Mouse Genome Informatics
cn1
    Adh5tm1.1Llli/Adh5tm1.1Llli
Tg(Vav1-cre)A2Kio/0

B6.Cg-Adh5tm1.1Llli Tg(Vav1-cre)A2Kio
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
N
• mice exhibit normal survival following diethylnitrosamine (DEN) challenged (J:173666)


Mouse Genome Informatics
cn2
    Egln1tm2.1Fsl/Egln1tm2.1Fsl
Tg(Vav1-cre)A2Kio/0

B6.Cg-Egln1tm2.1Fsl Tg(Vav1-cre)A2Kio
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
• mice exhibit erythrocytosis, however, erythropoietin levels are not increased
• hematocrits are modestly increased over controls
• increased numbers of BFU-E colonies are observed at both high and low concentrations of erythropoietin


Mouse Genome Informatics
cn3
    Patz1tm1.2Welm/Patz1tm1.2Welm
Tg(Vav1-cre)A2Kio/0

B6.Cg-Patz1tm1.2Welm Tg(Vav1-cre)A2Kio
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
N
• mice subjected to systemic anaphylaxis exhibit normal histamine release response of mast cells in vivo (J:209168)
• mice exhibit normal cutaneous anaphylaxis response (J:209168)
• bone marrow-derived mast cells exhibit normal early and late effector functions upon Fcer1-mediated activation (J:209168)
• bone marrow cultures yield less bone marrow-derived mast cells compared with wild-type cultures
• however, in vivo numbers of mast cells in the ear skin are normal
• in bone marrow-derived mast cells activated with TNP

cellular
• bone marrow cultures yield less bone marrow-derived mast cells compared with wild-type cultures
• however, in vivo numbers of mast cells in the ear skin are normal

hematopoietic system
• bone marrow cultures yield less bone marrow-derived mast cells compared with wild-type cultures
• however, in vivo numbers of mast cells in the ear skin are normal


Mouse Genome Informatics
cn4
    Cdkn1atm1Led/Cdkn1atm1Led
Zbtb17tm1Cksn/Zbtb17tm1Cksn
Tg(Vav1-cre)A2Kio/0

B6.Cg-Zbtb17tm1Cksn Cdkn1atm1Led Tg(Vav1-cre)A2Kio
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
• double negative to double positive differentiation is blocked unlike in wild-type mice

hematopoietic system
• double negative to double positive differentiation is blocked unlike in wild-type mice


Mouse Genome Informatics
cn5
    Zbtb17tm1Cksn/Zbtb17tm1Cksn
Tg(Vav1-cre)A2Kio/0

B6.Cg-Zbtb17tm1Cksn Tg(Vav1-cre)A2Kio
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
• pro-T cells exhibit excessive cell death unlike wild-type cells
• 100-fold reduction in cellularity
• alphabeta-T cells are reduced 1000-fold compared to in wild-type mice
• early T-cell precursors in the thymus are reduced compared to in wild-type mice
• DN1a-e subsets are decreased 70- to 130-fold compared to in wild-type mice
• DN1a/b cells are decreased 230-fold compared to in wild-type mice
• 100-fold reduction in DN2a cells
• 40-fold reduction in DN2b cells
• 3-fold reduction in DN3a cells
• 10-fold reduction in DN3b cells
• early lymphoid progenitors and early thymic precursors fail to differentiate into mature T cells in the presence of Il7 unlike in wild-type mice
• however, inhibition of SOCS1 or overexpression of Bcl2 restores T cell differentiation in vitro

hematopoietic system
• pro-T cells exhibit excessive cell death unlike wild-type cells
• 100-fold reduction in cellularity
• alphabeta-T cells are reduced 1000-fold compared to in wild-type mice
• early T-cell precursors in the thymus are reduced compared to in wild-type mice
• DN1a-e subsets are decreased 70- to 130-fold compared to in wild-type mice
• DN1a/b cells are decreased 230-fold compared to in wild-type mice
• 100-fold reduction in DN2a cells
• 40-fold reduction in DN2b cells
• 3-fold reduction in DN3a cells
• 10-fold reduction in DN3b cells
• however, inhibition of SOCS1 or overexpression of Bcl2 restores T cell differentiation in vitro
• early lymphoid progenitors and early thymic precursors fail to differentiate into mature T cells in the presence of Il7 unlike in wild-type mice

