Phenotypes associated with this allele

• Allele Symbol: Zfp574^em1Btlr
• Allele Name: endonuclease-mediated mutation 1, Bruce Beutler
• Allele ID: MGI:7790452
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Zfp574^em1Btlr/Zfp574^em1Btlr	C57BL/6J-Zfp574^em1Btlr	MGI:7790490
ht2	Zfp574^em1Btlr/Zfp574^em2Btlr	C57BL/6J-Zfp574^em1Btlr Zfp574^em2Btlr	MGI:7790503
cx3	Tg(BCL2)36Wehi/0 Tg(IghMyc)22Bri/0 Zfp574^em1Btlr/Zfp574^em1Btlr	B6.Cg-Zfp574^em1Btlr Tg(BCL2)36Wehi Tg(IghMyc)22Bri	MGI:7790559
cx4	Zfp574^em1Btlr/Zfp574^em1Btlr Tg(IghMyc)22Bri/0	B6.Cg-Zfp574^em1Btlr Tg(IghMyc)22Bri	MGI:7790555
cx5	Eif2ak2^em1Btlr/Eif2ak2^em1Btlr Zfp574^em1Btlr/Zfp574^em1Btlr	C57BL/6J-Zfp574^em1Btlr Eif2ak2^em1Btlr	MGI:7790551

Genotype
MGI:7790490

hm1

• Allelic Composition: Zfp574^em1Btlr/Zfp574^em1Btlr
• Genetic Background: C57BL/6J-Zfp574^em1Btlr

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

hematopoietic system

macrocytic anemia ( J:354285 )

decreased erythrocyte cell number ( J:354285 )

decreased hematocrit ( J:354285 )

decreased hemoglobin content ( J:354285 )

increased mean corpuscular hemoglobin ( J:354285 )

decreased mean corpuscular hemoglobin concentration ( J:354285 )

increased mean corpuscular volume ( J:354285 )

increased red blood cell distribution width ( J:354285 )

thrombocytopenia ( J:354285 )

decreased leukocyte cell number ( J:354285 )

decreased neutrophil cell number ( J:354285 )

decreased lymphocyte cell number ( J:354285 )

decreased B cell number ( J:354285 )

• low percentage of B cells in the peripheral blood

decreased B-1 B cell number ( J:354285 )

decreased T cell number ( J:354285 )

• decrease in frequency of CD3+ T cells

decreased monocyte cell number ( J:354285 )

pancytopenia ( J:354285 )

abnormal B cell physiology ( J:354285 )

• cell cycle analysis of naive B cells during LPS- and IL-4-induced activation shows an increased frequency of cells arrested in G0/G1 phases with concomitant reduction of cells in S phase compared to wild-type cells

increased B cell apoptosis ( J:354285 )

• B cells adoptively transferred into sublethally irradiated wild-type hosts show increased apoptosis

decreased B cell proliferation ( J:354285 )

• B cells adoptively transferred into sublethally irradiated wild-type hosts show impaired homeostatic proliferation

abnormal class switch recombination ( J:354285 )

• splenic naive B lymphocytes in vitro show decreased LPS- and IL-4-induced class switch recombination to IgG1 and cell division

decreased immunoglobulin level ( J:354285 )

• naive mice fail to retain the capacity to produce basal levels of major immunoglobulin isotypes in serum except IgE

decreased IgA level ( J:354285 )

• in naive mice

decreased IgG level ( J:354285 )

• reduction in beta-galactosidase IgG levels following immunization with recombinant Semliki Forest virus-encoded beta-galactosidase

decreased IgG1 level ( J:354285 )

• in naive mice

decreased IgG2a level ( J:354285 )

• in naive mice

decreased IgG2b level ( J:354285 )

• in naive mice

decreased IgM level ( J:354285 )

• naive mice show reduced serum IgM level

• reduction in NP IgM levels following immunization with NP-Ficoll

immune system

decreased leukocyte cell number ( J:354285 )

decreased neutrophil cell number ( J:354285 )

decreased lymphocyte cell number ( J:354285 )

decreased B cell number ( J:354285 )

• low percentage of B cells in the peripheral blood

decreased B-1 B cell number ( J:354285 )

decreased T cell number ( J:354285 )

• decrease in frequency of CD3+ T cells

decreased monocyte cell number ( J:354285 )

abnormal B cell physiology ( J:354285 )

• cell cycle analysis of naive B cells during LPS- and IL-4-induced activation shows an increased frequency of cells arrested in G0/G1 phases with concomitant reduction of cells in S phase compared to wild-type cells

increased B cell apoptosis ( J:354285 )

• B cells adoptively transferred into sublethally irradiated wild-type hosts show increased apoptosis

decreased B cell proliferation ( J:354285 )

• B cells adoptively transferred into sublethally irradiated wild-type hosts show impaired homeostatic proliferation

abnormal class switch recombination ( J:354285 )

• splenic naive B lymphocytes in vitro show decreased LPS- and IL-4-induced class switch recombination to IgG1 and cell division

decreased immunoglobulin level ( J:354285 )

