G6pdx^tm1Luz
Targeted Allele Detail

Summary

• Symbol: G6pdx^tm1Luz
• Name: glucose-6-phosphate dehydrogenase X-linked; targeted mutation 1, Lucio Luzzatto
• MGI ID: MGI:2387672
• Synonyms: G6PD(-)
• Gene: G6pdx Location: ChrX:73453089-73472486 bp, - strand Genetic Position: ChrX, 38.0 cM, cytoband A2-A3
• Alliance: G6pdx^tm1Luz page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:78546
• Parent Cell Line: CJ7 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: A neomycin selection cassette was inserted proximally to exon 3 via homologous recombination. Northern blot analysis of ES cells showed normal length transcript present at approximately 5% of wild-type levels. Subsequent sequence analysis identified a slice site between the neo cassette and exon 3, allowing a low rate of normal splicing to occur. (J:78546, J:79389)

Expression

In Structures Affected by this Mutation:

11 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 G6pdx Mutation: 7 strains or lines available

References

• Original: J:78546 Longo L, et al., Maternally transmitted severe glucose 6-phosphate dehydrogenase deficiency is an embryonic lethal. EMBO J. 2002 Aug 15;21(16):4229-39
• All: 2 reference(s)