Mouse Genome Informatics
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    Bcs1ltm1.1Levp/Bcs1ltm1.1Levp
involves: 129 * 129S6/SvEvTac * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• most mice die between P29 and P70
• however, mice only growth restriction survive to P70-165

reproductive system
• decreased in numbers and size

growth/size/body
• at P31-38
• with the appearance of disease symptoms

liver/biliary system
• 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
• symptomatic mice exhibit increased grade 1 iron positivity in the liver compared with wild-type mice
• at P31-38
• microvesicular lipid droplets
• in symptomatic mice older than P30

cellular
• hepatic mitochondria from P30 mice are enlarged and less electron-dense compared to in wild-type mice
• impaired mitochondrial respiration in the liver during high oxygen consumptionimpaired mitochondrial respiration in the liver during high oxygen consumption
• impaired mitochondrial respiration in the liver during high oxygen consumption

renal/urinary system
• smaller, reduced in number and contain tubular exudate indicating tubulopathy

behavior/neurological
• at terminal stage
• inactive at terminal stage

homeostasis/metabolism
• mice exhibit elevated blood lactate concentration compared with wild-type mice
• symptomatic mice exhibit increased grade 1 iron positivity in the liver compared with wild-type mice

endocrine/exocrine glands
• decreased in numbers and size

Mouse Models of Human Disease
OMIM IDRef(s)
Gracile Syndrome 603358 J:189584