cellular
• pro-T cells exhibit excessive cell death unlike wild-type cells

endocrine/exocrine glands
• 100-fold reduction in cellularity
• early T-cell precursors in the thymus are reduced compared to in wild-type mice
• DN1a-e subsets are decreased 70- to 130-fold compared to in wild-type mice
• DN1a/b cells are decreased 230-fold compared to in wild-type mice
• 100-fold reduction in DN2a cells
• 40-fold reduction in DN2b cells
• 3-fold reduction in DN3a cells
• 10-fold reduction in DN3b cells


Mouse Genome Informatics
cn6
    Ifngr1tm1.1Rds/Ifngr1tm1.1Rds
Tg(Vav1-cre)A2Kio/0

B6NTac.Cg-Ifngr1tm1.1Rds Tg(Vav1-cre)A2Kio
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging

immune system
• mice infected with L. monocytogenes exhibit increased mortality and spleen and liver bacterial counts compared with control mice


Mouse Genome Informatics
cn7
    Kdm1atm1.1Sho/Kdm1atm1.1Sho
Tg(Vav1-cre)A2Kio/0

involves: 129 * C57BL/6 * C57BL/10 * CBA/Ca
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
• hematopoietic stem and progenitor cell populations are distorted
• 30 fold decrease in numbers of myeloid progenitors (Sca-1- cKit+, LS-K+)
• found in peripheral blood of 5 day old mice as compared to control
• found in peripheral blood of 5 day old mice as compared to control
• found in peripheral blood of 5 day old mice as compared to control
• found in femur and tibia of 5 day old mice as compared to control
• 30 fold decrease in numbers of hematopoietic stem cells and multipotent progenitors (Sca-1+ cKit+, LS+K+)

immune system
• found in peripheral blood of 5 day old mice as compared to control

growth/size
• newborn pups are smaller than controls

mortality/aging
• lethality is a result severe anemia
• most mice die by day 10


Mouse Genome Informatics
cn8
    Suv420h1tm1Jnw/Suv420h1tm1Jnw
Suv420h2tm1.1Jnw/Suv420h2tm1.1Jnw
Tg(Vav1-cre)A2Kio/0

involves: 129/Sv * C57BL/6J * C57BL/10 * CBA/Ca
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
N
• V(D)J recombination in B and T cells is normal (J:139510)
• the number of mature and re-circulating B cells is decreased compared to in wild-type mice
• however, the numbers of pro- and pre-B cells is normal
• in a competitive reconstitution assay, cells fail to repopulate the B and T cell population as well as do wild type cells
• fewer cells undergo the switch from IgM to IgG1 or IgG3 compared to in wild type mice
• however, there is no increase in Igh chromosomal aberrations

hematopoietic system
• the number of mature and re-circulating B cells is decreased compared to in wild-type mice
• however, the numbers of pro- and pre-B cells is normal
• in a competitive reconstitution assay, cells fail to repopulate the B and T cell population as well as do wild type cells
• fewer cells undergo the switch from IgM to IgG1 or IgG3 compared to in wild type mice
• however, there is no increase in Igh chromosomal aberrations


