Phenotypes Associated with This Genotype

Genotype
MGI:3623584

• Allelic Composition: Gk^tm1Wjc/Y
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

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

renal/urinary system

increased urine glycerol level ( J:43449 )

♂ • elevated glyceroluria

mortality/aging

postnatal lethality, complete penetrance ( J:43449 , J:100255 )

♂ • death at day 3 or 4 of age (J:43449)

♂ • life extending to 8.5 days when treated after birth with adenovirus delivered mouse but not human glycerol kinase (J:100255)

growth/size/body

postnatal growth retardation ( J:43449 )

♂ • growth retardation by 2 days of age

behavior/neurological

abnormal suckling behavior ( J:43449 , J:100255 )

♂ • normal suckling through day 2 of age (J:43449)

♂ • reduced milk ingestion at 3 days of age (J:100255)

decreased locomotor activity ( J:100255 )

♂ • reduced activity levels by 3 days of age

homeostasis/metabolism

hypoglycemia ( J:43449 , J:100255 )

♂ • blood glucose levels normal before 3 days (J:43449)

♂ • hypoglycemic at 3 days of age (J:100255)

increased circulating glycerol level ( J:43449 )

♂ • hyperglycerolemia

increased fatty acids level ( J:43449 )

♂ • 3 fold increase in plasma free fatty acid levels

♂ • elevated long chain fatty acids in urine

increased urine glycerol level ( J:43449 )

♂ • elevated glyceroluria

liver/biliary system

hepatic steatosis ( J:43449 )

♂ • mild fatty infiltration of the liver at 3 days of age

endocrine/exocrine glands

abnormal pituitary secretion ( J:43449 )

♂ • somewhat reduced or normal ACTH levels

nervous system

abnormal pituitary secretion ( J:43449 )

♂ • somewhat reduced or normal ACTH levels

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glycerol kinase deficiency		DOID:0060363	OMIM:307030	J:43449 , J:100255