Mpi^tm1.1Frz
Targeted Allele Detail

Summary

• Symbol: Mpi^tm1.1Frz
• Name: mannose phosphate isomerase; targeted mutation 1.1, Hudson H Freeze
• MGI ID: MGI:7256727
• Synonyms: Mpi^Y255C
• Gene: Mpi Location: Chr9:57451539-57460046 bp, - strand Genetic Position: Chr9, 31.05 cM, cytoband C
• Alliance: Mpi^tm1.1Frz page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:320423
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence, Hypomorph)
• Mutations: Insertion, Single point mutation
• Mutation details: 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. (J:320423)

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 Mpi Mutation: 30 strains or lines available

References

• Original: J:320423 Sharma V, et al., Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice. FASEB J. 2014 Apr;28(4):1854-69
• All: 1 reference(s)