Phenotypes Associated with This Genotype

Genotype
MGI:5446806

• Allelic Composition: Bcs1l^tm1.1Levp/Bcs1l^tm1.1Levp
• Genetic Background: involves: 129 * 129S6/SvEvTac * C57BL/6

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

mortality/aging

premature death ( J:189652 )

• most mice die between P29 and P70

• however, mice only growth restriction survive to P70-165

reproductive system

decreased Leydig cell number ( J:189652 )

• decreased in numbers and size

growth/size/body

decreased body weight ( J:189652 )

• relative body weight at P31-38 is 59% and 68% of littermate control males and females, respectively

slow postnatal weight gain ( J:189652 )

• from P21-P25

weight loss ( J:189652 )

• with the appearance of disease symptoms

liver/biliary system

abnormal liver morphology ( J:189652 )

• at P24, mice exhibit periportal degeneration of hepatocytes with compensatory regeneration unlike in wild-type mice

• P30 and older symptomatic mice exhibit fibrotic fibers and nodular hepatic structures unlike wild-type mice

• hepatic mitochondria from P30 mice are enlarged and less electron-dense compared to in wild-type mice

decreased liver glycogen level ( J:189652 )

increased liver iron level ( J:189652 )

• symptomatic mice exhibit increased grade 1 iron positivity in the liver compared with wild-type mice

small liver ( J:189652 )

• at P31-38

microvesicular hepatic steatosis ( J:189652 )

• microvesicular lipid droplets

liver fibrosis ( J:189652 )

• in symptomatic mice older than P30

cellular

increased mitochondrial size ( J:189652 )

• hepatic mitochondria from P30 mice are enlarged and less electron-dense compared to in wild-type mice

abnormal cellular respiration ( J:189652 )

• impaired mitochondrial respiration in the liver during high oxygen consumption

abnormal mitochondrial physiology ( J:189652 )

• impaired mitochondrial respiration in the liver during high oxygen consumption

renal/urinary system

abnormal proximal convoluted tubule morphology ( J:189652 )

• smaller, reduced in number and contain tubular exudate indicating tubulopathy

behavior/neurological

hunched posture ( J:189652 )

• at terminal stage

decreased locomotor activity ( J:189652 )

• inactive at terminal stage

homeostasis/metabolism

increased circulating lactate level ( J:189652 )

• mice exhibit elevated blood lactate concentration compared with wild-type mice

decreased liver glycogen level ( J:189652 )

increased liver iron level ( J:189652 )

• symptomatic mice exhibit increased grade 1 iron positivity in the liver compared with wild-type mice

endocrine/exocrine glands

decreased Leydig cell number ( J:189652 )

• decreased in numbers and size

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
GRACILE syndrome		DOID:0111455	OMIM:603358	J:189652