Phenotypes Associated with This Genotype

Genotype
MGI:7367115

• Allelic Composition: Rpl5^Skax23-Jus/Rpl5⁺
• Genetic Background: 129S6.B6-Rpl5^Skax23-Jus

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

mortality/aging

premature death ( J:330162 )

• associated with severe pancytopenia

lethality throughout fetal growth and development, incomplete penetrance ( J:330162 )

• some mice are dead at E14.5

postnatal lethality, incomplete penetrance ( J:330162 )

embryonic lethality during organogenesis, incomplete penetrance ( J:330162 )

• some mice are dead at E12.5

prenatal lethality, incomplete penetrance ( J:330162 )

• fewer than expected mice are born

growth/size/body

embryonic growth retardation ( J:330162 )

• in some mice at E12.5

decreased birth body size ( J:330162 )

decreased body weight ( J:330162 )

postnatal growth retardation ( J:330162 )

fetal growth retardation ( J:330162 )

• at E14.5 but less prominent than at E12.5

hematopoietic system

macrocytic anemia ( J:330162 )

• at birth

• however, white blood cell and platelet counts were normal in some mice and adult mice exhibit no anemia or hematopoietic defects

abnormal proerythroblast morphology ( J:330162 )

• reduced in fetal livers at E14.5

decreased hemoglobin content ( J:330162 )

thrombocytopenia ( J:330162 )

• in one mouse that died during the postnatal period

pancytopenia ( J:330162 )

• severe

cardiovascular system

double outlet right ventricle ( J:330162 )

• in one mouse

ventricular septal defect ( J:330162 )

• in some mice

liver/biliary system

liver hypoplasia ( J:330162 )

• at E12.5 and E14.5 with fewer Ter119+ cells

• however, adult mice exhibit normal liver cellularity

embryo

embryonic growth retardation ( J:330162 )

• in some mice at E12.5

integument

pallor ( J:330162 )

• in some mice at E12.5 but less prominent at E14.5

limbs/digits/tail

short femur ( J:330162 )

• in newborn mice

kinked tail ( J:330162 )

• at birth with no evidence of endochondral ossification in the lower caudal vertebrae

skeleton

decreased cranium length ( J:330162 )

• in newborn mice

short femur ( J:330162 )

• in newborn mice

abnormal coccyx morphology ( J:330162 )

craniofacial

craniofacial phenotype ( J:330162 )

N • newborn mice exhibit normal craniofacial morphology

decreased cranium length ( J:330162 )

• in newborn mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Diamond-Blackfan anemia 6		DOID:0111879	OMIM:612561	J:330162