All Phenotypes Son<em1.1Bcgen> MGI Mouse

premature death ( J:347709 )

• mice show increased death after 300-400 days of age compared to wild-type mice when monitored for up to 700 days

prenatal lethality, incomplete penetrance ( J:347709 )

• fewer than the expected numbers of mice are obtained from heterozygous to wild-type matings

decreased femoral compact bone area ( J:347709 )

impaired spatial working memory ( J:347709 )

• in the Y-maze test, mice show a decrease in the percentage of spontaneous alternations and increased frequency of repeatedly visiting the same arm, indicating deficits in spatial short term working memory

increased thigmotaxis ( J:347709 )

• mice spend more time close to the wall and less time in the open field, indicating anxiety-like behavior

abnormal response to novel object ( J:347709 )

• in the novel object recognition test, mice do not show the innate preference for a novel object and spend less time exploring the novel object and more time with the familiar object, indicating impaired in novel object recognition

hyperactivity ( J:347709 )

• mice cover a greater distance and have a higher velocity in the open field test, indicating hyperactivity or anxiety-related behaviors

microcephaly ( J:347709 )

• mice exhibit a decrease in total brain volume, indicating microcephaly

decreased body length ( J:347709 )

• body length is about 90-94% of wild-type body length from 4-12 weeks of age and remains 86-90% of wild-type body length between ages 12 and 60 weeks

postnatal growth retardation ( J:347709 )

• mice show growth retardation which persists and worsens throughout life

slow postnatal weight gain ( J:347709 )

• mice gradually gain weight but not as much as wild-type mice; after 21 weeks of age, mice barely gain body weight and at 60 weeks of age, body weights are approximately only 58% of those wild-type mice

abnormal kidney morphology ( J:347709 )

• 37.73% of mice have a single kidney or one hypoplastic kidney, a similar penetrance of kidney issues as in humans with Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome

• minimal to mild tubular generation/necrosis and mild interstitial edema is seen in mice with one kidney

renal hypoplasia ( J:347709 )

• 18.9% of mice have two kidneys with one hypoplastic kidney

single kidney ( J:347709 )

• 18.9% of mice exhibit a single kidney

abnormal erythropoiesis ( J:347709 )

• erythroid progenitors with colony-forming potential (BFU-E and CFU-E) and erythroblasts up to S3 stage are normal in fetal livers, however a reduction in S4 and S5 stages is seen, indicating that early-stage erythroid progenitors are intact and onset of erythroid differentiation occurs normally but the late stage of terminal differentiation is impaired

abnormal B cell differentiation ( J:347709 )

• mice show perturbation in the early B cell maturation process within the spleen

• however, bone marrow B cells are mostly intact and not altered

• IgD^lo T1 cells are increased while IgD^hi T2 cells are decreased, indicating that within transitional B cells, the developing process from the T1 subset to the T2 subset is impaired, resulting in a blockage of transitional B cells from progressing to nave mature B cells

abnormal transitional stage B cell morphology ( J:347709 )

• CD93+ immature transitional B cells are increased in the spleen

decreased transitional stage T2 B cell number ( J:347709 )

• IgD^hi T2 cells are decreased

increased transitional stage T1 B cell number ( J:347709 )

• IgD^lo T1 cells are increased

impaired hematopoiesis ( J:347709 )

• hematopoietic stem and progenitor cell (HSPC) subpopulations are altered during fetal liver hematopoiesis, with early-stage HSPC lineage disposition toward the MegE lineage during fetal liver hematopoiesis

• terminal erythroid differentiation is impaired during fetal liver hematopoiesis

abnormal bone marrow cell morphology/development ( J:347709 )

• early-stage erythroid progenitors with colony-forming potential (pre-CFU-E) are increased whereas the next-stage progenitors, CFU-E, are decreased in the bone marrow, indicating a compromised ability to move through the erythroid lineage differentiation process

• however, no changes in granulocyte/monocyte precursors (pre-GM and GMP) and megakaryocyte progenitors (MkP) are seen

decreased bone marrow cell number ( J:347709 )

• bone marrow of 8-10 week old mice shows an overall reduction of bone marrow cellularity

abnormal bone marrow hematopoietic cell morphology ( J:347709 )

• bone marrow shows a reduction in early-stage HSPC population and altered lineage bias with expansion of myeloid-lineage-biased MPPs and reduction of lymphoid-lineaged-biased MPPs

• the proportion of LSK cells (early-stage HSPCs) is decreased in the bone marrow

• within the LSK population, an expansion of MegE-biased MPP2 and granulocyte/monocyte-biased (GM-biased) MPP3 and a reduction in lymphoid lineage-biased MPP4 in the bone marrow

decreased erythroid progenitor cell number ( J:347709 )

• the next-stage progenitors, CFU-E, are decreased in the bone marrow

increased mean corpuscular volume ( J:347709 )

• mice show high MCV levels, indicating macrocytosis

macrocytosis ( J:347709 )

thrombocytopenia ( J:347709 )

increased marginal zone B cell number ( J:347709 )

