Phenotypes Associated with This Genotype

Genotype
MGI:3618628

• Allelic Composition: Smarcb1^tm1Mya/Smarcb1^tm2Mya; Tg(Alb1-cre)7Gsc/0
• Genetic Background: involves: 129S2/SvPas * FVB/N

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

mortality/aging

neonatal lethality, complete penetrance ( J:103919 )

• mutants die within 12 hours of birth

homeostasis/metabolism

hypoglycemia ( J:103919 )

• blood glucose is less than 10 mg/dl shortly after birth compared to 58 mg/dl in controls; however mutants are able to feed as milk is found in the digestive tract

impaired gluconeogenesis ( J:103919 )

• total glucose production in the liver is reduced about 3-fold with gluconeogenesis reduced about 2-fold

decreased glycogen catabolism rate ( J:103919 )

• total glucose production in the liver is reduced about 3-fold with glycogenolysis reduced about 3-fold

decreased liver glycogen level ( J:103919 )

• at E17.5, E18.5, and P0, glycogen levels in the liver are severely reduced

liver/biliary system

increased hepatocyte proliferation ( J:103919 )

• proliferation in parenchymal cells is increased 1.6-fold and 4- to 5-fold at E17.5 and E18.5, respectively and a 40% increase in parenchymal cells is seen

decreased liver glycogen level ( J:103919 )

• at E17.5, E18.5, and P0, glycogen levels in the liver are severely reduced

abnormal hepatocyte morphology ( J:103919 )

• the cytoplasm contains fewer organelles and mitochondria suggesting a defect in terminal hepatocyte differentiation

dissociated hepatocytes ( J:103919 )

• intermembrane spaces are enlarged and cell-cell junctions are disrupted

cellular

increased hepatocyte proliferation ( J:103919 )

• proliferation in parenchymal cells is increased 1.6-fold and 4- to 5-fold at E17.5 and E18.5, respectively and a 40% increase in parenchymal cells is seen