Mpztm1.1Wra
Targeted Allele Detail
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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
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Alliance: |
Mpztm1.1Wra page
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Germline Transmission: |
Earliest citation of germline transmission:
J:171510
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Parent Cell Line: |
TBV2 (ES Cell)
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Strain of Origin: |
129S2/SvPas
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Allele Type: |
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Targeted (Not Applicable) |
Mutation: |
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Single point mutation
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Mpz Mutation: |
28 strains or lines available
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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) |
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