G6pdx^a-m1Neu
Chemically induced Allele Detail

Summary

• Symbol: G6pdx^a-m1Neu
• Name: glucose-6-phosphate dehydrogenase X-linked; mutation 1, Neuherberg
• MGI ID: MGI:2182739
• Synonyms: G6PD 10168, G6PD^def, G6PD^mut, Gpdx^1Neu
• Gene: G6pdx Location: ChrX:73453089-73472486 bp, - strand Genetic Position: ChrX, 38.0 cM, cytoband A2-A3
• Alliance: G6pdx^a-m1Neu page

Mutation origin

• Strain of Origin: 102/El

Mutation description

• Allele Type: Chemically induced (ENU) (Hypomorph)
• Mutation: Single point mutation
• Mutation details: The mutation is an A to T transversion in the 5' splice site consensus sequence at the 3' terminal of exon 1. Decreased protein levels were determined in homozygous mutant mice via Western blot analysis. This is a hypomorphic allele; in hemizygous males, heterozygous females, and homozygous females, the activity level in blood is 20%, 60%, and 15% of normal, respectively. (J:38596)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any G6pdx Mutation: 7 strains or lines available

Notes

The original mutant was an offspring of a (102/El x C3H/El)F1 male that had received 250 mg/kg ENU mated to a tester stock female. Therefore, the mutation arose on a 102/El X Chromosome.

References

• Original: J:13991 Charles DJ, et al., Research News. Mouse News Lett. 1984;71:37-38
• All: 34 reference(s)