Mouse Genome Informatics
cn9
    Dhx36tm1.2Pmt/Dhx36tm1.2Pmt
Tg(Vav1-cre)A2Kio/0

involves: 129P2/Ola * 129S4/SvJaeSor * C57BL/6 * C57BL/10 * CBA/Ca
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
• without affecting architecture
• mice exhibit an increase in ProE and Ery.A fractions but a decrease in Ery.B and Ery.C in the bone marrow compared with control mice
• mice exhibit an increase in ProE and Ery.A fractions but a decrease in Ery.C in the spleen compared with control mice
• early erythropoiesis is partially blocked in association with a cell cycle defect
• proerythroblast exhibit reduced proliferation compared with control cells
• however, proerythroblast apoptosis rates are normal
• intrinsic as determined by bone marrow transplantation
• secondary
• decrease in the granulocyte macrophage progenitor (GMP) cells in the bone marrow
• increase in the megakaryocyte-erythroid progenitor (MEP) cells in the spleen
• decrease in the granulocyte macrophage progenitor (GMP) cells in the bone marrow
• ProE cells are increased 3.6- and 74-fold in the bone marrow and spleen compared with control mice
• in the bone marrow
• 4.7-fold in the spleen
• early long and short term hematopoietic stem cells are increased compared to in control mice
• however, the number of lymphoid-primed multipotent progenitors is normal and the increased in hematopoietic stem cells disappears in the alter stages of differentiation
• in adult mice
• reduced half-life

liver/biliary system
• in adult mice

renal/urinary system

cellular
• proerythroblast exhibit reduced proliferation compared with control cells

integument
• at birth

immune system
• without affecting architecture
• in adult mice

endocrine/exocrine glands
• without affecting architecture


Mouse Genome Informatics
cn10
    Tcf3tm1Mbu/Tcf3tm1Mbu
Tg(Ikzf1-Tcfe2a,GFP)1Mbu/0
Tg(Vav1-cre)A2Kio/0

involves: 129P2/OlaHsd * C57BL * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
N
• c-Kit+B220+ pro-B cells and c-Kit-B220+ developmental stages are rescued (J:137719)


Mouse Genome Informatics
cn11
    Tcf3tm1Mbu/Tcf3tm1Mbu
Tg(Vav1-cre)A2Kio/0

involves: 129P2/OlaHsd * C57BL/10 * CBA/Ca
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
• mice lack committed c-Kit+CD19+ pro-B cells

immune system
• mice lack committed c-Kit+CD19+ pro-B cells


Mouse Genome Informatics
cn12
    Ikzf1tm1.1(Pax5)Mbu/Ikzf1+
Tcf3tm1Mbu/Tcf3tm1Mbu
Tg(Vav1-cre)A2Kio/0

involves: 129P2/OlaHsd * C57BL/10 * CBA/Ca
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
N
• development of pro-B cells is rescued (J:137719)
• proximal VH7183-DJH and distal VHJ558-DJH rearrangements of the IgH are reduced compared to in wild-type mice
• Vk-Jk recombination of the Igk locus is absent

hematopoietic system
• proximal VH7183-DJH and distal VHJ558-DJH rearrangements of the IgH are reduced compared to in wild-type mice
• Vk-Jk recombination of the Igk locus is absent


Mouse Genome Informatics
cn13
    Rbpjtm1Hon/Rbpjtm1Hon
Tg(Vav1-cre)A2Kio/0

involves: 129P2/OlaHsd * C57BL/10 * CBA/Ca
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
tumorigenesis
• transplanted bone marrow progenitors transfected with BCR-ABL and NUP98-HOXA9 proliferate slower than similarly treated wild-type cells improving host survival


Mouse Genome Informatics
cn14
    Idh1tm1Mak/Idh1tm1Mak
Tg(Vav1-cre)A2Kio/0

involves: 129P2/OlaHsd * C57BL/6 * C57BL/10 * CBA/Ca
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
N
• mice exhibit normal hematopoietical parameters in peripheral blood and normal bone marrow cell numbers (J:186700)
• increase in common lymphocyte progenitor cells in the bone marrow and spleen
• increase in megakaryocyte-erythroid progenitors in the spleen
• increase in LSK and lineage-restricted progenitors in the bone marrow and spleen
• increase in LK in the spleen

immune system
• increase in megakaryocyte-erythroid progenitors in the spleen


Mouse Genome Informatics
cn15
    Myd88tm1Defr/Myd88tm1Defr
Tg(Vav1-cre)A2Kio/0

involves: 129P2/OlaHsd * C57BL/6 * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
• NK cells fail to make IFN-gamma in response to injections of TLR9 agonists
• NK cells in vivo have a blunted IFN-gamma response to LPS injections

hematopoietic system
• NK cells fail to make IFN-gamma in response to injections of TLR9 agonists
• NK cells in vivo have a blunted IFN-gamma response to LPS injections


