Phenotypes Associated with This Genotype

Genotype
MGI:2683844

• Allelic Composition: Blm^tm1Ches/Blm^tm1Ches
• Genetic Background: involves: 129S6/SvEvTac * NIH Black Swiss

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:50843 )

• no homozygotes born from crosses of heterozygous parents

• embryonic death occurred between E13.5 and E14.5

cardiovascular system

abnormal blood volume ( J:50843 )

• lack of blood circulating through fetus and yolk sac by E13.5

cellular

abnormal cell morphology ( J:50843 )

• presence of micronuclei in embryonic fibroblasts

abnormal apoptosis ( J:50843 )

• increased apoptosis in epiblast from E6.5 to E8.0

embryo

embryonic growth retardation ( J:50843 )

• developmental delay seen by E9.5

decreased embryo size ( J:50843 )

• by E10.5

• body proportions normal however

growth/size/body

embryonic growth retardation ( J:50843 )

• developmental delay seen by E9.5

decreased embryo size ( J:50843 )

• by E10.5

• body proportions normal however

hematopoietic system

anemia ( J:50843 )

abnormal proerythroblast morphology ( J:50843 )

abnormal erythrocyte morphology ( J:50843 )

• increased presence of nuclear fragments

• reduced numbers of red blood cells

• by E9.5

• blood volume also reduced by E12.5

abnormal erythropoiesis ( J:50843 )

macrocytosis ( J:50843 )

• red blood cells were enlarged

abnormal reticulocyte morphology ( J:50843 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bloom syndrome		DOID:2717	OMIM:210900	J:50843