Phenotypes associated with this allele

• Allele Symbol: Nfe2^tm1Sho
• Allele Name: targeted mutation 1, Stuart Orkin
• Allele ID: MGI:1857224
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nfe2^tm1Sho/Nfe2^tm1Sho	involves: 129S4/SvJae * C57BL/6J	MGI:3798923
hm2	Nfe2^tm1Sho/Nfe2^tm1Sho	involves: 129/Sv * 129S4/SvJae	MGI:3798922
ht3	Nfe2^tm1Sho/Nfe2^+	C.129S4-Nfe2^tm1Sho	MGI:3798934
cx4	Nfe2^tm1Sho/Nfe2^tm1Sho Nfe2l3^tm1Vbl/Nfe2l3^tm1Vbl	involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J	MGI:3045078
cx5	Nfe2^tm1Sho/Nfe2^tm1Sho Nfe2l2^tm1Ney/Nfe2l2^tm1Ney	involves: 129/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6	MGI:3798939

Genotype
MGI:3798923

hm1

• Allelic Composition: Nfe2^tm1Sho/Nfe2^tm1Sho
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

mortality/aging

decreased survivor rate ( J:20132 )

• less than 10% of mice survive to adulthood

neonatal lethality, incomplete penetrance ( J:20132 )

• a majority of mice die during the neonatal period due to hemorrhage

• less than 10% of mice survive to adulthood

hematopoietic system

anemia ( J:20132 )

• mice that survive into adulthood exhibit intermittent anemia

abnormal megakaryocyte morphology ( J:20132 )

• megakaryocytes exhibit an increase in size compared to in wild-type mice, a paucity of granules, hyperlobulation of the nucleus, and striking emperipolesis

increased megakaryocyte cell number ( J:20132 )

• 2- to 4-fold increase of megakaryocytes in the spleen and bone marrow compared to in wild-type mice

decreased hemoglobin content ( J:20132 )

• mice exhibit decreased hemoglobin content that cannot be explained by blood loss or iron deficiency

microcytosis ( J:20132 )

• mice exhibit microcytosis that cannot be explained by blood loss or iron deficiency

absent platelets ( J:20132 )

abnormal hematopoietic system physiology ( J:20132 )

• despite normal thrombopoeitin action, late megakaryocyte maturation is blocked

enhanced megakaryocyte emperipolesis ( J:20132 )

• megakaryocytes exhibit striking emperipolesis (nonphagocytic inclusion of other blood cells within the cytoplasm)

cardiovascular system

internal hemorrhage ( J:20132 )

• after birth mice exhibit internal hemorrhages in the peritoneal cavity and the wall of the urinary bladder

• a majority of mice die during the neonatal period due to hemorrhage

growth/size/body

decreased body size ( J:20132 )

integument

pallor ( J:20132 )

• after birth

Genotype
MGI:3798922

hm2

• Allelic Composition: Nfe2^tm1Sho/Nfe2^tm1Sho
• Genetic Background: involves: 129/Sv * 129S4/SvJae

mortality/aging

decreased survivor rate ( J:20132 )

• less than 10% of mice survive to adulthood

neonatal lethality, incomplete penetrance ( J:20132 )

• a majority of mice die during the neonatal period due to hemorrhage

postnatal lethality, incomplete penetrance ( J:20132 )

• less than 10% of mice survive to adulthood

hematopoietic system

anemia ( J:20132 )

• mice that survive into adulthood exhibit intermittent anemia

abnormal megakaryocyte morphology ( J:20132 , J:106670 )

• megakaryocytes exhibit an increase in size compared to in wild-type mice, a paucity of granules, hyperlobation of the nucleus and emperipoiesis (J:20132)

• megakaryocytes are larger than normal and exhibit markers of maturity but never generate proplatelets even after prolonged culture conditions in which wild-type megakaryocytes produce proplatelets (J:106670)

increased megakaryocyte cell number ( J:20132 )

• 2- to 4-fold compared to in wild-type mice

decreased hemoglobin content ( J:20132 )

• mice exhibit decreased hemoglobin content that cannot be explained by blood loss or iron deficiency

microcytosis ( J:20132 )

• mice exhibit microcytosis that cannot be explained by blood loss or iron deficiency

thrombocytopenia ( J:106670 )

