C57BL/6JSfdAnu-Ikzf1^Plstc/ApbH

Status	Available to order
EMMA ID	EM:02169
International strain name	C57BL/6JSfdAnu-Ikzf1^Plstc/ApbH
Alternative name	Plastic, C57BL/6Apb-Ikzf1/Apb
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Ikzf1^plstc
Gene/Transgene symbol	Ikzf1

Information from provider

Provider	Chris Goodnow
Provider affiliation	The Australian National University
Genetic information	This stock carries A to G point mutation at nucleotide 572 (H191R) resulting in protein domain inactivation. A central issue in understanding the hematolymphoid system is the generation of appropriate mutant alleles in mice to reveal the function of regulatory genes. During systematically screening of the mouse genome for autoimmune regulators, the mouse strain, Plastic, was identified, with a point mutation in a zinc finger of Ikaros that disrupts DNA binding but preserves efficient assembly of the full-length protein into higher order complexes. Ikaros (Plastic) homozygosity is embryonically lethal with severe defects in terminal erythrocyte and granulocyte differentiation, excessive macrophage formation, and blocked lymphopoiesis, while heterozygotes display a partial block in lymphocyte differentiation. The contrast with more circumscribed effects of Ikaros alleles that ablate the full-length protein highlights the importance in mammals of generating recessive niche-filling alleles.
Phenotypic information	This strain has the following phenotypic effects: Embryonic lethal E15.5-17.5. Anemia. Failure of normal erythroblast growth and differentiation in fetal liver Expansion of myeloid cells including: CD34+, CD45+, FcaR+ and Mac-1hi and Gr-1lo cell populations. No detectable Gr-1hi cells. Early lymphocyte development arrest. Accumulation of precursor B cells in thymus at expense of T cell development. Premature down regulation of c-kit expression. Cell intrinsic defect. Fetal liver cells fail to engraft.
References	Widespread failure of hematolymphoid differentiation caused by a recessive niche-filling allele of the Ikaros transcription factor.;Papathanasiou Peter, Perkins Andrew C, Cobb Bradley S, Ferrini Roger, Sridharan Rupa, Hoyne Gerard F, Nelms Keats A, Smale Stephen T, Goodnow Christopher C, ;2003;Immunity;19;131-44; 12871645

Information from EMMA

Archiving centre	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Pancytopenia due to IKZF1 mutations / Orphanet_317473

MGI phenotypes (allele matching)

liver hypoplasia / MGI
decreased thymocyte number / MGI
increased T cell derived lymphoma incidence / MGI
increased leukemia incidence / MGI
premature death / MGI
abnormal B cell differentiation / MGI
abnormal T cell differentiation / MGI
abnormal lymphopoiesis / MGI
decreased double-negative T cell number / MGI
decreased double-positive T cell number / MGI
increased pro-B cell number / MGI
decreased pre-B cell number / MGI
decreased mature B cell number / MGI
myeloid hyperplasia / MGI
decreased hematocrit / MGI
decreased granulocyte number / MGI
anemia / MGI
abnormal myelopoiesis / MGI
arrested B cell differentiation / MGI
thymus hypoplasia / MGI
decreased hemoglobin content / MGI
decreased erythrocyte cell number / MGI
pallor / MGI
increased macrophage cell number / MGI
absent T cells / MGI
abnormal granulocyte differentiation / MGI
abnormal macrophage differentiation / MGI
absent pro-B cells / MGI
reticulocytopenia / MGI
decreased erythroid progenitor cell number / MGI
lethality throughout fetal growth and development, complete penetrance / MGI
abnormal erythroblast morphology / MGI
decreased fetal derived definitive erythrocyte cell number / MGI
abnormal erythropoiesis / MGI

MGI phenotypes (gene matching)

