Mouse Genome Informatics
hm1
    Slc19a2tm1Gelb/Slc19a2tm1Gelb
involves: 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• life span is normal on a normal diet
• death occurs after 3-4 weeks on a thiamin deficient diet

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

reproductive system
• half normal weight (J:87410)
• many apoptotic cells in the tubules (J:87410)
• completely disrupted (J:87410)
• no sperm in the epididymis at 12 weeks of age (J:87410)
• absent (J:87410)
• no metaphase I or metaphase II germ cells seen (J:87410)
• severely reduced number of mid pachytene spermatocytes (J:87410)
• on a thiamin deficient diet, spermatocyte loss occurred at an even earlier stage (J:87410)
• on any diet (J:87410)
• male fertility was totally restored by a minimum of 20 days on a high thiamin diet (J:87410)

hearing/vestibular/ear
• 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

homeostasis/metabolism
• 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 (J:87410)
• many apoptotic cells in the tubules (J:87410)

digestive/alimentary system
N
• thiamin uptake is normal (J:170952)

Mouse Models of Human Disease
OMIM IDRef(s)
Thiamine-Responsive Megaloblastic Anemia Syndrome; TRMA 249270 J:79974