• naive mice fail to retain the capacity to produce basal levels of major immunoglobulin isotypes in serum except IgE

decreased IgA level ( J:354285 )

• in naive mice

decreased IgG level ( J:354285 )

• reduction in beta-galactosidase IgG levels following immunization with recombinant Semliki Forest virus-encoded beta-galactosidase

decreased IgG1 level ( J:354285 )

• in naive mice

decreased IgG2a level ( J:354285 )

• in naive mice

decreased IgG2b level ( J:354285 )

• in naive mice

decreased IgM level ( J:354285 )

• naive mice show reduced serum IgM level

• reduction in NP IgM levels following immunization with NP-Ficoll

abnormal humoral immune response ( J:354285 )

• reduction in T cell-independent antibody responses to NP-Ficoll

• diminished T cell-dependent antibody responses to recombinant Semliki Forest virus-encoded beta-galactosidase

cellular

increased B cell apoptosis ( J:354285 )

• B cells adoptively transferred into sublethally irradiated wild-type hosts show increased apoptosis

decreased B cell proliferation ( J:354285 )

• B cells adoptively transferred into sublethally irradiated wild-type hosts show impaired homeostatic proliferation

Genotype
MGI:7790503

ht2

• Allelic Composition: Zfp574^em1Btlr/Zfp574^em2Btlr
• Genetic Background: C57BL/6J-Zfp574^em1Btlr Zfp574^em2Btlr

mortality/aging

prenatal lethality, complete penetrance ( J:354285 )

• no pups are obtained indicating prenatal lethality

Genotype
MGI:7790559

cx3

• Allelic Composition: Tg(BCL2)36Wehi/0; Tg(IghMyc)22Bri/0; Zfp574^em1Btlr/Zfp574^em1Btlr
• Genetic Background: B6.Cg-Zfp574^em1Btlr Tg(BCL2)36Wehi Tg(IghMyc)22Bri

mortality/aging

increased tumor-free survival time ( J:354285 )

• mice exhibit extended median survival time of 113 days compared to 54 days in double Tg(IghMyc)22Bri/0 and Tg(BCL2)36Wehi/0 transgenic mice

neoplasm

increased leukemia incidence ( J:354285 )

• mice eventually develop leukemia

increased tumor latency ( J:354285 )

• mice eventually develop leukemia and die but later than Tg(IghMyc)22Bri/0 mice

Genotype
MGI:7790555

cx4

• Allelic Composition: Zfp574^em1Btlr/Zfp574^em1Btlr; Tg(IghMyc)22Bri/0
• Genetic Background: B6.Cg-Zfp574^em1Btlr Tg(IghMyc)22Bri

hematopoietic system

decreased pre-B cell number ( J:354285 )

• mice show reduced frequency of B220^low leukemic pre-B cells in blood compared to that seen in Tg(IghMyc)22Bri/0 mice

immune system

decreased pre-B cell number ( J:354285 )

• mice show reduced frequency of B220^low leukemic pre-B cells in blood compared to that seen in Tg(IghMyc)22Bri/0 mice

neoplasm

neoplasm ( J:354285 )

N • all mice remain alive with no signs of leukemia for over a year

N • mice do not show lymphoblast formation and development of lymphadenopathy

Genotype
MGI:7790551

cx5

• Allelic Composition: Eif2ak2^em1Btlr/Eif2ak2^em1Btlr; Zfp574^em1Btlr/Zfp574^em1Btlr
• Genetic Background: C57BL/6J-Zfp574^em1Btlr Eif2ak2^em1Btlr

hematopoietic system

abnormal hematopoietic system morphology/development ( J:354285 )

• no rescue of lymphocyte deficiencies, anemia, and lymphocyte functional impairments caused by homozygous Zfp574 mutation

macrocytic anemia ( J:354285 )

decreased erythrocyte cell number ( J:354285 )

decreased lymphocyte cell number ( J:354285 )

pancytopenia ( J:354285 )

abnormal B cell physiology ( J:354285 )

• cell cycle analysis of naive B cells during LPS- and IL-4-induced activation shows an increased frequency of cells arrested in G0/G1 phases with concomitant reduction of cells in S phase compared to wild-type cells

abnormal class switch recombination ( J:354285 )

• splenic naive B lymphocytes in vitro show decreased LPS- and IL-4-induced class switch recombination to IgG1 and cell division

immune system

decreased lymphocyte cell number ( J:354285 )

abnormal B cell physiology ( J:354285 )

• cell cycle analysis of naive B cells during LPS- and IL-4-induced activation shows an increased frequency of cells arrested in G0/G1 phases with concomitant reduction of cells in S phase compared to wild-type cells

abnormal class switch recombination ( J:354285 )

• splenic naive B lymphocytes in vitro show decreased LPS- and IL-4-induced class switch recombination to IgG1 and cell division

abnormal humoral immune response ( J:354285 )

• diminished T cell-independent antibody responses to NP-Ficoll

• diminished T cell-dependent antibody responses to aluminum hydroxide-precipitated ovalbumin