Phenotypes associated with this allele

• Allele Symbol: Gramd1b^em1Pton
• Allele Name: endonuclease-mediated mutation 1, Peter Tontonoz
• Allele ID: MGI:6356548
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gramd1b^em1Pton/Gramd1b^em1Pton	involves: C57BL/6N	MGI:6363054

Genotype
MGI:6363054

hm1

• Allelic Composition: Gramd1b^em1Pton/Gramd1b^em1Pton
• Genetic Background: involves: C57BL/6N

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

endocrine/exocrine glands

abnormal adrenal gland morphology ( J:266462 )

• at 6 weeks of age, adrenal glands appear red, suggesting an absence of cholesterol ester stores

abnormal adrenal cortex morphology ( J:266462 )

• Oil red O staining showed loss of neutral lipid stores in the adrenal cortex

abnormal adrenal gland zona fasciculata morphology ( J:266462 )

• EM revealed a complete absence of cytosolic lipid droplets in adrenal fasciculata cells

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:266462 )

N • serum levels of epinephrine and dopamine (non-steroid mediators made by the adrenal medulla) are normal

decreased circulating corticosterone level ( J:266462 )

• mice fed ad lib show lower basal serum corticosterone levels than wild-type controls

• after a 16-hr fast, serum corticosterone levels are significantly lower than those in wild-type controls

abnormal cholesterol homeostasis ( J:266462 )

• mice show impaired transport of HDL-derived cholesterol from the plasma membrane to the endoplasmic reticulum (ER) in adrenal glands

• levels of free cholesterol in adrenal glands are normal

• serum cholesterol levels after a 5-hr fast are normal

• cholesterol ester species are severely depleted in adrenal glands

• adrenal SREBP-2 target gene expression is far higher than that in wild-type controls, indicating that the ER is starved for cholesterol

• adrenal glands show dramatically increased levels of mature SREBP-2 but normal levels of the membrane-bound precursor, indicating induction of SREBP-2 processing