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Phenotypes Associated with This Genotype
Genotype
MGI:3777397
Allelic
Composition		 Urostm3Rjde/Urostm3Rjde
Genetic
Background		 involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Urostm3Rjde mutation (0 available); any Uros mutation (18 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
increased porphyrin level ( J:132542 )
• mice have marked accumulation in bones, and display fluorescent erythrodontia
abnormal enzyme/coenzyme activity ( J:132542 )
• hepatic, splenic and erythrocytic uroporphyrinogen III synthase (URO-synthase) activity is greatly reduced compared to wild-type

hematopoietic system
hematopoietic system phenotype ( J:132542 )
N
• 16-18-month old animals show similar ertythrocyte counts, hematocrits, hemoglobin concentrations, mean corpuscular volumes, and total leukocyte counts to wild-type mice

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
cutaneous porphyria DOID:13271 OMIM:263700
 J:132542

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/09/2024
MGI 6.23 		The Jackson Laboratory