STOCK G6pdxa-m1Neu/H
Status | Available to order |
EMMA ID | EM:00073 |
International strain name | STOCK G6pdxa-m1Neu/H |
Alternative name | glucose-6-phosphate |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | G6pdxa-m1Neu, |
Gene/Transgene symbol | G6pdx |
Information from provider
Provider | Walter Pretsch |
Provider affiliation | Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH) |
Phenotypic information | Low glucose-6-phosphate dehydrogenase, a activity variant. Described in 'Genetic variants and strains of the laboratory mouse' (page 273) and by Charles & Pretsch (1984; Mouse News Letters, 71; 37-38) as having three levels of G6PD activity: 20% in hemizygous males, 60% in heterozygous females and 15% in homozygous females compared to wild-type. Similar levels (12%, 56% and 9% of wild-type respectively) were seen by Peters et al. (Genet Res 52:195-201). Peters et al. reported a reduced recombination frequency between Hq-G6pd-Ta suggesting the X chromosome carrying G6pdx suppresses recombination in this region, but no evidence of a structural rearrangement was detected cytologically. Peters & Ball (Genet Res 56: 245-252) showed greater expression of G6PD in the blood of G6pdx/G6pdx than in the reciprocal (maternal allele quoted first). This difference was greater in older mice (2-6 months) than in younger mice (one month). Sanders et al. (Mut Res 374:79-87) reported finding an A to T transversion in the G6pdx gene, at the 5' splice site consensus sequence at the 3' end of exon 1, part of the untranslated region, which is a likely cause of the lowered activity. |
References |
|
Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Literature references
- X-linked glucose-6-phosphate dehydrogenase deficiency in Mus musculus.;Pretsch W, Charles D J, Merkle S, ;1988;Biochemical genetics;26;89-103; 3377761
- Glucose-6-phosphate dehydrogenase deficiency contributes to metabolic abnormality and pulmonary hypertension.;Varghese Mathews Valuparampil, James Joel, Rafikova Olga, Rafikov Ruslan, ;2021;American journal of physiology. Lung cellular and molecular physiology;320;L508-L521; 33502933
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).