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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Slc19a2tm1Gelb
targeted mutation 1, Bruce D Gelb
MGI:2429761
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Slc19a2tm1Gelb/Slc19a2tm1Gelb involves: 129X1/SvJ MGI:3033364


Genotype
MGI:3033364
hm1
Allelic
Composition
Slc19a2tm1Gelb/Slc19a2tm1Gelb
Genetic
Background
involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc19a2tm1Gelb mutation (1 available); any Slc19a2 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• life span is normal on a normal diet (J:79974)
• death occurs after 3-4 weeks on a thiamin deficient diet (J:79974)
• life span is normal on a normal diet (J:79974)
• death occurs after 3-4 weeks on a thiamin deficient diet (J:79974)

behavior/neurological
• after 4-5 weeks on a normal diet (J:79974)
• after about 17 days on a thiamin deficient diet (J:79974)
• after 4-5 weeks on a normal diet (J:79974)
• after about 17 days on a thiamin deficient diet (J:79974)

reproductive system
• half normal weight (J:87410)
• many apoptotic cells in the tubules (J:87410)
• half normal weight (J:87410)
• many apoptotic cells in the tubules (J:87410)
• completely disrupted (J:87410)
• completely disrupted (J:87410)
• no sperm in the epididymis at 12 weeks of age (J:87410)
• no sperm in the epididymis at 12 weeks of age (J:87410)
• absent (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)
• 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)
• 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 (J:79974)
• hearing loss on a thiamin deficient diet (J:79974)
• recovery from hearing loss after restoration of thiamin to the diet in 2 out of 3 mice (J:79974)
• normal auditory-evoked brainstem response on a normal diet (J:79974)
• hearing loss on a thiamin deficient diet (J:79974)
• recovery from hearing loss after restoration of thiamin to the diet in 2 out of 3 mice (J:79974)

hematopoietic system
• dysplastic hematopoiesis and reversed myeloid to erythroid ratio (J:79974)
• dysplastic hematopoiesis and reversed myeloid to erythroid ratio (J:79974)
• dyssynchrony of nuclear and cytoplasmic maturation (J:79974)
• increase in early erythroid precursors and oversized cells at all stages (J:79974)
• increase in early erythroid precursors and oversized cells at all stages (J:79974)
• dyssynchrony of nuclear and cytoplasmic maturation (J:79974)
• larger cells (J:79974)
• increased lobulation of megakaryocyte nuclei (J:79974)
• larger cells (J:79974)
• increased lobulation of megakaryocyte nuclei (J:79974)

homeostasis/metabolism
• impaired insulin secretion with thiamin deficiency (J:79974)
• impaired insulin secretion with thiamin deficiency (J:79974)
• after 17 days without dietary thiamin, glucose intolerant as determined in a glucose tolerance test (J:79974)
• blood glucose still elevated 120 min into test (J:79974)
• glucose intolerance is resolved 6 weeks after reintroduction of thiamin to diet (J:79974)
• after 17 days without dietary thiamin, glucose intolerant as determined in a glucose tolerance test (J:79974)
• blood glucose still elevated 120 min into test (J:79974)
• glucose intolerance is resolved 6 weeks after reintroduction of thiamin to diet (J:79974)
• prolonged hypoglycemic response in an insulin tolerance (J:79974)
• prolonged hypoglycemic response in an insulin tolerance (J:79974)

immune system
• larger cells (J:79974)
• increased lobulation of megakaryocyte nuclei (J:79974)
• larger cells (J:79974)
• increased lobulation of megakaryocyte nuclei (J:79974)

endocrine/exocrine glands
• half normal weight (J:87410)
• many apoptotic cells in the tubules (J:87410)
• half normal weight (J:87410)
• many apoptotic cells in the tubules (J:87410)

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

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





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory