Mouse Genome Informatics
hm1
    Slc37a4tm1Jyc/Slc37a4tm1Jyc
involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• if glucose therapy is started within 24 hours of birth, 77% of mice survive weaning

behavior/neurological
• mice that did undergo glucose therapy exhibited seizures due to hypoglycemia

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

hematopoietic system
• delayed increase in peripheral blood lymphocyte counts during postnatal development
• during the first 3 postnatal weeks
• 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
• increased number of myeloid colony forming progenitor cells
• white pulp is not evident at all until 2 weeks of age and still not well formed at 6 weeks of age
• impaired respiratory burst activity
• impaired calcium flux response
• impaired chemotaxis

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

immune system
• delayed increase in peripheral blood lymphocyte counts during postnatal development
• during the first 3 postnatal weeks
• 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
• increased number of myeloid colony forming progenitor cells
• white pulp is not evident at all until 2 weeks of age and still not well formed at 6 weeks of age
• impaired respiratory burst activity
• impaired calcium flux response
• impaired chemotaxis
• depressed local production of chemokines and neutrophil trafficking

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

renal/urinary system
• glycogen accumulation in the kidney resulted in enlargement and compression of the glomeruli

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

nervous system
• mice that did undergo glucose therapy exhibited seizures due to hypoglycemia

cellular
• impaired chemotaxis

Mouse Models of Human Disease
OMIM IDRef(s)
Glycogen Storage Disease IB 232220 J:86005