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Phenotypes Associated with This Genotype
Genotype
MGI:6162677
Allelic
Composition
Slc19a3tm1Said/Slc19a3tm1Said
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc19a3tm1Said mutation (1 available); any Slc19a3 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice fed a thiamine-restricted diet (0.60 mg thiamine/100 g food) die within 12 days of starting the diet
• mice fed a thiamine-restricted diet with an even lower percentage of thiamine (0.27 mg thiamine/100 g food) die within 14 days
• mice fed a conventional diet containing 1.71 mg thiamine/100 g of food survive for over 6 months without any disease phenotype
• mice that are returned to a conventional diet after 2 or 3 days on a thiamine-restricted diet, die within the next 24 days
• 4 of 7 mice that are returned to a conventional diet after 1 day on a thiamine-restricted diet recover and survive
• most mice that are returned to a high-thiamine diet (8.5 mg thiamine/100 g food) after 2, 3, and 5 days of a thiamine-restricted diet are rescued and survive

nervous system
• astrocyte activation is increased in the bilateral thalamic area of mice fed with a thiamine-restricted diet for 12 days
• after 5 days of a thiamine-restricted diet, the number of NeuN+ neurons in the submedial nucleus of the thalamus and ventral anterior-lateral complex of the thalamus is decreased to approximately 50%
• after 12 days of a thiamine-restricted diet, the numbers of NeuN+ neurons are decreased over a wide area of the thalamus, including the submedial nucleus of the thalamus
• the number of degenerating neurons in the submedial nucleus of the thalamus, ventral anterior-lateral complex of the thalamus and cortex is increased in mice fed a thiamine-restricted diet
• the brains of surviving mice on a high-thiamine diet after 2 days of thiamine restriction show a slight decrease in NeuN+ neurons, no significant astrocyte activation in the thalamus or acute neurodegeneration

behavior/neurological
• mice fed a thiamine-restricted diet exhibit immobility
• mice fed a thiamine-restricted diet exhibit paralysis

homeostasis/metabolism
• thiamine levels in the blood of mice fed a conventional diet are deceased at 7 weeks of age
• thiamine levels in the blood of mice fed a thiamine-restricted diet are decreased
• thiamine concentration in the brain decreases steadily in mice fed a thiamine-restricted diet before mice present disease phenotypes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
biotin-responsive basal ganglia disease DOID:0050659 OMIM:607483
J:246593


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last database update
03/19/2019
MGI 6.13
The Jackson Laboratory