Gmppa^{tm1d(EUCOMM)Wtsi}
Targeted Allele Detail

Summary

• Symbol: Gmppa^{tm1d(EUCOMM)Wtsi}
• Name: GDP-mannose pyrophosphorylase A; targeted mutation 1d, Wellcome Trust Sanger Institute
• MGI ID: MGI:6711468
• Gene: Gmppa Location: Chr1:75412574-75419823 bp, + strand Genetic Position: Chr1, 39.04 cM, cytoband C3
• Alliance: Gmppa^{tm1d(EUCOMM)Wtsi} page
• IMPC: Gmppa gene page

Mutation origin

• Mutant Cell Line: EPD0621_7_G03
• Germline Transmission: Earliest citation of germline transmission: J:305791
• Parent Cell Line: JM8A3.N1 (ES Cell)
• Strain of Origin: C57BL/6N-A^tm1Brd
• Project Collection: EUCOMM

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion Vector: L1L2_Bact_P
• Mutation details: The L1L2_Bact_P cassette was inserted at position 75414469 of Chromosome 1 upstream of the critical exon 5 (Build GRCm39). The cassette is composed of an FRT site followed by lacZ sequence and a loxP site. This first loxP site is followed by a neomycin resistance gene under the control of the human beta-actin promoter, SV40 polyA, a second FRT site and a second loxP site. A third loxP site is inserted downstream of the targeted exon 5 at position 75415288. The critical exon 5 is thus flanked by loxP sites. A "conditional ready" (floxed) allele can be created by flp recombinase expression in mice carrying this allele. Subsequent cre expression results in exon 5 removal and a knockout mouse. Immunoblot analysis confirmed absence of protein. (J:305791)

Disease models

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

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 Gmppa Mutation: 23 strains or lines available

Notes

Mutant cell line EPD0621_7_G03 was used to create mutant mice which demonstrated germline transmission (J:305791).

References

• Original: J:305791 Franzka P, et al., GMPPA defects cause a neuromuscular disorder with alpha-dystroglycan hyperglycosylation. J Clin Invest. 2021 May 3;131(9)
• All: 1 reference(s)