• analysis of CD93- naive B cells shows an increase in marginal zone (MZ) B cell fraction (CD23-CD21^hiIgM^hiIgD^low)

increased pre-B cell number ( J:347709 )

• IgD expression is slightly reduced within the CD43+ late-stage developing B cell population, resulting in increased small Pre-B fraction and decreased recirculating B fraction

decreased leukocyte cell number ( J:347709 )

• decrease in white blood cell counts, indicating leukopenia

decreased neutrophil cell number ( J:347709 )

decreased lymphocyte cell number ( J:347709 )

• mice show low levels of lymphocytes

• however, red blood cell counts, red cell distribution width, and hemoglobin levels are normal

decreased follicular B cell number ( J:347709 )

• analysis of CD93- naive B cells shows a reduced fraction of follicular B cells (CD23+CD21^intermediateIgM^loIgD^hi)

decreased monocyte cell number ( J:347709 )

decreased hematopoietic stem cell number ( J:347709 )

• the percentage of early-stage hematopoietic stem and progenitor cells (HSPCs) is decreased in fetal liver

• however, fetal liver cellularity is normal

• among the lineage-based multipotent progenitors (MPPs), lymphoid lineage-based MPPs (FLK2+CD150- LSK cells; MMP4) are decreased in both E14 and E16 fetal livers

abnormal fetal liver hematopoietic progenitor cell morphology ( J:347709 )

• mice show a mild increase in long-term hematopoietic stem cells (FLK2-CD150+CD48- LSK cells; LT-HSCs) in fetal livers

increased megakaryocyte-erythroid progenitor cell number ( J:347709 )

• among the lineage-based multipotent progenitors (MPPs), megakaryocyte/erythroid (MegE) lineage-biased MMPs (Flk2-CD150+CD48+ LSK cells; MPP2) are increased in both E14 and E16 fetal livers

• analysis of downstream myeloid progenitors shows that the megakaryocyte/erythroid progenitor (MEP) population is increased

abnormal naive B cell morphology ( J:347709 )

• CD93- naive mature B cells are decreased in the spleen

decreased IgA level ( J:347709 )

• mice show decreased IgA levels in the plasma, even in the steady state

decreased IgM level ( J:347709 )

• mice show decreased IgM levels in the plasma, even in the steady state

abnormal B cell differentiation ( J:347709 )

• mice show perturbation in the early B cell maturation process within the spleen

• however, bone marrow B cells are mostly intact and not altered

• IgD^lo T1 cells are increased while IgD^hi T2 cells are decreased, indicating that within transitional B cells, the developing process from the T1 subset to the T2 subset is impaired, resulting in a blockage of transitional B cells from progressing to nave mature B cells

abnormal transitional stage B cell morphology ( J:347709 )

• CD93+ immature transitional B cells are increased in the spleen

decreased transitional stage T2 B cell number ( J:347709 )

• IgD^hi T2 cells are decreased

increased transitional stage T1 B cell number ( J:347709 )

• IgD^lo T1 cells are increased

increased marginal zone B cell number ( J:347709 )

• analysis of CD93- naive B cells shows an increase in marginal zone (MZ) B cell fraction (CD23-CD21^hiIgM^hiIgD^low)

increased pre-B cell number ( J:347709 )

• IgD expression is slightly reduced within the CD43+ late-stage developing B cell population, resulting in increased small Pre-B fraction and decreased recirculating B fraction

decreased leukocyte cell number ( J:347709 )

• decrease in white blood cell counts, indicating leukopenia

decreased neutrophil cell number ( J:347709 )

decreased lymphocyte cell number ( J:347709 )

• mice show low levels of lymphocytes

• however, red blood cell counts, red cell distribution width, and hemoglobin levels are normal

decreased follicular B cell number ( J:347709 )

• analysis of CD93- naive B cells shows a reduced fraction of follicular B cells (CD23+CD21^intermediateIgM^loIgD^hi)

decreased monocyte cell number ( J:347709 )

abnormal naive B cell morphology ( J:347709 )

• CD93- naive mature B cells are decreased in the spleen

decreased IgA level ( J:347709 )

• mice show decreased IgA levels in the plasma, even in the steady state

decreased IgM level ( J:347709 )

• mice show decreased IgM levels in the plasma, even in the steady state

decreased femoral compact bone area ( J:347709 )

kyphoscoliosis ( J:347709 )

• 1-day-old pups and 8-week-old mice show curved spines, showing scoliosis and kyphosis, which becomes more severe with age, particularly for the cervical and thoracic curves

decreased trabecular bone volume ( J:347709 )

• distal femoral metaphysis shows a reduction in trabecular bone volume fraction

decreased bone trabecula number ( J:347709 )

• distal femoral metaphysis shows a decrease in trabecular number

increased bone trabecular spacing ( J:347709 )

• distal femoral metaphysis shows an increase in trabecular spacing

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

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

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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