Mouse Genome Informatics
cn16
    Syktm1.1Nns/Syktm1.1Nns
Tg(Tie1-cre)9Ref/0
Tg(Vav1-cre)A2Kio/0

involves: 129S1/Sv * 129X1/SvJ * C57BL/10 * CBA/Ca
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
N
• unlike null homozygotes, mice survive to adulthood (J:181715)

immune system
• at E14.5, mice exhibit blood-filled vessels unlike wild-type mice


Mouse Genome Informatics
cn17
    Kmt2atm1Brad/Kmt2atm1Brad
Tg(Vav1-cre)A2Kio/?

involves: 129S4/SvJae * C57BL/6 * C57BL/10 * CBA/Ca
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
• there is about a 2-fold reduction in myeloid CFU number isolated from E13.5 fetal livers
• a similar reduction in CFU is observed with bone marrow cells
• there is about a 3-fold reduction in pre-B cell CFUs isolated from bone marrow
• mutant HSC bone marrow cells give less then a 1% long-term reconstitution when transplanted at a 1:1 ratio with wild-type bone marrow into irradiated mice
• mutant HSC bone marrow cells give only a 2% long-term reconstitution when transplanted at a 10:1 ratio
• poor reconstitution is observable as little as 4 weeks after transfer

immune system
• there is about a 3-fold reduction in pre-B cell CFUs isolated from bone marrow


Mouse Genome Informatics
cn18
    Rr7tm3.1Kio/Rr7+
Tg(Vav1-cre)A2Kio/0

involves: 129S4/SvJae * C57BL/6 * C57BL/10 * CBA/Ca
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
N
• mice exhibit normal expression of Cd8a and Cd8b (J:179326)


Mouse Genome Informatics
cn19
    Gpr116tm1.1Bstc/Gpr116tm1.2Bstc
Tg(Vav1-cre)A2Kio/0

involves: 129S4/SvJae * C57BL/6J * C57BL/10 * CBA/Ca
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
respiratory system
N
• mice exhibit normal surfactant homeostasis in the lung (J:196943)


Mouse Genome Informatics
cn20
    Kitltm2.1Sjm/Kitltm2.2Sjm
Tg(Vav1-cre)A2Kio/0

involves: BALB/cJ * C57BL * CBA/Ca * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
N
• exhibit normal blood cell counts, bone marrow composition, bone marrow and spleen cellularity, and reconstitution capacity (J:180431)
• 2-fold as in Kitltm2.2Sjm heterozygotes in the bone marrow


Mouse Genome Informatics
cn21
    Syktm1.1Nns/Syktm1.1Nns
Tg(Vav1-cre)A2Kio/0

involves: C57BL/10 * CBA/Ca
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
N
• unlike null homozygotes, mice survive to adulthood (J:181715)

immune system
• at E14.5, mice exhibit blood-filled vessels unlike control mice
• at 8 weeks, dye injection confirms interconnection between lymphatic and blood vessels with rapid spread labeling unlike in control mice

cardiovascular system
• at 8 weeks, dye injection confirms interconnection between lymphatic and blood vessels with rapid spread labeling unlike in control mice

homeostasis/metabolism
• at E14.5


Mouse Genome Informatics
cn22
    Tg(Kit*D814V)1Roer/0
Tg(Vav1-cre)A2Kio/0

involves: C57BL/6 * C57BL/10 * CBA/Ca
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• similar to the phenotype in mice carrying Tg(CMV-cre)1Cgn and Tg(Kit*D814V)1Roer


