X
Gene: Mpz  Location: Chr1:170978282-170988699 bp, + strand  Genetic Position: Chr1, 79.05 cM
Alliance: Mpztm1.1Wra 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 detailsExon 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory