Phenotypes Associated with This Genotype

Genotype
MGI:6162677

• Allelic Composition: Slc19a3^tm1Said/Slc19a3^tm1Said
• Genetic Background: involves: C57BL/6J

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

mortality/aging

premature death ( J:246593 )

• 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

astrocytosis ( J:246593 )

• astrocyte activation is increased in the bilateral thalamic area of mice fed with a thiamine-restricted diet for 12 days

decreased neuron number ( J:246593 )

• 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

neurodegeneration ( J:246593 )

• 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

abnormal locomotor behavior ( J:246593 )

• mice fed a thiamine-restricted diet exhibit immobility

paralysis ( J:246593 )

• mice fed a thiamine-restricted diet exhibit paralysis

homeostasis/metabolism

abnormal thiamin level ( J:246593 )

• 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