Phenotypes associated with this allele

• Allele Symbol: Rr104^tm1.2Mym
• Allele Name: targeted mutation 1.2, Masayuki Yamamoto
• Allele ID: MGI:5285265
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rr104^tm1.2Mym/Rr104^tm1.2Mym	Not Specified	MGI:5285266
cx2	Rr104^tm1.2Mym/Rr104^tm1.2Mym Tg(Epo*)458Mym/0	involves: C57BL/6 * DBA/2	MGI:5807394
cx3	Rr104^tm1.2Mym/Rr104^tm1.2Mym Tg(Epo*)458Mym/Tg(Epo*)458Mym	involves: C57BL/6 * DBA/2	MGI:5807395

Genotype
MGI:5285266

hm1

• Allelic Composition: Rr104^tm1.2Mym/Rr104^tm1.2Mym
• Genetic Background: Not Specified

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

mortality/aging

mortality/aging ( J:175070 )

N • unlike null mice, mice lacking the enhancer are viable

hematopoietic system

abnormal erythropoiesis ( J:175070 )

• marked decrease in mature erythroblasts in the liver at E17.5 indicating impaired hepatic erythropoiesis

anemia ( J:175070 )

• severely anemic at birth but recover in the juvenile period

• anemia starts around E15.5 and is gone by P14

decreased fetal derived definitive erythrocyte cell number ( J:175070 )

• absence of erythroid clusters in the liver at E17.5

• marked decrease in mature erythroblasts in the liver at E17.5

decreased hematocrit ( J:175070 )

• lower at birth but catch up to heterozygous littermates by P14

liver/biliary system

abnormal liver morphology ( J:175070 )

• marked decrease in mature erythroblasts in the liver at E17.5

• absence of erythroid clusters in the liver at E17.5

small liver ( J:175070 )

• slightly small in neonates

pale liver ( J:175070 )

• neonatal livers are pale

abnormal liver physiology ( J:175070 )

• increase in the number of apoptotic cells in the liver at E17.5

integument

pallor ( J:175070 )

• severely pale at birth

Genotype
MGI:5807394

cx2

• Allelic Composition: Rr104^tm1.2Mym/Rr104^tm1.2Mym; Tg(Epo*)458Mym/0
• Genetic Background: involves: C57BL/6 * DBA/2

The snout and paws of Rr104^tm1.2Mym/Rr104^tm1.2Mym Tg(Epo*)458Mym/0 (ISAM) mice are whiter than those of controls

hematopoietic system

anemia ( J:231255 )

• mice develop severe adult-onset anemia (normochromic/normocytic) due to the failure of the switch of Epo production from liver to kidney

• anemia is slightly more severe in males than females and in aged mice than in young mice

• however, embryonic erythropoiesis is normal. morphology, size and hemoglobin content of erythrocytes in peripheral blood are normal, and white blood cell and platelet counts are within normal range

decreased bone marrow cell number ( J:231255 )

decreased erythroblast number ( J:231255 )

• decrease of proerythroblast and basophilic erythroblast numbers in the bone marrow

• early erythroblasts are decreased in the spleen

decreased hematocrit ( J:231255 )

• mice show decreased hematocrit after 2 weeks of age

• treatment with an Epo-neutralizing antibody further decreases hematocrit

• treatment with a recombinant human EPO restores the hematocrit to normal levels with an increase in reticulocytes, indicating stress erythropoiesis

abnormal spleen morphology ( J:231255 )

• total splenic cells are reduced

• however, no changes in splenic architecture are seen and the size and weight of spleen remains normal

cardiovascular system

enlarged heart ( J:231255 )

• cardiomegaly

immune system

abnormal spleen morphology ( J:231255 )

• total splenic cells are reduced

• however, no changes in splenic architecture are seen and the size and weight of spleen remains normal

limbs/digits/tail

abnormal femur morphology ( J:231255 )

• distal femur is pale

skeleton

abnormal femur morphology ( J:231255 )

• distal femur is pale

growth/size/body

enlarged heart ( J:231255 )

• cardiomegaly

Genotype
MGI:5807395

cx3

• Allelic Composition: Rr104^tm1.2Mym/Rr104^tm1.2Mym; Tg(Epo*)458Mym/Tg(Epo*)458Mym
• Genetic Background: involves: C57BL/6 * DBA/2

hematopoietic system

anemia ( J:231255 )

• mice develop severe adult-onset anemia