Phenotypes Associated with This Genotype

Genotype
MGI:5779855

• Allelic Composition: Gorasp1^{tm1a(KOMP)Catr}/Gorasp1^{tm1a(KOMP)Catr}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

cellular

cellular phenotype ( J:211288 )

N • unexpectedly, homozygotes are viable, fertile and developmentally normal with no detectable defects in tissue, cellular or subcellular organization relative to wild-type controls; EM sections of the exocrine pancreas and vesicular glands revealed normal Golgi cisternal stacking and ribbon organization

N • primary and immortalized MEFs derived from mutant mice show normal growth and morphology with no aberrant Golgi profiles observed on ultrathin epon sections relative to wild-type MEFs

abnormal Golgi cis cisterna morphology ( J:211288 )

• despite normal Golgi apparatus morphology (by light and electron microscopy), a FRAP (fluorescence recovery after photobleaching) functional assay on immortalized mutant MEFs revealed significant unlinking of the cis but not trans Golgi cisternae, unlike in wild-type MEFs

• cis Golgi ribbon unlinking leads to significantly reduced plasma membrane GSII lectin staining in immortalized mutant MEFs, suggesting altered protein N-linked glycosylation

homeostasis/metabolism

abnormal carbohydrate metabolism ( J:211288 )

• cis Golgi ribbon unlinking leads to significantly reduced plasma membrane GSII lectin staining in immortalized mutant MEFs, suggesting altered protein N-linked glycosylation

• significantly reduced or absent plasma membrane GSII lectin staining is observed on thin sections of mutant vesicular glands, but not in exocrine pancreatic ducts, indicating that the glycosylation defect is tissue specific