About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3777399
Allelic
Composition
Urostm2Rjde/Urostm3Rjde
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Urostm2Rjde mutation (0 available); any Uros mutation (11 available)
Urostm3Rjde mutation (0 available); any Uros mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
N
• 16-18-month old animals show similar ertythrocyte counts, hematocrits, hemoglobin concentrations, mean corpuscular volumes, and total leukocyte counts to wild-type mice
• variably increased erythropoiesis is detected in the bone marrow
• phenotype consistent with compensated hemolytic anemia is observed
• reticulocyte counts are significantly increased (about 4-fold) compared to wild-type
• increased iron deposits are observed in spleen
• splenomegaly is variable with mice having spleens of normal size up to 5 times normal size
• mice show elevated hemolysis

homeostasis/metabolism
• increased iron deposits are observed in spleen
• haptoglobin levels are reduced 10-fold compared to wild-type
• total porphyrin I isomer levels are greater greater in erythrocytes, plasma, urine, liver, and feces
• loading with 5-aminolevulinic acid (ALA), plasma porphyrin I isomer levels increase immediately 2- to 3-fold higher than in untreated mutant mice (10-fold higher than wild-type)
• hepatic, splenic and erythrocytic uroporphyrinogen III synthase (URO-synthase) activity is greatly reduced compared to wild-type

immune system
• increased iron deposits are observed in spleen
• splenomegaly is variable with mice having spleens of normal size up to 5 times normal size

Mouse Models of Human Disease
OMIM ID Ref(s)
Porphyria, Congenital Erythropoietic 263700 J:132542


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
08/17/2016
MGI 6.05
The Jackson Laboratory