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Allele : Mpi<tm1.2Frz> mannose phosphate isomerase; targeted mutation 1.2, Hudson H Freeze

Primary Identifier  MGI:7256731 Allele Type  Targeted
Attribute String  Null/knockout Gene  Mpi
Transmission  Germline Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
molecularNote  Tyrosine codon 255 (TAC) in exon 6 was changed to cysteine (TGC) (p.Y255C) and a loxP site and an FRT site flanked neomycin resistance gene cassette was inserted into intron 5 and a second loxP site into intron 8. The mutation is associated with congenital disorder of glycosylation (CDG), type Ib (MPI-CDG or CDG-Ib) in humans. A silent C>A mutation was introduced in the 3rd base of codon 254 to create a diagnostic NdeI restriction site. The neo cassette was remove through subsequent flp-mediated recombination and exons 6-8 were deleted through cre-mediated recombination.
  • mutations:
  • Insertion,
  • Intragenic deletion
  • synonyms:
  • Mpi<->,
  • Mpi<->
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories

Trail: Allele