Phenotypes associated with this allele

• Allele Symbol: Slc37a4^tm1Jyc
• Allele Name: targeted mutation 1, Janice Yang Chou
• Allele ID: MGI:3046091
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc37a4^tm1Jyc/Slc37a4^tm1Jyc	involves: 129S4/SvJae * C57BL/6	MGI:3046092

Genotype
MGI:3046092

hm1

• Allelic Composition: Slc37a4^tm1Jyc/Slc37a4^tm1Jyc
• Genetic Background: involves: 129S4/SvJae * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

postnatal lethality ( J:86005 )

• if glucose therapy is started within 24 hours of birth, 77% of mice survive weaning

behavior/neurological

seizures ( J:86005 )

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

growth/size/body

decreased body weight ( J:86005 )

• 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

postnatal growth retardation ( J:86005 )

enlarged kidney ( J:86005 )

• glycogen accumulation in the kidney resulted in enlargement and compression of the glomeruli

enlarged liver ( J:86005 )

• 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

hematopoietic system

abnormal myelopoiesis ( J:86005 )

• increased number of myeloid colony forming progenitor cells

abnormal bone marrow cell morphology/development ( J:86005 )

decreased bone marrow cell number ( J:86005 )

decreased neutrophil cell number ( J:86005 )

• 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

decreased lymphocyte cell number ( J:86005 )

• delayed increase in peripheral blood lymphocyte counts during postnatal development

abnormal spleen morphology ( J:86005 )

small spleen ( J:86005 )

absent spleen white pulp ( J:86005 )

• white pulp is not evident at all until 2 weeks of age and still not well formed at 6 weeks of age

abnormal neutrophil physiology ( J:86005 )

• impaired respiratory burst activity

• impaired calcium flux response

impaired neutrophil chemotaxis ( J:86005 )

• impaired chemotaxis

homeostasis/metabolism

abnormal homeostasis ( J:86005 )

• elevated circulating levels of uric acid and lactic acid relative to those of wild-type

abnormal glucose homeostasis ( J:86005 )

hypoglycemia ( J:86005 )

• fasting hypoglycemia

• mice undergo hypoglycemic seizures unless treated with glucose

increased kidney glycogen level ( J:86005 )

• progressive glycogen accumulation in the kidney, first evident at 2 days of age

increased liver glycogen level ( J:86005 )

• progressive glycogen accumulation in the liver, first evident at 2 days of age

abnormal lipid homeostasis ( J:86005 )

increased circulating cholesterol level ( J:86005 )

• 5.4-fold higher than that of wild-type at 2 to 3 weeks of age

increased circulating triglyceride level ( J:86005 )

• 22-fold higher than that of wild-type at 2 to 3 weeks of age

hyperlipidemia ( J:86005 )

immune system

abnormal myelopoiesis ( J:86005 )

• increased number of myeloid colony forming progenitor cells

decreased neutrophil cell number ( J:86005 )

• 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

decreased lymphocyte cell number ( J:86005 )

• delayed increase in peripheral blood lymphocyte counts during postnatal development

abnormal spleen morphology ( J:86005 )

small spleen ( J:86005 )

absent spleen white pulp ( J:86005 )

• white pulp is not evident at all until 2 weeks of age and still not well formed at 6 weeks of age

abnormal neutrophil physiology ( J:86005 )

• impaired respiratory burst activity

• impaired calcium flux response

impaired neutrophil chemotaxis ( J:86005 )

• impaired chemotaxis

abnormal chemokine secretion ( J:86005 )

• depressed local production of chemokines and neutrophil trafficking

abnormal inflammatory response ( J:86005 )

decreased inflammatory response ( J:86005 )

liver/biliary system

enlarged liver ( J:86005 )

• 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

increased liver glycogen level ( J:86005 )

• progressive glycogen accumulation in the liver, first evident at 2 days of age

renal/urinary system

enlarged kidney ( J:86005 )

• glycogen accumulation in the kidney resulted in enlargement and compression of the glomeruli

increased kidney glycogen level ( J:86005 )

• progressive glycogen accumulation in the kidney, first evident at 2 days of age

skeleton

decreased long bone epiphyseal plate size ( J:86005 )

• reduced in size relative to that of wild-type

abnormal long bone epiphysis morphology ( J:86005 )

• reduced in size relative to that of wild-type

abnormal long bone metaphysis morphology ( J:86005 )

• reduced in size relative to that of wild-type

abnormal bone marrow cavity morphology ( J:86005 )

• 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

seizures ( J:86005 )

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

cellular

impaired neutrophil chemotaxis ( J:86005 )

• impaired chemotaxis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glycogen storage disease Ia		DOID:2749	OMIM:232200	J:86005