Phenotypes associated with this allele

• Allele Symbol: Tmcc2^em1Tar
• Allele Name: endonuclease-mediated mutation 1, University of Warsaw
• Allele ID: MGI:7294527
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tmcc2^em1Tar/Tmcc2^em1Tar	involves: C57BL/6JTar * CBA/WTar	MGI:7294529

Genotype
MGI:7294529

hm1

• Allelic Composition: Tmcc2^em1Tar/Tmcc2^em1Tar
• Genetic Background: involves: C57BL/6JTar * CBA/WTar

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

hematopoietic system

extramedullary hematopoiesis ( J:325992 )

• in mature mice

anemia ( J:325992 )

• neonatal

macrocytic anemia ( J:325992 )

• severe at P4

abnormal erythroid progenitor cell morphology ( J:325992 )

• fewer enucleated CD71+TER119+ erythroid progenitor and precursor cells (CECs) and higher percentage of nucleated red blood cells in the blood at P4

• adult mice blood and spleen exhibit increased fraction of polychromatic (stage III) CECs and decreased fractions of orthochromatic (stage IV) CECs and reticulocytes (stage V) compared to adult mice

• however, normal numbers of CECs are present in the blood and bone marrow

increased erythroid progenitor cell number ( J:325992 )

• in the spleen of mature mice

abnormal erythrocyte morphology ( J:325992 )

• at P2, red blood cells exhibit nucleation at various maturation stages with dilated perinuclear space, double membranes, and nuclear cytoplasmic intrusions unlike wild-type cells

abnormal erythropoiesis ( J:325992 )

• partial maturation block or delay at the transition from polychromatic to orthochromatic erythroblast

decreased erythrocyte cell number ( J:325992 )

increased erythrocyte cell number ( J:325992 )

• in adult mice

decreased hematocrit ( J:325992 )

increased hematocrit ( J:325992 )

• in adult mice

decreased hemoglobin content ( J:325992 )

increased hemoglobin content ( J:325992 )

• in adult mice

decreased mean corpuscular hemoglobin concentration ( J:325992 )

increased mean corpuscular volume ( J:325992 )

• with increased macrocytes

• however, adult mice exhibit normal sized erythrocytes

increased nucleated erythrocyte cell number ( J:325992 )

• with occasional pyrenocytes and giant multinucleated cells

growth/size/body

decreased body size ( J:325992 )

• at P1 to P3

decreased body weight ( J:325992 )

• at P1 to P3

• however, adult mice exhibit normal body weights

integument

pallor ( J:325992 )

• at P1 to P3

• by P4, the discoloration is restricted to the ear lobes and paws

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:325992 )

N • mice exhibit low levels of bilirubin indicating hemolysis is unlikely to contribute to the phenotype

N • adult mice exhibit normal iron, ferritin, and serum biochemistry

skeleton

skeleton phenotype ( J:325992 )

N • mice exhibit normal skeletal phenotype