Mouse Genome Informatics
cn23
    Tg(Kit*D814V)3Roer/0
Tg(Vav1-cre)A2Kio/0

involves: C57BL/6 * C57BL/10 * CBA/Ca
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• similar to the phenotype in mice carrying Tg(CMV-cre)1Cgn and Tg(Kit*D814V)3Roer


Mouse Genome Informatics
cn24
    Idh1tm2Mak/Idh1tm2Mak
Tg(Vav1-cre)A2Kio/0

involves: C57BL/6 * C57BL/10 * CBA/Ca
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
N
• mice exhibit normal hematopoietical parameters in peripheral blood and normal bone marrow cell numbers (J:186700)
• increase in common lymphocyte progenitor cells in the bone marrow and spleen
• increase in megakaryocyte-erythroid progenitors in the spleen
• increase in LSK and lineage-restricted progenitors in the bone marrow and spleen
• increase in LK in the spleen

immune system
• increase in megakaryocyte-erythroid progenitors in the spleen


Mouse Genome Informatics
cn25
    Gt(ROSA)26Sortm1(CAG-PSTPIP1)Dtg/Gt(ROSA)26Sor+
Tg(Vav1-cre)A2Kio/0

involves: C57BL/6 * C57BL/10 * CBA/Ca
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
normal phenotype
• mice do not show any abnormalities


Mouse Genome Informatics
cn26
    Gt(ROSA)26Sortm2(CAG-PSTPIP1*)Dtg/Gt(ROSA)26Sor+
Tg(Vav1-cre)A2Kio/0

involves: C57BL/6 * C57BL/10 * CBA/Ca
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
N
• mice exhibit normal behavior (J:196002)

growth/size
N
• mice exhibit normal body weight (J:196002)

immune system
N
• mice produce normal levels of proinflammatory cytokines when provoked with inflammasome-activating stimuli (J:196002)


Mouse Genome Informatics
cn27
    Tg(JAK2*V617F)FF1Rsko/0
Tg(Vav1-cre)A2Kio/0

involves: C57BL/6 * C57BL/10 * CBA/Ca
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
• colony assays of progenitors show extramedullary hematopoiesis with markedly increased erythroid and myeloid progenitor numbers in spleen
• bones are pale at 20 weeks of age, suggesting decreased erythropoiesis
• erythroid TER-119+ cells are reduced in the bone marrow but a compensatory increase is seen in the spleen at 20 weeks of age
• slight decrease in hemoglobin at 20 weeks of age but is normal at 10 weeks of age
• colony assays of progenitors show extramedullary hematopoiesis with markedly increased erythroid and myeloid progenitor numbers in spleen
• slight increase in neutrophils at 10 and 20 weeks of age
• the relative amount of B and T cells in the spleen and bone marrow is reduced at 20 weeks of age
• the relative amount of B and T cells in the spleen and bone marrow is reduced at 20 weeks of age
• myeloid cells are the predominant cell population in the bone marrow and are increased in the spleen at 20 weeks of age
• liver shows extramedullary hematopoiesis at 20 weeks of age with highly atypical megakaryocytes, but islands with myelopoeisis and erythropoiesis are also seen
• colony assays of progenitors show extramedullary hematopoiesis with markedly increased erythroid and myeloid progenitor numbers in spleen
• hematopoietic cells, including megakaryocytes are seen in the lung at 20 weeks of age
• bone marrow shows hypercellularity with trilineage hyperplasia at 20 weeks of age
• collagen-based culture indicates a small increase in CFU-MK in bone marrow and a massive expansion of CFU-MK in the spleen
• thrombocytosis is seen at 10 weeks of age, with a massive increase in platelets at 20 weeks of age
• increase in numbers of megakaryocytes in the spleen and bone marrow at 20 weeks of age, most with morphological abnormalities such as hyperchromatic, hyperlobulated nuclei, and bizarre nuclear configuration, and often forming clusters
• destruction of normal splenic architecture by atypical hematopoiesis is seen in some sections of the spleen at 20 weeks of age
• seen at 20 weeks of age

