About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3040915
Allelic
Composition
Abcg2tm1Ahs/Abcg2tm1Ahs
Genetic
Background
either: (involves: 129P2/OlaHsd * FVB) or (involves: FVB)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcg2tm1Ahs mutation (2 available); any Abcg2 mutation (44 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
N
• hematological and plasma chemical analysis demonstrated no major abnormalities
• flow cytometry revealed no changes in the relative numbers of erythroid precursors, granulocytes, macrophages, or B cells in bone marrow of homozygous mutant mice

homeostasis/metabolism
N
• homozygous mutant mice displayed a normal lipid metabolism; no changes in plasma levels of cholesterol and phospholipids were observed
• unconjugated bilirubin levels were increased in homozygous null mice relative to wild-type; however, unconjugated bilirubin levels reverted to normal when mutant mice were fed a semisynthetic diet consisting of purified nutrients
• homozygous mutant mice exhibited a novel type of protoporphyria
• in mutant mice, erythrocyte levels of the heme precursor and phototoxin protoporphyrin IX, which is structurally related to pheophorbide a, were elevated 10-fold
• transplantation with wild-type bone marrow cured the protoporphyria and alleviated the phototoxin sensitivity
• when exposed to standard fluorescent light, all homozygous mutant mice developed phototoxic ear lesions 1 week after being fed with a "phototoxic" diet containing higher (10% or 20%) versus normal (5%) levels of alfalfa; occasionally, lesions appeared o n the tail, snout, and around the eyes
• all homozygous mutant mice were extremely (at least 100-fold) more sensitive to pheophorbide a (a phototoxic porphyrin catabolite of chlorophyll); the lowest dose at which phototoxicity occurred was 2 mg/kg/day
• at 16 mg/kg/day, ear lesions developed after 2 days, and after 3 days mutant mice developed edema of the head and became moribund; in contrast, phototoxicity was never observed in wild-type mice up to 200 mg/kg/day
• plasma levels of pheophorbide a were significantly increased in homozygous mutant mice fed with phototoxic or 20% alfalfa food compared with a "normal" food; in wild-type mice, plasma levels of pheophorbide a were not detectable on any of these diets

liver/biliary system
• unexpectedly, in homozygous mutants, the bile was red instead of yellow
• HPLC analysis demonstrated the red bile color was not caused by bilirubin or its conjugates
• the presence of red-colored bile was diet-dependent, because it disappeared in mice that were given a semisynthetic diet consisting of purified nutrients; interestingly, the red bile color reappeared following oral administration of (dark-green) pheophorbide a, suggesting that the red compound excreted in bile was a red chlorophyll catabolite or a related pheophorbide a metabolite

integument
• when exposed to standard fluorescent light, all homozygous mutant mice developed phototoxic ear lesions 1 week after being fed with a "phototoxic" diet containing higher (10% or 20%) versus normal (5%) levels of alfalfa; occasionally, lesions appeared o n the tail, snout, and around the eyes
• all homozygous mutant mice were extremely (at least 100-fold) more sensitive to pheophorbide a (a phototoxic porphyrin catabolite of chlorophyll); the lowest dose at which phototoxicity occurred was 2 mg/kg/day
• at 16 mg/kg/day, ear lesions developed after 2 days, and after 3 days mutant mice developed edema of the head and became moribund; in contrast, phototoxicity was never observed in wild-type mice up to 200 mg/kg/day
• plasma levels of pheophorbide a were significantly increased in homozygous mutant mice fed with phototoxic or 20% alfalfa food compared with a "normal" food; in wild-type mice, plasma levels of pheophorbide a were not detectable on any of these diets

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
erythropoietic protoporphyria DOID:13270 OMIM:177000
OMIM:300752
J:80519


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
12/04/2018
MGI 6.13
The Jackson Laboratory