Phenotypes associated with this allele

• Allele Symbol: Uros^tm2Rjde
• Allele Name: targeted mutation 2, Robert J Desnick
• Allele ID: MGI:3776884
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Uros^tm2Rjde/Uros^tm2Rjde	involves: 129S6/SvEvTac * C57BL/6	MGI:3777395
ht2	Uros^tm2Rjde/Uros^tm3Rjde	involves: 129S6/SvEvTac * C57BL/6	MGI:3777399
ht3	Uros^tm2Rjde/Uros^tm3Rjde	involves: 129S6/SvEvTac * C57BL/6 * SKH1	MGI:3777409

Genotype
MGI:3777395

hm1

• Allelic Composition: Uros^tm2Rjde/Uros^tm2Rjde
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

mortality/aging

preweaning lethality, complete penetrance ( J:132542 )

• no homozygous F1 offspring are obtained from heterozygous mating

Genotype
MGI:3777399

ht2

• Allelic Composition: Uros^tm2Rjde/Uros^tm3Rjde
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

growth/size/body

enlarged spleen ( J:132542 )

• splenomegaly is variable with mice having spleens of normal size up to 5 times normal size

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

enlarged spleen ( J:132542 )

• splenomegaly is variable with mice having spleens of normal size up to 5 times normal size

abnormal erythropoiesis ( J:132542 )

• variably increased erythropoiesis is detected in the bone marrow

hemolytic anemia ( J:132542 )

• phenotype consistent with compensated hemolytic anemia is observed

reticulocytosis ( J:132542 )

• reticulocyte counts are significantly increased (about 4-fold) compared to wild-type

increased spleen iron level ( J:132542 )

• increased iron deposits are observed in spleen

hemolysis ( J:132542 )

• mice show elevated hemolysis

homeostasis/metabolism

increased spleen iron level ( J:132542 )

• increased iron deposits are observed in spleen

decreased circulating haptoglobin level ( J:132542 )

• haptoglobin levels are reduced 10-fold compared to wild-type

increased porphyrin level ( J:132542 )

• 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)

abnormal enzyme/coenzyme activity ( J:132542 )

• hepatic, splenic and erythrocytic uroporphyrinogen III synthase (URO-synthase) activity is greatly reduced compared to wild-type

immune system

enlarged spleen ( J:132542 )

• splenomegaly is variable with mice having spleens of normal size up to 5 times normal size

increased spleen iron level ( J:132542 )

• 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:3777409

ht3

• Allelic Composition: Uros^tm2Rjde/Uros^tm3Rjde
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SKH1

homeostasis/metabolism

increased porphyrin level ( J:132542 )

• 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

abnormal dermal layer morphology ( J:132542 )

• separation of epidermal roof from dermal floor is observed

• rare flattened basal keratinocytes are observed

abnormal dermis papillary layer morphology ( J:132542 )

• ectatic capillaries are observed in superficial dermis, beneath the bullae

mixed cellular infiltration to dermis ( J:132542 )

• after ALA treatment and exposure to 405 nm light, thickened dermis shows a minimal mononuclear infiltrate extending to the panniculus carnosus

acanthosis ( J:132542 )

• after ALA treatment and exposure to 405 nm light, epidermis and adnexa show considerable acanthosis with a focally compact horn

skin photosensitivity ( J:132542 )

• 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

thick skin ( J:132542 )

• upon 5-aminolevulinic acid (ALA) treatment and exposure to 405 nm light, bifold skin thickness increases 2-fold compared to wild-type mice