immune system
• slight increase in neutrophils at 10 and 20 weeks of age
• the relative amount of B and T cells in the spleen and bone marrow is reduced at 20 weeks of age
• the relative amount of B and T cells in the spleen and bone marrow is reduced at 20 weeks of age
• myeloid cells are the predominant cell population in the bone marrow and are increased in the spleen at 20 weeks of age
• destruction of normal splenic architecture by atypical hematopoiesis is seen in some sections of the spleen at 20 weeks of age
• seen at 20 weeks of age

skeleton
• dilated sinusoids with intrasinusoidal hematopoiesis are seen in the bone marrow at 20 weeks of age
• myeloid cells are the predominant cell population in the bone marrow
• presence of myelofibrosis at 20 weeks of age

Mouse Models of Human Disease
OMIM IDRef(s)
Thrombocythemia 3; THCYT3 614521 J:134364


Mouse Genome Informatics
cn28
    Bcl11atm1Pwt/Bcl11atm1Pwt
Tg(Vav1-cre)A2Kio/0

involves: C57BL/6 * C57BL/10 * CBA/Ca
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
N
• granulocytes, T cells, macrophage conventional dendritic cells and dendritic cell progenitors not affected in spleen and bone marrow (J:207383)
• 10- to 50-fold reduction in bone marrow at 6 weeks of age
• also reduced in the spleen but not as severely as in the bone marrow
• 10- to 50-fold reduction in bone marrow at 6 weeks of age
• proportionate to the loss of plasmacytoid dendritic cell in bone marrow and spleen
• about a 2-fold decrease in the bone marrow

immune system
• 10- to 50-fold reduction in bone marrow at 6 weeks of age
• also reduced in the spleen but not as severely as in the bone marrow
• 10- to 50-fold reduction in bone marrow at 6 weeks of age
• proportionate to the loss of plasmacytoid dendritic cell in bone marrow and spleen
• following infection with human HSV strain 17

homeostasis/metabolism
• following infection with human HSV strain 17


Mouse Genome Informatics
cn29
    Rc3h1tm1.1Mass/Rc3h1tm1.1Mass
Tg(Vav1-cre)A2Kio/0

involves: C57BL/6 * C57BL/10 * CBA/Ca * NZB * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Increased spleen size in Rc3h1tm1.1Mass/Rc3h1tm1.1MassTg(Vav1-cre)A2Kio/0 mice

immune system
N
• mice exhibit normal T cell development and autoimmunity (J:177784)
• immature and re-circulating B cells
• in the bone marrow
• increased numbers in the spleen
• 1.5-fold but not as severe as in Rc3h1san homozygotes
• 1.5-fold
• mice exhibit increased spontaneous germinal center formation compared with control mice

hematopoietic system
• immature and re-circulating B cells
• in the bone marrow
• increased numbers in the spleen
• 1.5-fold but not as severe as in Rc3h1san homozygotes
• 1.5-fold
• mice exhibit increased spontaneous germinal center formation compared with control mice


