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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Nfe2l1tm1Ywk
targeted mutation 1, Yuet Wai Kan
MGI:2385929
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Nfe2l1tm1Ywk/Nfe2l1tm1Ywk involves: 129X1/SvJ MGI:3839458
hm2
Nfe2l1tm1Ywk/Nfe2l1tm1Ywk involves: 129X1/SvJ * C57BL/6J MGI:2672111
cn3
Nfe2l1tm1Jefc/Nfe2l1tm1Ywk
Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
involves: 129X1/SvJ * C57BL/6J MGI:3575312
cx4
Nfe2l1tm1Ywk/Nfe2l1tm1Ywk
Nfe2l2tm1Ywk/Nfe2l2tm1Ywk
involves: 129X1/SvJ MGI:3839459


Genotype
MGI:3839458
hm1
Allelic
Composition
Nfe2l1tm1Ywk/Nfe2l1tm1Ywk
Genetic
Background
involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfe2l1tm1Ywk mutation (0 available); any Nfe2l1 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• cultured fibroblasts exhibit a 2-fold increase in oxidative stress compared to wild-type cells




Genotype
MGI:2672111
hm2
Allelic
Composition
Nfe2l1tm1Ywk/Nfe2l1tm1Ywk
Genetic
Background
involves: 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfe2l1tm1Ywk mutation (0 available); any Nfe2l1 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes are recovered at an increasingly reduced Mendelian frequency after E12.5
• although a significant number of viable homozygotes is still present at E16.5, only a few homozygotes are identified by E17.5-E18.5
• on very rare occasions, live homozygotes are identified immediately after birth; however, these appear significantly pale and die within a few hours of birth

hematopoietic system
• homozygotes display a non-cell autonomous defect in fetal liver erythropoiesis due to a delay or arrest of erythroid cell maturation
• at E15.5-E16.5, mutant livers display only a few erythroid cells beyond the normoblast stage; only a few normoblasts, reticulocytes, and mature enucleated RBCs are observed within the vessels and sinusoids
• homozygotes are anemic as a result of abnormal fetal liver hematopoiesis
• however, no defect in globin gene expression or other major developmental abnormalities are observed
• by E16.5, the hematocrits of mutant embryos are reduced by ~50% relative to those of control embryos
• at E16.5, peripheral blood smears of mutant embryos exhibit a high % of nucleated RBCs (20%) relative to wild-type and heterozygous embryos (<1%), inidcating persistence of yolk-sac derived primitive erythrocytes
• while a comparable number of nucleated RBCs is noted at E13.5, the number of definitive enucleared RBCs is decreased in mutant embryos relative to controls

growth/size/body
• at E10.5-E12.5, mutant embryos are significantly smaller than wild-type or heterozygous embryos

liver/biliary system
• at E12.5, mutant livers are visibly smaller than wild-type livers
• a prominent reduction in liver size is evident by E13.5-E14.5
• at E15.5, mutant livers are pale

embryo
• at E10.5-E12.5, mutant embryos are significantly smaller than wild-type or heterozygous embryos

integument
• by E13.5-E15.5, mutant embryos are pale relative to wild-type or heterozygous embryos




Genotype
MGI:3575312
cn3
Allelic
Composition
Nfe2l1tm1Jefc/Nfe2l1tm1Ywk
Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic
Background
involves: 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfe2l1tm1Jefc mutation (0 available); any Nfe2l1 mutation (10 available)
Nfe2l1tm1Ywk mutation (0 available); any Nfe2l1 mutation (10 available)
Speer6-ps1Tg(Alb-cre)21Mgn mutation (5 available); any Speer6-ps1 mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• note: apoptotic cells and necrosis are seen in 4 weeks old mutant mice liver

neoplasm
• at 10-12 months, enlarged livers with multiple tumors were seen in 100% (12/12) mutant mice
• at 10-12 months, enlarged livers with multiple tumors were seen in 100% (12/12) mutant mice

homeostasis/metabolism

immune system
• infiltration of inflammatory cells are seen in 4 weeks old mutant mice liver

liver/biliary system
• note: apoptotic cells and necrosis are seen in 4 weeks old mutant mice liver
• infiltration of inflammatory cells are seen in 4 weeks old mutant mice liver
• at 4 weeks, fatty vacuolated cells in liver had a 3-fold elevation in triglyceride levels
• lipid accumulation was also seen in cultures of primary hepatocytes derived from mutant mice
• pericentral and pericellular fibrosis was seen in older animals
• at 10-12 months, enlarged livers with multiple tumors were seen in 100% (12/12) mutant mice
• at 10-12 months, enlarged livers with multiple tumors were seen in 100% (12/12) mutant mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
hepatocellular carcinoma DOID:684 OMIM:114550
J:97188




Genotype
MGI:3839459
cx4
Allelic
Composition
Nfe2l1tm1Ywk/Nfe2l1tm1Ywk
Nfe2l2tm1Ywk/Nfe2l2tm1Ywk
Genetic
Background
involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfe2l1tm1Ywk mutation (0 available); any Nfe2l1 mutation (10 available)
Nfe2l2tm1Ywk mutation (1 available); any Nfe2l2 mutation (64 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Abnormal development of Nfe2l1tm1Ywk/Nfe2l1tm1Ywk Nfe2l2tm1Ywk/Nfe2l2tm1Ywk embryos with increased apoptosis

mortality/aging

cellular
• at E10.5, embryos exhibit increased apoptosis in the brain, branchial arches, lung, and gut compared to wild-type mice
• primary fibroblasts exhibit a 10-fold higher rate of apoptosis compared to wild-type cells
• fibroblasts exhibit increased cell death in 21% oxygen conditions unlike wild-type cells
• however, treatment of cells with vitamin E or N-acetylcysteine decreases cell death due to oxidative stress
• cultured fibroblasts exhibit a 4-fold increase in oxidative stress compared to wild-type cells

embryo
• E10.5 mutants are developmentally delayed
• small at E10.5

growth/size/body
• E10.5 mutants are developmentally delayed
• small at E10.5





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory