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Phenotypes Associated with This Genotype
Genotype
MGI:2656637
Allelic
Composition
Cebpbtm1Kish/Cebpbtm1Kish
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cebpbtm1Kish mutation (7 available); any Cebpb mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• ~35% of homozygotes die within 24 hrs after birth, with no significant increase in mortality thereafter
• the % of homozygotes is closer to the expected Mendelian ratio at 10 hrs after birth (22.4% vs 25%)
• homozygotes are obtained at a lower frequency than the expected Mendelian ratio, suggesting prenatal and perinatal lethality
• at 4 weeks, the % of homozygotes obtained is only 16.2% (J:45062)
• born homozygotes appear healthy and show no significant increase in mortality or histological abnormalities under SPF conditions; however, a number of homozygotes become compromised and die under conventional conditions (J:77003)

craniofacial
• downward tilted zygomatic arch; zygomatic arch deformation is limited to the zygoma and not involved with the zygomatic processes of the maxilla and/or the squamosal bone

reproductive system
• female homozygotes are infertile

skeleton
• downward tilted zygomatic arch; zygomatic arch deformation is limited to the zygoma and not involved with the zygomatic processes of the maxilla and/or the squamosal bone
• shorter and thinner clavicles
• however, mice exhibit normal limb joints
• narrow thoracic cage

immune system
• in vitro, LPS-stimulated mutant peritoneal macrophages and fibroblasts exhibit impaired G-CSF mRNA induction as well as reduced G-CSF biological activity
• in vitro, mutant activated peritoneal macrophages (but not neutrophils) exhibit suppressed production of superoxide and hydrogen peroxide relative to wild-type macrophages
• despite normal nitric oxide (NO) production, mutant peritoneal macrophages display severely impaired listericidal activity even when maximally activated in vitro with IFN-gamma plus LPS
• in vitro, mutant activated peritoneal macrophages exhibit extremely reduced tumoricidal and tumoristatic activity against P815 mastrocytoma target cells
• during listeriosis, homozygotes fail to retain L. monocytogenes effectively within their phagosomes, even when maximally activated in vitro with IFN-gamma plus LPS, with 84% of bacteria abnormally localized in the cytoplasm instead of in vacuoles
• macrophages stimulated with LPS, BLP, MALP-2, or CpG DNA produce more IL12p40 compared with similarly treated wild-type cells
• despite normal TNF and IFN-gamma induction, homozygotes succumb to sublethal doses of Listeria monocytogenes, with a 100% mortality rate within 5 days of i.p. inoculation and focal accumulation of neutrophils and macrophages in the liver and spleen
• in addition, homozygotes are highly susceptible to sublethal doses of Salmonella typhimurium, with a 100% mortality rate within 6 days of i.p. injection and a similar focal accumulation of inflammatory cells in the liver and spleen

adipose tissue
• at 20 hrs after birth, newborn homozygotes exhibit a significantly reduced intracytoplasmic lipid content in intercapsular brown adipocytes
• in mutant BAT, the presence of only small lipid droplets suggests that adipocyte differentiation is blocked at the immature adipocyte stage

cellular
• in response to hormonal stimulants, mutant embryonic fibroblasts show a significant reduction in adipogenic differentiation and accumulation of lipid droplets relative to wild-type fibroblasts
• during listeriosis, homozygotes fail to retain L. monocytogenes effectively within their phagosomes, even when maximally activated in vitro with IFN-gamma plus LPS, with 84% of bacteria abnormally localized in the cytoplasm instead of in vacuoles

hematopoietic system
• in vitro, LPS-stimulated mutant peritoneal macrophages and fibroblasts exhibit impaired G-CSF mRNA induction as well as reduced G-CSF biological activity
• in vitro, mutant activated peritoneal macrophages (but not neutrophils) exhibit suppressed production of superoxide and hydrogen peroxide relative to wild-type macrophages
• despite normal nitric oxide (NO) production, mutant peritoneal macrophages display severely impaired listericidal activity even when maximally activated in vitro with IFN-gamma plus LPS
• in vitro, mutant activated peritoneal macrophages exhibit extremely reduced tumoricidal and tumoristatic activity against P815 mastrocytoma target cells
• during listeriosis, homozygotes fail to retain L. monocytogenes effectively within their phagosomes, even when maximally activated in vitro with IFN-gamma plus LPS, with 84% of bacteria abnormally localized in the cytoplasm instead of in vacuoles

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
cleidocranial dysplasia DOID:13994 OMIM:119600
OMIM:216330
J:237461


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
08/13/2019
MGI 6.14
The Jackson Laboratory