Phenotypes associated with this allele

• Allele Symbol: Ccbe1^tm1Mlkn
• Allele Name: targeted mutation 1, Mark L Kahn
• Allele ID: MGI:5495674
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ccbe1^tm1Mlkn/Ccbe1^tm1Mlkn	either: B6.129-Ccbe1^tm1Mlkn or (involves: 129 * C57BL/6)	MGI:5495678

Genotype
MGI:5495678

hm1

• Allelic Composition: Ccbe1^tm1Mlkn/Ccbe1^tm1Mlkn
• Genetic Background: either: B6.129-Ccbe1^tm1Mlkn or (involves: 129 * C57BL/6)

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

mortality/aging

prenatal lethality ( J:196696 )

hematopoietic system

abnormal erythropoiesis ( J:196696 )

• primary and specific defect in definitive erythropoiesis in the fetal liver

• however, isolated fetal liver cells give rise to normal numbers of CFU-E, BFU-E and myeloid colonies

anemia ( J:196696 )

• severe midgestation anemia

decreased fetal derived definitive erythrocyte cell number ( J:196696 )

• proportion of erythroid Ter119+ cells is slightly reduced at E13.5

• decrease in the numbers of hemoglobin-rich mature erythrocytes at E15.5

decreased hematocrit ( J:196696 )

• severely decreased at E15.5

increased nucleated erythrocyte cell number ( J:196696 )

• increase in the proportion of nucleated erythrocytes at E15.5

decreased macrophage cell number ( J:196696 )

• reduced numbers of F4/80+ macrophages are seen in the fetal liver

abnormal macrophage physiology ( J:196696 )

• impaired association of isolated fetal liver macrophages with erythroblasts

liver/biliary system

abnormal liver morphology ( J:196696 )

• erythroblastic islands form but the numbers and function of the central macrophages of these islands may be reduced

• isolated intact erythroblastic islands have smaller numbers of Ter119+ erythroblasts adherent to individual F4/80+ macrophages

small liver ( J:196696 )

• Background Sensitivity: after E12.5, in about half of embryos on a mixed 129 and C57BL/6 background but in all embryos on an inbred C57BL/6 background

• mild size reduction at E12.5 but markedly reduced at E14.5 and E16.5

homeostasis/metabolism

edema ( J:196696 )

• severe midgestation anemia

integument

pallor ( J:196696 )

• progressive pallor starting at E14.5 and severe by E16.5

cellular

increased apoptosis ( J:196696 )

• at E14.5 and E15.5 in the fetal liver

immune system

decreased macrophage cell number ( J:196696 )

• reduced numbers of F4/80+ macrophages are seen in the fetal liver

abnormal macrophage physiology ( J:196696 )

• impaired association of isolated fetal liver macrophages with erythroblasts

absent lymphatic vessels ( J:196696 )

• in embryos

• however, patterning of blood vessels is normal