• mice exhibit thrombocytopenia that is cell autonomous

absent platelets ( J:20132 )

increased osteoclast cell number ( J:111270 )

• the number of osteoclasts is increased by greater than 3-fold compared to in wild-type mice and is accompanied by a proportional increase in osteoblasts

abnormal hematopoietic system physiology ( J:20132 , J:106670 )

• despite normal thrombopoeitin action, late megakaryocyte maturation is blocked (J:20132)

• megakaryocytes are larger than normal and exhibit markers of maturity but never generate proplatelets even after prolonged culture conditions in which wild-type megakaryocytes produce proplatelets (J:106670)

skeleton

increased osteoclast cell number ( J:111270 )

• the number of osteoclasts is increased by greater than 3-fold compared to in wild-type mice and is accompanied by a proportional increase in osteoblasts

increased trabecular bone volume ( J:111270 )

• trabecular bone volume for the entire medullary canal is increased 20-fold compared to in wild-type mice

• at 5 to 9 months of age, the trabecular bone volume is increased 2- to 3-fold compared to in wild-type mice

• at 5 months, the diaphyseal shafts are occluded with bone unlike in wild-type mice

increased compact bone mass ( J:111270 )

• at 5 to 9 months of age, the cortical bone is increased 2- to 3-fold compared to in wild-type mice

increased osteoblast cell number ( J:111270 )

• the number of osteoblasts is increased by greater than 3-fold compared to in wild-type mice and is accompanied by a proportional increase in osteoclasts

• osteoblast proliferation is increased up to 6-fold when cultured with megakaryocytes compared to in wild-type mice

increased bone ossification ( J:111270 )

• bone formation is increased 2.7-fold compared to in wild-type mice

cardiovascular system

internal hemorrhage ( J:20132 )

• after birth mice exhibit internal hemorrhages in the peritoneal cavity and the wall of the urinary bladder

• a majority of mice die during the neonatal period due to hemorrhage

immune system

increased osteoclast cell number ( J:111270 )

• the number of osteoclasts is increased by greater than 3-fold compared to in wild-type mice and is accompanied by a proportional increase in osteoblasts

growth/size/body

decreased body size ( J:20132 )

integument

pallor ( J:20132 )

• after birth

Genotype
MGI:3798934

ht3

• Allelic Composition: Nfe2^tm1Sho/Nfe2⁺
• Genetic Background: C.129S4-Nfe2^tm1Sho

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:125982 )

• mice exhibit a slightly quicker average time between exposure to the Friend virus and sacrifice compared to wild-type mice

immune system

enlarged spleen ( J:125982 )

• following exposure with the Friend virus, mice exhibit an increase in spleen size compared to similarly treated wild-type mice

increased susceptibility to Retroviridae infection ( J:125982 )

• mice exhibit a slightly quicker average time between exposure to the Friend virus and sacrifice compared to wild-type mice

• following exposure with the Friend virus, mice exhibit a shorter time span to tumor development and an increase in tumorigenic spleen volume compared to wild-type mice

neoplasm

increased incidence of induced tumors ( J:125982 )

• following exposure with the Friend virus, mice exhibit a shorter time span to tumor development and an increase in tumorigenic spleen volume compared to wild-type mice

hematopoietic system

enlarged spleen ( J:125982 )

• following exposure with the Friend virus, mice exhibit an increase in spleen size compared to similarly treated wild-type mice

growth/size/body

enlarged spleen ( J:125982 )

• following exposure with the Friend virus, mice exhibit an increase in spleen size compared to similarly treated wild-type mice

Genotype
MGI:3045078

cx4

• Allelic Composition: Nfe2^tm1Sho/Nfe2^tm1Sho; Nfe2l3^tm1Vbl/Nfe2l3^tm1Vbl
• Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J

mortality/aging

postnatal lethality ( J:89893 )

• reduced survival to adulthood but some did survive

Genotype
MGI:3798939

cx5

• Allelic Composition: Nfe2^tm1Sho/Nfe2^tm1Sho; Nfe2l2^tm1Ney/Nfe2l2^tm1Ney
• Genetic Background: involves: 129/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6

hematopoietic system

anemia ( J:47440 )

• mice exhibit anemia that is no more severe that in Nfe2^tm1Sho homozygotes

thrombocytopenia ( J:47440 )

• as in Nfe2^tm1Sho homozygotes