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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Urostm3Rjde
targeted mutation 3, Robert J Desnick
MGI:3776889
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Urostm3Rjde/Urostm3Rjde involves: 129S6/SvEvTac * C57BL/6 MGI:3777397
hm2
Urostm3Rjde/Urostm3Rjde involves: 129S6/SvEvTac * C57BL/6 * SKH1 MGI:3777408
ht3
Urostm2Rjde/Urostm3Rjde involves: 129S6/SvEvTac * C57BL/6 MGI:3777399
ht4
Urostm1Rjde/Urostm3Rjde involves: 129S6/SvEvTac * C57BL/6 MGI:3777400
ht5
Urostm3Rjde/Urostm4Rjde involves: 129S6/SvEvTac * C57BL/6 MGI:3777402
ht6
Urostm2Rjde/Urostm3Rjde involves: 129S6/SvEvTac * C57BL/6 * SKH1 MGI:3777409


Genotype
MGI:3777397
hm1
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 (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• mice have marked accumulation in bones, and display fluorescent erythrodontia
• hepatic, splenic and erythrocytic uroporphyrinogen III synthase (URO-synthase) activity is greatly reduced compared to wild-type

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

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




Genotype
MGI:3777408
hm2
Allelic
Composition
Urostm3Rjde/Urostm3Rjde
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * SKH1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Urostm3Rjde mutation (0 available); any Uros mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• 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)

integument
• after ALA treatment and exposure to 405 nm light, epidermis shows slight thickening compared to wild-type skin
• after 5-aminolevulinic acid (ALA) treatment and exposure to 405 nm light, mice show slight thickening of epidermis, but not the dermis




Genotype
MGI:3777399
ht3
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 (10 available)
Urostm3Rjde mutation (0 available); any Uros mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• splenomegaly is variable with mice having spleens of normal size up to 5 times normal size

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

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




Genotype
MGI:3777400
ht4
Allelic
Composition
Urostm1Rjde/Urostm3Rjde
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Urostm1Rjde mutation (0 available); any Uros mutation (10 available)
Urostm3Rjde mutation (0 available); any Uros mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• mice have marked accumulation in bones, and display fluorescent erythrodontia




Genotype
MGI:3777402
ht5
Allelic
Composition
Urostm3Rjde/Urostm4Rjde
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 (10 available)
Urostm4Rjde mutation (0 available); any Uros mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• total porphyrin I isomer levels are greater greater in erythrocytes, plasma, urine, liver, and feces




Genotype
MGI:3777409
ht6
Allelic
Composition
Urostm2Rjde/Urostm3Rjde
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * SKH1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Urostm2Rjde mutation (0 available); any Uros mutation (10 available)
Urostm3Rjde mutation (0 available); any Uros mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• 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)

integument
• separation of epidermal roof from dermal floor is observed
• rare flattened basal keratinocytes are observed
• ectatic capillaries are observed in superficial dermis, beneath the bullae
• after ALA treatment and exposure to 405 nm light, thickened dermis shows a minimal mononuclear infiltrate extending to the panniculus carnosus
• after ALA treatment and exposure to 405 nm light, epidermis and adnexa show considerable acanthosis with a focally compact horn
• upon loading with 5-aminolevulinic acid (ALA) to accelerate porphyrin accumulation and exposure to 405 nm light for 10 days,, mice show significant porphyrin photosensitivity compared to wild-type mice
• upon 5-aminolevulinic acid (ALA) treatment and exposure to 405 nm light, bifold skin thickness increases 2-fold compared to wild-type mice





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last database update
04/06/2021
MGI 6.16
The Jackson Laboratory