Phenotypes associated with this allele

• Allele Symbol: Abcg2^tm1.1Ssf
• Allele Name: targeted mutation 1.1, Silvia Santamarina-Fojo
• Allele ID: MGI:5506750
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Abcg2^tm1.1Ssf/Abcg2^tm1.1Ssf	involves: 129 * C57BL/6 * FVB	MGI:5609048

Genotype
MGI:5609048

hm1

• Allelic Composition: Abcg2^tm1.1Ssf/Abcg2^tm1.1Ssf
• Genetic Background: involves: 129 * C57BL/6 * FVB

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

cellular

abnormal endoplasmic reticulum morphology ( J:201884 )

• hepatocytes exhibit altered endoplasmic reticulum network

abnormal hepatocyte mitochondrial morphology ( J:201884 )

• increase in fragmented mitochondria in hepatocytes

• only about 0.5-2.1% of mitochondrial from hepatocytes are large, fused and elongated compared to 5.3-7.8% in wild-type

• mitochondria of hepatocytes have distorted cristae structure

abnormal mitochondrial crista morphology ( J:201884 )

• mitochondria of hepatocytes have distorted cristae structure

abnormal mitochondrial physiology ( J:201884 )

• hepatocytes have about 2-fold fewer cells with mitochondrial hyperpolarized membrane potentials than wild-type cells, indicating reduced mitochondrial membrane potentials

abnormal respiratory electron transport chain ( J:201884 )

• hepatocyte mitochondria exhibit a reduction in baseline oxidative phosphorylation, maximal respiratory rate, and ATP production capability

abnormal oxidative phosphorylation ( J:201884 )

• hepatocyte mitochondria show a reduction in baseline oxidative phosphorylation

• hepatocytes exhibit a lower rate of cellular oxygen consumption related to ATP synthesis (47% vs. 58%) compared to wild-type cells

oxidative stress ( J:201884 )

• delta-amino-levulinic acid-treated hepatocytes exhibit higher level of reactive oxygen species than wild-type cells

hematopoietic system

abnormal bone marrow cell morphology/development ( J:201884 )

• mice show a 75% reduction in bone marrow side population cells

homeostasis/metabolism

abnormal glucose homeostasis ( J:201884 )

• altered pattern of glucose utilization

impaired glucose tolerance ( J:201884 )

decreased liver glycogen level ( J:201884 )

• reduction in glycogen storage in the liver

increased porphyrin level ( J:201884 )

• elevation in intracellular protoporphyrin X levels in hepatocytes

• hepatocytes show an increase in both mitochondrial and cytosolic protoporphyrin X levels

immune system

liver inflammation ( J:201884 )

• occasional infiltration of leukocytes in the liver, but no significant alteration in liver morphology

liver/biliary system

decreased liver glycogen level ( J:201884 )

• reduction in glycogen storage in the liver

liver inflammation ( J:201884 )

• occasional infiltration of leukocytes in the liver, but no significant alteration in liver morphology

abnormal hepatocyte morphology ( J:201884 )

• hepatocytes exhibit increased levels of fragmented mitochondria, altered endoplasmic reticulum network, and increased levels of protoporphyrin X

abnormal hepatocyte mitochondrial morphology ( J:201884 )

• increase in fragmented mitochondria in hepatocytes

• only about 0.5-2.1% of mitochondrial from hepatocytes are large, fused and elongated compared to 5.3-7.8% in wild-type

• mitochondria of hepatocytes have distorted cristae structure