Phenotypes associated with this allele

• Allele Symbol: Man2c1^tm1.1Tbec
• Allele Name: targeted mutation 1.1, Tommaso Beccari
• Allele ID: MGI:5564742
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Man2c1^tm1.1Tbec/Man2c1^tm1.1Tbec	B6N.129P2-Man2c1^tm1.1Tbec	MGI:5564744
ht2	Man2c1^tm1.1Tbec/Man2c1^+	B6N.129P2-Man2c1^tm1.1Tbec	MGI:5564761

Genotype
MGI:5564744

hm1

• Allelic Composition: Man2c1^tm1.1Tbec/Man2c1^tm1.1Tbec
• Genetic Background: B6N.129P2-Man2c1^tm1.1Tbec

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

homeostasis/metabolism

edema ( J:205550 )

• cellular edema in hepatocytes

increased glycogen level ( J:205550 )

• in cell types capable of gluconeogenesis

increased liver glycogen level ( J:205550 )

liver/biliary system

increased liver glycogen level ( J:205550 )

abnormal hepatocyte morphology ( J:205550 )

• many hepatocytes appear swollen and feature abnormally pale cytoplasm studded with mitochondria

hepatic steatosis ( J:205550 )

• increase in the frequency of lipid droplet accumulation in hepatocytes

digestive/alimentary system

abnormal duodenum morphology ( J:205550 )

• accumulation of vacuoles on basal duodenum

abnormal small intestinal villus morphology ( J:205550 )

• irregular basal border, multiple retronuclear vacuoles and invading lymphocytes dilation of intracellular spaces

abnormal enterocyte physiology ( J:205550 )

• higher glycogen accumulation

hematopoietic system

abnormal microglial cell activation ( J:205550 )

• in CNS white matter patches

immune system

abnormal microglial cell activation ( J:205550 )

• in CNS white matter patches

renal/urinary system

abnormal renal glomerulus morphology ( J:205550 )

• small number of scattered collapsed glomeruli

renal glomerulus fibrosis ( J:205550 )

• moderate in some glomeruli

nervous system

abnormal microglial cell activation ( J:205550 )

• in CNS white matter patches

abnormal brain white matter morphology ( J:205550 )

• vacuoles in glial cells affect corpus callosum, fimbria hippocampi, internal capsule, hemispheral subcortical white matter but not in cerebellum

abnormal corpus callosum morphology ( J:205550 )

• lesions in the form of multiple irregular patches characterized by vacuolated oligodendroglial cells are present

abnormal brain internal capsule morphology ( J:205550 )

• lesions in the form of multiple irregular patches characterized by vacuolated oligodendroglial cells are present

abnormal hippocampal fimbria morphology ( J:205550 )

• lesions in the form of multiple irregular patches characterized by vacuolated oligodendroglial cells are present

abnormal neocortex morphology ( J:205550 )

• neuronal degeneration in lamina V

brain vacuoles ( J:205550 )

• predominantly concentrated on the basal aspect of pyramidal cells in isocortical lamina V

neuron degeneration ( J:205550 )

• in isocortex lamina V

abnormal oligodendrocyte physiology ( J:205550 )

• vacuolation of oligodendroglial cells in patches in the major white matter tracts

• vacuoles extend into the proximal part of the cell but do not appear to disrupt the myelin sheath

Genotype
MGI:5564761

ht2

• Allelic Composition: Man2c1^tm1.1Tbec/Man2c1⁺
• Genetic Background: B6N.129P2-Man2c1^tm1.1Tbec

liver/biliary system

hepatic steatosis ( J:205550 )

• accumulation of lipid droplets

digestive/alimentary system

digestive/alimentary phenotype ( J:205550 )

N • normal duodenum morphology

abnormal enterocyte physiology ( J:205550 )

• higher glycogen accumulation