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Phenotypes Associated with This Genotype
involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc19a2tm1Gelb mutation (1 available); any Slc19a2 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• life span is normal on a normal diet
• death occurs after 3-4 weeks on a thiamin deficient diet

• no sperm in the epididymis at 12 weeks of age

• after 4-5 weeks on a normal diet
• after about 17 days on a thiamin deficient diet

reproductive system
• half normal weight
• many apoptotic cells in the tubules
• completely disrupted
• no sperm in the epididymis at 12 weeks of age
• no metaphase I or metaphase II germ cells seen
• severely reduced number of mid pachytene spermatocytes
• on a thiamin deficient diet, spermatocyte loss occurred at an even earlier stage
• on any diet
• male fertility was totally restored by a minimum of 20 days on a high thiamin diet

• normal auditory-evoked brainstem response on a normal diet
• hearing loss on a thiamin deficient diet
• recovery from hearing loss after restoration of thiamin to the diet in 2 out of 3 mice

hematopoietic system
• dysplastic hematopoiesis and reversed myeloid to erythroid ratio
• dyssynchrony of nuclear and cytoplasmic maturation
• increase in early erythroid precursors and oversized cells at all stages
• larger cells
• increased lobulation of megakaryocyte nuclei

• impaired insulin secretion with thiamin deficiency
• after 17 days without dietary thiamin, glucose intolerant as determined in a glucose tolerance test
• blood glucose still elevated 120 min into test
• glucose intolerance is resolved 6 weeks after reintroduction of thiamin to diet
• prolonged hypoglycemic response in an insulin tolerance

immune system
• larger cells
• increased lobulation of megakaryocyte nuclei

endocrine/exocrine glands
• half normal weight
• many apoptotic cells in the tubules

digestive/alimentary system
• thiamin uptake is normal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
thiamine-responsive megaloblastic anemia syndrome DOID:0090117 OMIM:249270

Contributing Projects:
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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last database update
MGI 6.22
The Jackson Laboratory