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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Slc37a4tm1Jyc
targeted mutation 1, Janice Yang Chou
MGI:3046091
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Slc37a4tm1Jyc/Slc37a4tm1Jyc involves: 129S4/SvJae * C57BL/6 MGI:3046092


Genotype
MGI:3046092
hm1
Allelic
Composition
Slc37a4tm1Jyc/Slc37a4tm1Jyc
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc37a4tm1Jyc mutation (0 available); any Slc37a4 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• if glucose therapy is started within 24 hours of birth, 77% of mice survive weaning (J:86005)
• if glucose therapy is started within 24 hours of birth, 77% of mice survive weaning (J:86005)

behavior/neurological
• mice that did undergo glucose therapy exhibited seizures due to hypoglycemia (J:86005)
• mice that did undergo glucose therapy exhibited seizures due to hypoglycemia (J:86005)

growth/size/body
• largest disparity of weight between homozygotes and contols was observed around weaning (22 to 24 days of age) (J:86005)
• mice were 60% the weight of wild-type at 60 days of age (J:86005)
• largest disparity of weight between homozygotes and contols was observed around weaning (22 to 24 days of age) (J:86005)
• mice were 60% the weight of wild-type at 60 days of age (J:86005)

hematopoietic system
• increased number of myeloid colony forming progenitor cells (J:86005)
• increased number of myeloid colony forming progenitor cells (J:86005)
• during the first 3 postnatal weeks (J:86005)
• by 6 weeks of age, the average number of neutrophils reached 95% that observed in wild-type, though 2 of 11 mice still exhibited neutropenia (J:86005)
• during the first 3 postnatal weeks (J:86005)
• by 6 weeks of age, the average number of neutrophils reached 95% that observed in wild-type, though 2 of 11 mice still exhibited neutropenia (J:86005)
• delayed increase in peripheral blood lymphocyte counts during postnatal development (J:86005)
• delayed increase in peripheral blood lymphocyte counts during postnatal development (J:86005)
• white pulp is not evident at all until 2 weeks of age and still not well formed at 6 weeks of age (J:86005)
• white pulp is not evident at all until 2 weeks of age and still not well formed at 6 weeks of age (J:86005)
• impaired respiratory burst activity (J:86005)
• impaired calcium flux response (J:86005)
• impaired respiratory burst activity (J:86005)
• impaired calcium flux response (J:86005)
• impaired chemotaxis (J:86005)
• impaired chemotaxis (J:86005)

homeostasis/metabolism
• elevated circulating levels of uric acid and lactic acid relative to those of wild-type (J:86005)
• elevated circulating levels of uric acid and lactic acid relative to those of wild-type (J:86005)
• fasting hypoglycemia (J:86005)
• mice undergo hypoglycemic seizures unless treated with glucose (J:86005)
• fasting hypoglycemia (J:86005)
• mice undergo hypoglycemic seizures unless treated with glucose (J:86005)
• progressive glycogen accumulation in the liver and kidney (J:86005)
• first evident at 2 days of age (J:86005)
• progressive glycogen accumulation in the liver and kidney (J:86005)
• first evident at 2 days of age (J:86005)
• 5.4-fold higher than that of wild-type at 2 to 3 weeks of age (J:86005)
• 5.4-fold higher than that of wild-type at 2 to 3 weeks of age (J:86005)
• 22-fold higher than that of wild-type at 2 to 3 weeks of age (J:86005)
• 22-fold higher than that of wild-type at 2 to 3 weeks of age (J:86005)

immune system
• increased number of myeloid colony forming progenitor cells (J:86005)
• increased number of myeloid colony forming progenitor cells (J:86005)
• during the first 3 postnatal weeks (J:86005)
• by 6 weeks of age, the average number of neutrophils reached 95% that observed in wild-type, though 2 of 11 mice still exhibited neutropenia (J:86005)
• during the first 3 postnatal weeks (J:86005)
• by 6 weeks of age, the average number of neutrophils reached 95% that observed in wild-type, though 2 of 11 mice still exhibited neutropenia (J:86005)
• delayed increase in peripheral blood lymphocyte counts during postnatal development (J:86005)
• delayed increase in peripheral blood lymphocyte counts during postnatal development (J:86005)
• white pulp is not evident at all until 2 weeks of age and still not well formed at 6 weeks of age (J:86005)
• white pulp is not evident at all until 2 weeks of age and still not well formed at 6 weeks of age (J:86005)
• impaired respiratory burst activity (J:86005)
• impaired calcium flux response (J:86005)
• impaired respiratory burst activity (J:86005)
• impaired calcium flux response (J:86005)
• impaired chemotaxis (J:86005)
• impaired chemotaxis (J:86005)
• depressed local production of chemokines and neutrophil trafficking (J:86005)
• depressed local production of chemokines and neutrophil trafficking (J:86005)

liver/biliary system
• glycogen accumulation in hepatocytes (J:86005)
• the liver had uniform mosaic architecture with compression of the sinusoids, similar to that seen in patients with glycogen storage disease Ib (J:86005)
• glycogen accumulation in hepatocytes (J:86005)
• the liver had uniform mosaic architecture with compression of the sinusoids, similar to that seen in patients with glycogen storage disease Ib (J:86005)

renal/urinary system
• glycogen accumulation in the kidney resulted in enlargement and compression of the glomeruli (J:86005)
• glycogen accumulation in the kidney resulted in enlargement and compression of the glomeruli (J:86005)

skeleton
• reduced in size relative to that of wild-type (J:86005)
• reduced in size relative to that of wild-type (J:86005)
• reduced in size relative to that of wild-type (J:86005)
• reduced in size relative to that of wild-type (J:86005)
• reduced in size relative to that of wild-type (J:86005)
• reduced in size relative to that of wild-type (J:86005)
• narrowed medullary cavities of the femoral and tibia bones evident during the first 3 weeks of life (J:86005)
• the medullary cavities were similar to those of wild-type by 6 weeks of age when the blood leukocyte counts were closer to normal (J:86005)
• narrowed medullary cavities of the femoral and tibia bones evident during the first 3 weeks of life (J:86005)
• the medullary cavities were similar to those of wild-type by 6 weeks of age when the blood leukocyte counts were closer to normal (J:86005)

nervous system
• mice that did undergo glucose therapy exhibited seizures due to hypoglycemia (J:86005)
• mice that did undergo glucose therapy exhibited seizures due to hypoglycemia (J:86005)

cellular
• impaired chemotaxis (J:86005)
• impaired chemotaxis (J:86005)

Mouse Models of Human Disease
OMIM ID Ref(s)
Glycogen Storage Disease IB; GSD1B 232220 J:86005





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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory