Hereditary erythroblastic anaemia in the laboratory mouse

Abstract

SummaryHereditary erythroblastic anaemia was found in a homozygous mutant (hea/hea) of an inbred strain CFO, which originated from noninbred CF#1 mice from Carworth Inc. This newly-described anaemia is inherited as an autosomal recessive and is lethal at 15-25 days of age. Erythrocytes of anaemic mice show striking polychromasia, anisocytosis, and poikilocytosis. One of the most marked features of this anaemia is the presence of large numbers of nucleated cells, mainly orthochromatophilic erythroblasts and myeloid cells, in the circulation. They also include immature erythroid and myeloid cells. Many naked nuclei appear on smears from circulating blood of anaemic infants. Erythrocytes, haematocrit percentage, and haemoglobin content of older anaemic infants were only about 50% of those of the normal. Formation of erythroid, myeloid cells, and megakaryocytes in the bone marrow seems to be progressively affected by mutant alleles in the anaemic infants.

Developmental Abnormalities of the Thymus in hea/hea Mutant Mice

“…Severe anemia and other hematologic abnormalities in hea mice have already been reported [16][17][18], but the immunological defects have never been described. The present study demonstrated that the thymus became atrophic early in the life of hea mice and that differentiation from dn to dP cells was defective during thymocyte development.…”

“…These abnormalities are characterized by a reduced number of red blood cells, lower hematocrit and hemoglobin, and abundant circulating erythroblasts [16][17][18]. The mutation results in severe anemia, which is lethal at around 15 days of age.…”

Phenotype-Based Search of Natural Mutations Related to Hereditary Diseases Existing in a Closed Colony of Mice

“…Other mouse colonies have mutations differing from those in the Jcl:ICR colony as follows: pma (peroneal muscular atrophy) (from a CF1 closed colony, http:// www.informatics.jax.org/external/festing/mouse/docs/ CF1.shtml) [8,14] and Ttc7 fsn-hea (from CF1) [24]. These mutations have accidently appeared during breeding without any systematic crosses to look for mutations.…”

A Mutant Mouse with Severe Anemia and Skin Abnormalities Controlled by a New Allele of the Flaky Skin (fsn) Locus

“…The hea mutation arose spontaneously in the CFO strain at the Central Institute for Experimental Animals (Kawasaki, Japan) [13]. Three fsn mutations, fsn, fsn Jic and hea, which were independently discovered, should be useful for etiological studies of anemia and skin disorders.…”