Phenotypes associated with this allele

• Allele Symbol: Gulo^tm1Mae
• Allele Name: targeted mutation 1, Nobuyo Maeda
• Allele ID: MGI:2158350
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gulo^tm1Mae/Gulo^tm1Mae	involves: 129 * C57BL/6	MGI:3583115
hm2	Gulo^tm1Mae/Gulo^tm1Mae	involves: C57BL/6	MGI:5008185

Genotype
MGI:3583115

hm1

• Allelic Composition: Gulo^tm1Mae/Gulo^tm1Mae
• Genetic Background: involves: 129 * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Abnormalities in the aorta of Gulo^tm1Mae/Gulo^tm1Mae mice

skeleton

hemarthrosis ( J:59931 )

mortality/aging

premature death ( J:59931 )

• adult mice die 5 weeks after of withdrawal of viatmin C supplementation

growth/size/body

weight loss ( J:59931 )

• withdrawal of viatmin C supplementation in adult mice results in weight loss and death

• after 5 weeks of viatmin C withdrawal, mice lost 30% of body weight

postnatal growth retardation ( J:59931 )

• after weaning on to standard chow, animals did not thrive; animals lost weight and grew very little

• these effects were reversed by dietary supplementation of vitamin C in the drinking water

hematopoietic system

anemia ( J:59931 )

• observed after 5 weeks of withdrawal of viatmin C supplementation

decreased erythrocyte cell number ( J:59931 )

• observed after 5 weeks of withdrawal of viatmin C supplementation in adult mice

decreased hematocrit ( J:59931 )

• observed after 5 weeks of withdrawal of viatmin C supplementation in adult mice

decreased mean corpuscular hemoglobin ( J:59931 )

• observed after 5 weeks of withdrawal of viatmin C supplementation in adult mice

cardiovascular system

abnormal aorta endothelium morphology ( J:59931 )

• in the aortic arches, focal areas of endothelial cell patterning was absent

• endothelial cells in areas of elastic laminae disruption were attenuated due to accumulation of extracellular material and/or smooth muscle cells

abnormal aorta elastic tissue morphology ( J:59931 )

• prominent breaks and fragmentation of the elastic laminae were observed

abnormal aorta smooth muscle morphology ( J:59931 )

• smooth muscle cells of the aorta exhibited a range of abnormalities

hemorrhage ( J:59931 )

• hemorrhages were often seen in the knee joints and the dorsal margin of the scapula

gastrointestinal hemorrhage ( J:59931 )

• petechia was sometimes seen in the intestinal mucosa

hemarthrosis ( J:59931 )

increased vascular permeability ( J:59931 )

• the endothelial lesions and elastic fiber defects result in changes in endothelial permeability that result in leakage of macromolecules

homeostasis/metabolism

decreased circulating HDL cholesterol level ( J:59931 )

increased circulating cholesterol level ( J:59931 )

• significantly increased in plasma in males, and a trend towards and increase in females

abnormal vitamin C level ( J:59931 )

• reduced levels of ascorbic acid were observed in plasma, liver and brain of mutant mice on standard chow

• plasma levels are increased to 60% of controls when supplemented with dietary ascorbic acid

• plasma levels in males is significantly lower than in females; control mice do not exhibit sexually dimorphic differences

• plasma antioxidative capacity is lower than in control mice

digestive/alimentary system

gastrointestinal hemorrhage ( J:59931 )

• petechia was sometimes seen in the intestinal mucosa

muscle

abnormal aorta smooth muscle morphology ( J:59931 )

• smooth muscle cells of the aorta exhibited a range of abnormalities

Genotype
MGI:5008185

hm2

• Allelic Composition: Gulo^tm1Mae/Gulo^tm1Mae
• Genetic Background: involves: C57BL/6

"Rachitic rosary" phenotype of Gulo^tm1Mae/Gulo^tm1Mae and Akr1b1^tm1.1Kgab/Akr1b1^tm1.1Kgab Akr1a1^{Gt(OST222400)Lex}/Akr1a1^{Gt(OST222400)Lex} bones

homeostasis/metabolism

abnormal vitamin C level ( J:164548 )

• male mice exhibit a decrease in liver and kidney ascorbate levels compared with wild-type mice

skeleton

rachitic rosary ( J:164548 )

• newborn mice exhibit rapid onset of scurvy with ball-like swellings at the costochondral junction of the ribs resulting from hemorrhage and callus formation due to profound ascorbate deficiency

mortality/aging

premature death ( J:164548 )

• mice die at 8 to 10 weeks of age