Phenotypes associated with this allele

• Allele Symbol: Epo^tm1Jae
• Allele Name: targeted mutation 1, Rudolf Jaenisch
• Allele ID: MGI:1858038
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Epo^tm1Jae/Epo^tm1Jae	either: (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6)	MGI:3043042
hm2	Epo^tm1Jae/Epo^tm1Jae	involves: 129S4/SvJae	MGI:3835281

Genotype
MGI:3043042

hm1

• Allelic Composition: Epo^tm1Jae/Epo^tm1Jae
• Genetic Background: either: (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6)

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:29254 )

• death occurs between E13 and E15

embryo

abnormal placenta morphology ( J:29254 )

• although placenta size was normal, there were few erythrocytes present

hematopoietic system

abnormal erythropoiesis ( J:29254 )

• no erythropoietic islands found in fetal liver

• proerythroblasts and yolk sac derived erythrocytes found

• CFU-E progenitors decreased from E12.5 to E13.5

anemia ( J:29254 )

• embryos have severe anemia

• blood cell numbers reduced 5-10 fold

increased erythroid progenitor cell number ( J:29254 )

• increased numbers of CFU-E and BFU-E progenitors present

liver/biliary system

increased hepatocyte apoptosis ( J:29254 )

• many pyknotic nuclei found (apoptosis)

small liver ( J:29254 )

• fetal liver 4-5 fold smaller than normal

pale liver ( J:29254 )

cellular

increased hepatocyte apoptosis ( J:29254 )

• many pyknotic nuclei found (apoptosis)

Genotype
MGI:3835281

hm2

• Allelic Composition: Epo^tm1Jae/Epo^tm1Jae
• Genetic Background: involves: 129S4/SvJae

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:53885 )

• death occurs between E13.5 and E14.5

cardiovascular system

abnormal blood vessel morphology ( J:53885 )

• the vasculature of the heart is dilated and exists as independent vascular clumps unlike in wild-type mice

decreased angiogenesis ( J:128893 )

• at E10.5, angiogenesis in the head is decreased compared to in wild-type mice

• however, over-expression of Epo partially rescues angiogenesis

abnormal heart development ( J:53885 )

• at E12.5 to E13.5, the compact myocardial layer is thinner than in wild-type mice

abnormal interventricular septum morphology ( J:53885 )

• reduced without ventricular hypoplasia

ventricular hypoplasia ( J:53885 )

• at E12 and E13

thick ventricular wall ( J:53885 )

• at E12.5, the ventricular wall is enlarged and rounded with little external evidence of interventricular sulcus unlike in wild-type mice

abnormal interventricular groove morphology ( J:53885 )

• at E12.5, the ventricular wall is enlarged and rounded with little external evidence of interventricular sulcus unlike in wild-type mice

pericardial edema ( J:53885 )

detached epicardium ( J:53885 )

abnormal myocardial fiber physiology ( J:53885 )

• at E13.5, myocardial cell proliferation is less than in wild-type mice with 39% fewer cycling cells

• however, this decrease in proliferation cannot be accounted for by generalized hypoxia, and can be rescued in culture by treatment with Epo

hematopoietic system

anemia ( J:53885 )

• embryos have severe anemia

• blood cell numbers reduced 5-10 fold

homeostasis/metabolism

edema ( J:53885 )

• peripheral

pericardial edema ( J:53885 )