Phenotypes associated with this allele

• Allele Symbol: Zfpm1^tm1Sho
• Allele Name: targeted mutation 1, Stuart Orkin
• Allele ID: MGI:1857554
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Zfpm1^tm1Sho/Zfpm1^tm1Sho	either: (involves: 129S1/Sv) or (involves: 129S1/Sv * C57BL/6)	MGI:2167198
hm2	Zfpm1^tm1Sho/Zfpm1^tm1Sho	involves: 129S1/Sv	MGI:3820404
cx3	Tg(Gata1-Zfpm1)1Sho/0 Zfpm1^tm1Sho/Zfpm1^tm1Sho	involves: 129S1/Sv * C57BL/6N * CD-1	MGI:3586383

Genotype
MGI:2167198

hm1

• Allelic Composition: Zfpm1^tm1Sho/Zfpm1^tm1Sho
• Genetic Background: either: (involves: 129S1/Sv) or (involves: 129S1/Sv * C57BL/6)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:47281 )

• die between E10.5 and E12.5

growth/size/body

decreased embryo size ( J:47281 )

embryo

abnormal vitelline vasculature morphology ( J:47281 )

• yolk sac vessels appear very pale and thin at E11.5 and the small capillaries appear dilated

decreased embryo size ( J:47281 )

pale yolk sac ( J:47281 )

abnormal embryonic erythropoiesis ( J:47281 )

• primitive erythroid cells appear to be partially arrested, with many cells resembling proerythroblasts

liver/biliary system

small liver ( J:47281 )

• 4-5 times smaller than wild-type

pale liver ( J:47281 )

hematopoietic system

abnormal megakaryocyte differentiation ( J:47281 )

• no mature megakaryocyte colonies or cells are obtained from yolk sacs or fetal livers and ES cells fail to differentiate into mature megakaryocytic cells in vitro, indicating an early block in megakaryocyte development

abnormal embryonic erythropoiesis ( J:47281 )

• primitive erythroid cells appear to be partially arrested, with many cells resembling proerythroblasts

abnormal erythropoiesis ( J:47281 )

• definitive erythropoiesis is severely impaired as yolk sacs and fetal livers do not generate normal hemoglobinized colony-forming unit-erythroid (CFU-E) and burst-forming unit-erythroid (BFU-E) colonies and ES cells fail to differentiate into mature erythroid cells

anemia ( J:47281 )

• severe

impaired hematopoiesis ( J:47281 )

• primative erythroid cells appear to be partially arrested, with many cells resembling proerythroblasts

• red blood cells exhibit a prominent delay in nuclear versus cytoplasmic maturation (megaloblastosis)

cardiovascular system

abnormal vitelline vasculature morphology ( J:47281 )

• yolk sac vessels appear very pale and thin at E11.5 and the small capillaries appear dilated

integument

pallor ( J:47281 )

cellular

abnormal megakaryocyte differentiation ( J:47281 )

• no mature megakaryocyte colonies or cells are obtained from yolk sacs or fetal livers and ES cells fail to differentiate into mature megakaryocytic cells in vitro, indicating an early block in megakaryocyte development

Genotype
MGI:3820404

hm2

• Allelic Composition: Zfpm1^tm1Sho/Zfpm1^tm1Sho
• Genetic Background: involves: 129S1/Sv

hematopoietic system

abnormal erythropoiesis ( J:77724 )

• yolk sac erythrocytes exhibit arrested maturation unlike in wild-type mice

abnormal megakaryocyte progenitor cell morphology ( J:77724 )

• no megakaryocyte colonies can be generated from yolk sac cells unlike when wild-type cells are cultured

Genotype
MGI:3586383

cx3

• Allelic Composition: Tg(Gata1-Zfpm1)1Sho/0; Zfpm1^tm1Sho/Zfpm1^tm1Sho
• Genetic Background: involves: 129S1/Sv * C57BL/6N * CD-1

Cardiac defects in Zfpm1^tm1Sho/Zfpm1^tm1Sho Tg(Gata1-Zfpm1)1Sho mice

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:99745 )

• with transgene rescue, embryos die between E14.5 and E15.5 with normal appearing primitive blood cells in the yolk sac and fetal liver

hematopoietic system

hematopoietic system phenotype ( J:99745 )

N • hematopoiesis, definitive erythropoiesis and megakaryopoiesis defects seen in homozygous Zfpm1 mice are rescued by the transgene

cardiovascular system

abnormal heart morphology ( J:99745 )

thin myocardium ( J:99745 )

• myocardium is variably thinner than wild-type but not as thin as in homozygous Zfpm2^tm1Sho mice

double outlet right ventricle ( J:99745 )

common atrioventricular valve ( J:99745 )

• have a single common atrioventricular valve

atrial septal defect ( J:99745 )

atrioventricular septal defect ( J:99745 )

• atrioventricular canal defect

ventricular septal defect ( J:99745 )

hemorrhage ( J:99745 )

homeostasis/metabolism

edema ( J:99745 )

integument

pallor ( J:99745 )

muscle

thin myocardium ( J:99745 )

• myocardium is variably thinner than wild-type but not as thin as in homozygous Zfpm2^tm1Sho mice