About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:5446806
Allelic
Composition
Bcs1ltm1.1Levp/Bcs1ltm1.1Levp
Genetic
Background
involves: 129 * 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bcs1ltm1.1Levp mutation (0 available); any Bcs1l mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mice die between P29 and P70 (J:189584)
• however, mice only growth restriction survive to P70-165 (J:189584)
• most mice die between P29 and P70 (J:189584)
• however, mice only growth restriction survive to P70-165 (J:189584)

reproductive system
• decreased in numbers and size (J:189584)
• decreased in numbers and size (J:189584)

growth/size/body
• at P31-38 (J:189584)
• at P31-38 (J:189584)
• from P21-P25 (J:189584)
• from P21-P25 (J:189584)
• with the appearance of disease symptoms (J:189584)
• with the appearance of disease symptoms (J:189584)

liver/biliary system
• at P24, mice exhibit periportal degeneration of hepatocytes with compensatory regeneration unlike in wild-type mice (J:189584)
• P30 and older symptomatic mice exhibit fibrotic fibers and nodular hepatic structures unlike wild-type mice (J:189584)
• hepatic mitochondria from P30 mice are enlarged and less electron-dense compared to in wild-type mice (J:189584)
• at P24, mice exhibit periportal degeneration of hepatocytes with compensatory regeneration unlike in wild-type mice (J:189584)
• P30 and older symptomatic mice exhibit fibrotic fibers and nodular hepatic structures unlike wild-type mice (J:189584)
• hepatic mitochondria from P30 mice are enlarged and less electron-dense compared to in wild-type mice (J:189584)
• symptomatic mice exhibit increased grade 1 iron positivity in the liver compared with wild-type mice (J:189584)
• symptomatic mice exhibit increased grade 1 iron positivity in the liver compared with wild-type mice (J:189584)
• at P31-38 (J:189584)
• at P31-38 (J:189584)
• microvesicular lipid droplets (J:189584)
• microvesicular lipid droplets (J:189584)
• in symptomatic mice older than P30 (J:189584)
• in symptomatic mice older than P30 (J:189584)

cellular
• hepatic mitochondria from P30 mice are enlarged and less electron-dense compared to in wild-type mice (J:189584)
• hepatic mitochondria from P30 mice are enlarged and less electron-dense compared to in wild-type mice (J:189584)
• impaired mitochondrial respiration in the liver during high oxygen consumptionimpaired mitochondrial respiration in the liver during high oxygen consumption (J:189584)
• impaired mitochondrial respiration in the liver during high oxygen consumptionimpaired mitochondrial respiration in the liver during high oxygen consumption (J:189584)
• impaired mitochondrial respiration in the liver during high oxygen consumption (J:189584)
• impaired mitochondrial respiration in the liver during high oxygen consumption (J:189584)

renal/urinary system
• smaller, reduced in number and contain tubular exudate indicating tubulopathy (J:189584)
• smaller, reduced in number and contain tubular exudate indicating tubulopathy (J:189584)

behavior/neurological
• at terminal stage (J:189584)
• at terminal stage (J:189584)
• inactive at terminal stage (J:189584)
• inactive at terminal stage (J:189584)

homeostasis/metabolism
• mice exhibit elevated blood lactate concentration compared with wild-type mice (J:189584)
• mice exhibit elevated blood lactate concentration compared with wild-type mice (J:189584)
• symptomatic mice exhibit increased grade 1 iron positivity in the liver compared with wild-type mice (J:189584)
• symptomatic mice exhibit increased grade 1 iron positivity in the liver compared with wild-type mice (J:189584)

endocrine/exocrine glands
• decreased in numbers and size (J:189584)
• decreased in numbers and size (J:189584)

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/02/2016
MGI 6.02
The Jackson Laboratory