Mouse Genome Informatics
cn30
    Atg7tm1Tchi/Atg7tm1Tchi
Tg(Vav1-cre)A2Kio/0

involves: C57BL/6NCrlj * C57BL/10 * CBA/Ca * CBA/JNCrlj
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
• reduction in most myeloid progenitors
• numbers of myeloid subsets CD11b+Gr1- and CD11b-Gr1+ are reduced in blood and decrease further over time
• numbers of CD11b+Gr1+ cells are increased in the blood at 5 and 6 weeks of age but then decrease to below wild-type levels at 8 weeks of age
• CD11b+Gr1+ cells in the spleen and bone marrow are increased and show higher proliferation rates
• mutants exhibit presence of atypical myeloid infiltrates in a wide range of organs
• mutants are cytopenic for all blood leukocyte populations except for CD11b+Gr1+ cells
• absolute cell counts of B cells are decreased in the peripheral blood of mutants and numbers drop steadily over time
• immature NK cells (Lin-CD3-CD122+NK1.1+DX5+) are depleted in the bone marrow
• absolute cell counts of NK cells are decreased in the peripheral blood of mutants and numbers drop steadily over time
• absolute cell counts of T cells are decreased in the peripheral blood of mutants and numbers drop steadily over time
• common lymphoid progenitors (Lin-Flt3HighIL7RaHighSca-1Lowc-KitLow) are reduced in mutants
• numbers of CCR9+ lymphoid-primed multipotent progenitors are reduced in the bone marrow of mutants
• overall bone marrow cell count is reduced
• mutant LSK (Lin-Sca-1+c-Kit+) cells accumulate mitochondria, mitochondrial superoxide, and DNA damage and exhibit increased levels of apoptosis and proliferation
• numbers of hematopoietic stem cells are reduced in all mutants, regardless of disease progression
• absolute numbers of LSK (Lin-Sca-1+c-Kit+) cells significantly increased in asymptomatic 7 week old mutants, however as they develop symptoms, the frequency of LSK cells falls to wild-type levels
• the Lin-Sca-1-c-Kit+ (LK) compartment, containing more mature hematopoietic progenitors, is decreased
• adult bone marrow cells from mutants transplanted together with CD45.1+ wild-type bone marrow cells into lethally irradiated wild-type hosts fail to contribute to reconstitution of cells in the hosts while in noncompetitive reconstitution experiments, lethally irradiated mice die within 4 weeks after transplantation with mutant bone marrow cells, indicating loss of hematopoietic stem cell activity

immune system
• numbers of CD11b+Gr1+ cells are increased in the blood at 5 and 6 weeks of age but then decrease to below wild-type levels at 8 weeks of age
• CD11b+Gr1+ cells in the spleen and bone marrow are increased and show higher proliferation rates
• mutants exhibit presence of atypical myeloid infiltrates in a wide range of organs
• mutants are cytopenic for all blood leukocyte populations except for CD11b+Gr1+ cells
• absolute cell counts of B cells are decreased in the peripheral blood of mutants and numbers drop steadily over time
• immature NK cells (Lin-CD3-CD122+NK1.1+DX5+) are depleted in the bone marrow
• absolute cell counts of NK cells are decreased in the peripheral blood of mutants and numbers drop steadily over time
• absolute cell counts of T cells are decreased in the peripheral blood of mutants and numbers drop steadily over time
• common lymphoid progenitors (Lin-Flt3HighIL7RaHighSca-1Lowc-KitLow) are reduced in mutants
• numbers of CCR9+ lymphoid-primed multipotent progenitors are reduced in the bone marrow of mutants

Mouse Models of Human Disease
OMIM IDRef(s)
Myelodysplastic Syndrome; MDS 614286 J:176843


Mouse Genome Informatics
cn31
    Gt(ROSA)26Sortm1(CAG-Etv2,-GFP)Hkata/Gt(ROSA)26Sor+
Tg(Vav1-cre)A2Kio/0

involves: C57BL/6NCrlj * C57BL/10 * CBA/Ca * CBA/JNCrlj
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• fewer than expected mice are observed at P10

hematopoietic system
• disturbed hematopoietic development in adult hematopoietic progenitor cells
• severe in some mice
• reduced total number of colony forming units from bone marrow cells


Mouse Genome Informatics
cn32
    Cxcl12tm1.1Sjm/Cxcl12tm1.1Sjm
Tg(Vav1-cre)A2Kio/?

involves: CBA/Ca * C57BL/6 * C57BL/10
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
N
• normal cellularity and hematopoietic stem cell frequency (J:194748)
• bone marrow/spleen lineage composition is normal (J:194748)