Phenotypes associated with this allele

• Allele Symbol: Dnm2^Rbc12
• Allele Name: red blood cell mutant 12
• Allele ID: MGI:7378850
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dnm2^Rbc12/Dnm2^Rbc12	involves: C57BL/6	MGI:7378854
ht2	Dnm2^Rbc12/Dnm2^+	involves: C57BL/6	MGI:7378853

Genotype
MGI:7378854

hm1

• Allelic Composition: Dnm2^Rbc12/Dnm2^Rbc12
• Genetic Background: involves: C57BL/6

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

mortality/aging

embryonic lethality prior to organogenesis ( J:330452 )

• lethality before E8.5

Genotype
MGI:7378853

ht2

• Allelic Composition: Dnm2^Rbc12/Dnm2⁺
• Genetic Background: involves: C57BL/6

hematopoietic system

microcytic anemia ( J:330452 )

• mice exhibit a mild microcytic anemia with reduced mean cellular hemoglobin but normal mean cell hemoglobin concentration and red cell distribution width

• however, red cell number and reticulocyte percentage, and leukocyte and platelet counts are unchanged, spleen size and architecture appear normal, and response to hemolytic anemia induced by treatment with phenylhydrazine (PHZ) is unchanged

abnormal proerythroblast morphology ( J:330452 )

• spleens contain a 2-fold increase in proerythroblasts

• however, erythroid progenitor numbers are unchanged

abnormal erythrocyte morphology ( J:330452 )

• peripheral blood smears are relatively normal, with occasional target cells

decreased hematocrit ( J:330452 )

decreased hemoglobin content ( J:330452 )

• reduction in mean cellular hemoglobin

decreased mean corpuscular hemoglobin ( J:330452 )

• peripheral blood smears are relatively normal, with occasional hypochromic red cells

abnormal bone marrow cell physiology ( J:330452 )

• bone marrow cells from 10-week-old mice show a 50% reduction in transferrin uptake

• however, erythroid cells clear transferrin at a normal rate, suggesting that endosome recycling is unaffected

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:330452 )

N • total iron biding capacity and serum levels of iron, ferritin, and transferrin are normal and all measures of iron stores are normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
microcytic anemia		DOID:11252	OMIM:206200	J:330452