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Allele : Mpz<tm1.1Wra> myelin protein zero; targeted mutation 1.1, Lawrence Wrabetz

Primary Identifier  MGI:5824069 Allele Type  Targeted
Gene  Mpz Transmission  Germline
Strain of Origin  129S2/SvPas Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • Mpz<Q215X>,
  • Mpz<Q215X>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

7 Publication categories

Trail: Allele