decreased hematocrit / MGI
absent pre-B cells / MGI
extramedullary hematopoiesis / MGI
abnormal erythropoiesis / MGI
decreased bone marrow cell number / MGI
decreased granulocyte number / MGI
liver hypoplasia / MGI
abnormal spleen morphology / MGI
enlarged spleen / MGI
spleen hyperplasia / MGI
enlarged lymph nodes / MGI
abnormal thymus morphology / MGI
abnormal thymus development / MGI
enlarged thymus / MGI
thymus cortex hypoplasia / MGI
decreased thymocyte number / MGI
decreased body size / MGI
anemia / MGI
abnormal myelopoiesis / MGI
multifocal hepatic necrosis / MGI
arrested B cell differentiation / MGI
thymus hypoplasia / MGI
arrested T cell differentiation / MGI
lung inflammation / MGI
neoplasm / MGI
increased T cell derived lymphoma incidence / MGI
increased leukemia incidence / MGI
premature death / MGI
abnormal definitive hematopoiesis / MGI
abnormal B cell differentiation / MGI
abnormal T cell differentiation / MGI
abnormal lymph node cortex morphology / MGI
abnormal lymph node medulla morphology / MGI
abnormal thymus lobule morphology / MGI
abnormal thymus cortex morphology / MGI
abnormal thymus medulla morphology / MGI
abnormal lymphopoiesis / MGI
increased susceptibility to bacterial infection / MGI
abnormal B cell number / MGI
increased IgG level / MGI
increased basophil cell number / MGI
abnormal immune system organ morphology / MGI
absent Peyer's patches / MGI
decreased hemoglobin content / MGI
decreased erythrocyte cell number / MGI
increased pre-B cell number / MGI
pallor / MGI
abnormal thymocyte activation / MGI
increased B-1 B cell number / MGI
increased B cell number / MGI
increased T cell number / MGI
decreased B cell number / MGI
decreased T cell number / MGI
abnormal eosinophil morphology / MGI
abnormal NK cell morphology / MGI
decreased double-negative T cell number / MGI
decreased double-positive T cell number / MGI
decreased B cell proliferation / MGI
decreased heart rate / MGI
increased T cell proliferation / MGI
immune system phenotype / MGI
increased macrophage cell number / MGI
abnormal dendritic cell morphology / MGI
abnormal common myeloid progenitor cell morphology / MGI
absent NK cells / MGI
absent T cells / MGI
absent B cells / MGI
increased CD4-positive, alpha beta T cell number / MGI
decreased CD4-positive, alpha beta T cell number / MGI
increased CD8-positive, alpha-beta T cell number / MGI
increased single-positive T cell number / MGI
decreased single-positive T cell number / MGI
lymph node hyperplasia / MGI
abnormal granulocyte differentiation / MGI
abnormal macrophage differentiation / MGI
decreased plasmacytoid dendritic cell number / MGI
abnormal dendritic cell number / MGI
decreased B-1a cell number / MGI
decreased B-1b cell number / MGI
increased pro-B cell number / MGI
absent pro-B cells / MGI
absent B-1a cells / MGI
decreased pre-B cell number / MGI
decreased mature B cell number / MGI
decreased immature B cell number / MGI
abnormal B cell activation / MGI
increased gamma-delta T cell number / MGI
decreased gamma-delta intraepithelial T cell number / MGI
decreased mature gamma-delta T cell number / MGI
abnormal peripheral lymph node morphology / MGI
absent mesenteric lymph nodes / MGI
enlarged mesenteric lymph nodes / MGI
intermingled spleen red and white pulp / MGI
decreased spleen red pulp amount / MGI
increased spleen white pulp amount / MGI
decreased spleen germinal center number / MGI
decreased IgG3 level / MGI
enlarged cervical lymph nodes / MGI
abnormal erythroid progenitor cell morphology / MGI
abnormal splenic cell ratio / MGI
reticulocytopenia / MGI
decreased erythroid progenitor cell number / MGI
decreased splenocyte number / MGI
increased nucleated erythrocyte cell number / MGI
absent inguinal lymph nodes / MGI
absent axillary lymph nodes / MGI
absent cervical lymph nodes / MGI
decreased DN1 thymic pro-T cell number / MGI
decreased DN2 thymocyte number / MGI
decreased DN3 thymocyte number / MGI
decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number / MGI
myeloid hyperplasia / MGI
abnormal gut flora balance / MGI
increased central memory CD4-positive, alpha-beta T cell number / MGI
increased effector memory CD4-positive, alpha-beta T cell number / MGI
increased central memory CD8 positive, alpha-beta T cell number / MGI
increased effector memory CD8-positive, alpha-beta T cell number / MGI
postnatal lethality, incomplete penetrance / MGI
lethality throughout fetal growth and development, complete penetrance / MGI
abnormal erythroblast morphology / MGI
decreased fetal derived definitive erythrocyte cell number / MGI
lethality, complete penetrance / MGI
abnormal natural killer cell mediated cytotoxicity / MGI
decreased pre-pro B cell number / MGI
increased lymphoma incidence / MGI
decreased CD8-positive, naive alpha-beta T cell number / MGI
increased response to antigen / MGI
enhanced humoral immune response / MGI

Literature references

Widespread failure of hematolymphoid differentiation caused by a recessive niche-filling allele of the Ikaros transcription factor.;Papathanasiou Peter, Perkins Andrew C, Cobb Bradley S, Ferrini Roger, Sridharan Rupa, Hoyne Gerard F, Nelms Keats A, Smale Stephen T, Goodnow Christopher C, ;2003;Immunity;19;131-44; 12871645

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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*
Tissue - Types of tissue, service fee and delivery time available upon request

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C57BL/6JSfdAnu-Ikzf1Plstc/ApbH