Phenotypes Associated with This Genotype

Genotype
MGI:4839332

• Allelic Composition: Tg(CAG-RPS19*R62W)#Dmb/0; Tg(Prnp-GFP/cre)1Blw/0
• Genetic Background: involves: 129S6/SvEvTac * FVB/N

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:165876 )

• mice rarely survive beyond weaning

embryonic lethality during organogenesis, incomplete penetrance ( J:165876 )

• fewer than expected mice are present at E13.5

hematopoietic system

abnormal erythropoiesis ( J:165876 )

• at E13.5, the number of R4 and R5 cells is increased compared to in wild-type mice

• at E13.5, the number of R2 cells is decreased 4-fold in the bone marrow and 40-fold in the spleen compared to in wild-type mice

• R3 cells contain 2 nuclei unlike in wild-type mice

• more R4 and R5 cells are uncondensed, nucleated, and poorly hemoglobinized compared to in wild-type mice

• the number of R3 cells in G1 is reduced while the number of cells in the G2/M phase is increased compared to in wild-type mice

• at 4 to 6 weeks, the number of Ter119+ erythroid cells is increased 1.3-fold in the bone marrow and 3.7-fold in the spleen compared to in wild-type mice

• erythroid maturation is inhibited compared to in wild-type mice

anemia ( J:165876 )

• severe at E13.5; mild at 4 to 6 weeks

decreased erythroid progenitor cell number ( J:165876 )

• the number of BFU-E and CFU-E are decreased in fetal liver and bone marrow compared to in wild-type mice

decreased erythrocyte cell number ( J:165876 )

• at 4 to 6 weeks

decreased hematocrit ( J:165876 )

• at 4 to 6 weeks

decreased hemoglobin content ( J:165876 )

• at 4 to 6 weeks

reticulocytopenia ( J:165876 )

• 10-fold fewer at 4 to 6 weeks

growth/size/body

decreased body size ( J:165876 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Diamond-Blackfan anemia		DOID:1339	OMIM:PS105650	J:165876