Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | Notes | References

Symbol:	G6pdxa-m1Neu
Name:	glucose-6-phosphate dehydrogenase X-linked; mutation 1, Neuherberg
MGI ID:	MGI:2182739
Synonyms:	G6PD 10168, G6PDdef, G6PDmut, Gpdx1Neu
Gene:	G6pdx  Location: ChrX:73453089-73472486 bp, - strand  Genetic Position: ChrX, 38.0 cM, cytoband A2-A3
Alliance:	G6pdxa-m1Neu page

Strain of Origin:

102/El

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

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

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