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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		G6pdxa-m1Neu
mutation 1, Neuherberg
MGI:2182739
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		G6pdxa-m1Neu/G6pdxa-m1Neu involves: 102/El * C3H/El * T-stock MGI:3628915
ht2
 		G6pdxa-m1Neu/G6pdx+ involves: 102/El * C3H/El * T-stock MGI:3628917
cx3
 		G6pdxa-m1Neu/Y
Tg(Myh6-CRYAB*R120G)7302Ijb/0 		involves: 102/El * C3H/El * C57BL/6 MGI:6103875
ot4
 		G6pdxa-m1Neu/Y involves: 102/El * C3H/El * T-stock MGI:3628913


Genotype
MGI:3628915
hm1
Allelic
Composition		 G6pdxa-m1Neu/G6pdxa-m1Neu
Genetic
Background		 involves: 102/El * C3H/El * T-stock
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
G6pdxa-m1Neu mutation (2 available); any G6pdx mutation (8 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
abnormal response to cardiac infarction ( J:102347 )
• exhibit increased susceptibility to ischemia-reperfusion injury; on reperfusion, cardiac relaxation and contractile performance are impaired as shown by elevated end-diastolic pressures and decreased percent recovery of developed pressure relative to wild type
• with ischemia-reperfusion, hearts exhibit increased susceptibility to cellular thiol depletion and redox imbalance relative to wild-type

hematopoietic system
hematopoietic system phenotype ( J:58685 )
N
• although homozygotes only have 15% G6pdx remaining activity in the blood, observe no differences in hematocrit values, red blood-cell counts, hemoglobin content, in the osmotic-fragility of red blood cells, in plasma glucose concentration, in glucose consumption in blood, or in body weight and exhibit no chronic hemolysis under normal conditions

homeostasis/metabolism
abnormal response to cardiac infarction ( J:102347 )
• exhibit increased susceptibility to ischemia-reperfusion injury; on reperfusion, cardiac relaxation and contractile performance are impaired as shown by elevated end-diastolic pressures and decreased percent recovery of developed pressure relative to wild type
• with ischemia-reperfusion, hearts exhibit increased susceptibility to cellular thiol depletion and redox imbalance relative to wild-type




Genotype
MGI:3628917
ht2
Allelic
Composition		 G6pdxa-m1Neu/G6pdx+
Genetic
Background		 involves: 102/El * C3H/El * T-stock
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
G6pdxa-m1Neu mutation (2 available); any G6pdx mutation (8 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
hematopoietic system phenotype ( J:58685 )
N
• although homozygotes only have 60% G6pdx remaining activity in the blood, observe no differences in hematocrit values, red blood-cell counts, hemoglobin content, in the osmotic-fragility of red blood cells, in plasma glucose concentration, in glucose consumption in blood, or in body weight and exhibit no chronic hemolysis under normal conditions




Genotype
MGI:6103875
cx3
Allelic
Composition		 G6pdxa-m1Neu/Y
Tg(Myh6-CRYAB*R120G)7302Ijb/0
Genetic
Background		 involves: 102/El * C3H/El * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
G6pdxa-m1Neu mutation (2 available); any G6pdx mutation (8 available)
Tg(Myh6-CRYAB*R120G)7302Ijb mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
cardiovascular system phenotype ( J:126781 )
N
• mice do not exhibit cardiac hypertrophy, show normal glucose-6-phosphate dehydrogenase enzyme activity in the heart and cardiomyocyte survival, and no protein aggregation in the heart

homeostasis/metabolism
increased glutathione level ( J:126781 )
• reduced glutathione content in the heart is increased by 14%




Genotype
MGI:3628913
ot4
Allelic
Composition		 G6pdxa-m1Neu/Y
Genetic
Background		 involves: 102/El * C3H/El * T-stock
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
G6pdxa-m1Neu mutation (2 available); any G6pdx mutation (8 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
decreased angiogenesis ( J:85179 )
• aortic vessel outgrowth from explanted thoracic aortas is decreased compared to wild-type
• in an in vivo Matrigel angiogenesis assay, endothelial cell migration into plugs is significantly inhibited compared to wild-type
abnormal response to cardiac infarction ( J:102347 )
• exhibit increased susceptibility to ischemia-reperfusion injury; on reperfusion, cardiac relaxation and contractile performance are impaired as shown by elevated end-diastolic pressures and decreased percent recovery of developed pressure relative to wild type
• with ischemia-reperfusion, hearts exhibit increased susceptibility to cellular thiol depletion and redox imbalance relative to wild-type

cellular
abnormal redox activity ( J:95754 )
• induction of sepsis results in an elevation of plasma glutathione levels, indicating greater sepsis-induced oxidative stress than in wild-type

hematopoietic system
hematopoietic system phenotype ( J:13991 , J:58685 )
N
(J:13991)
• although hemizygotes only have 15% G6pdx remaining activity in the blood, observe no differences in hematocrit values, red blood-cell counts, hemoglobin content, in the osmotic-fragility of red blood cells, in plasma glucose concentration, in glucose consumption in blood, or in body weight and exhibit no chronic hemolysis under normal conditions (J:58685)
anemia ( J:95754 )
• induction of sepsis results in hemolysis and anemia that is not observed in wild-type
abnormal erythrocyte morphology ( J:95754 )
• erythrocyte deformability is decreased in younger erythrocyte subpopulations from septic mutants compared with wild-type
decreased erythrocyte cell number ( J:95754 )
• induction of sepsis results in a decrease in red blood cell counts compared to wild-type
abnormal hemoglobin content ( J:95754 )
• induction of sepsis results in a decrease in blood hemoglobin content and an increase in plasma hemoglobin content compared to septic wild-type mice
decreased mean corpuscular hemoglobin ( J:95754 )
• mean corpuscular hemoglobin content is decreased in younger erythrocyte subpopulations from septic mutants compared with wild-type
abnormal erythrocyte physiology ( J:95754 )
• exhibit worse erythrocyte dysfunction during sepsis than wild-type, with increased erythrocyte rigidity and tendency for hemolysis

homeostasis/metabolism
abnormal response to cardiac infarction ( J:102347 )
• exhibit increased susceptibility to ischemia-reperfusion injury; on reperfusion, cardiac relaxation and contractile performance are impaired as shown by elevated end-diastolic pressures and decreased percent recovery of developed pressure relative to wild type
• with ischemia-reperfusion, hearts exhibit increased susceptibility to cellular thiol depletion and redox imbalance relative to wild-type

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
favism DOID:13628 J:58685 , J:85179 , J:95754




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory