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Phenotypes Associated with This Genotype
Genotype
MGI:3823091
Allelic
Composition
Eef1a2wst/Eef1a2wst
Genetic
Background
B6C3Fe a/a-Eef1a2wst/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eef1a2wst mutation (1 available); any Eef1a2 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• average age of death is 28 days

behavior/neurological
• fine intention tremor over the entire body is visible by approximately 20 days of age
• increasing flacidity of the hind legs and an overall debilitated appearance follow the onset of tremor at 20 days of age

nervous system
• evident by 22 to 29 days of age
• at 22 to 29 days of age focal demyelination is found in the ventral columns of the spinal cord and in the cerebellar cortex

immune system
• consistent with lymphoid hypoplasia the ratio of thymic weight to body weight is much smaller than normal
• although the intestinal villi are normal in size, there is a progressive decline in gut IgA plasma cells and no detectable IgA plasma cells in the gut lamina propria and submucosae by 27 days of age
• consistent with lymphoid hypoplasia the ratio of spleen weight to body weight is less than half that of normal
• consistent with lymphoid hypoplasia the ratio of brachial lymph node weight to body weight is much smaller than normal
• by 28 days of age homozygotes have a threefold diminution in the number of circulating leukocytes, decreased ratios of spleen, thymus, and lymph nodes to body weight, few and small Peyer's patches, reduction in cellularity of the thymic cortex, and poorly developed follicles in the lymph nodes and splee
• the percentages of T and B cells is normal with the lymphoid hypoplasia not being restricted to a lymphocyte subpopulation
• less footpad inflammation than heterozygous controls in response to injected sheep red blood cells 4 days after priming

cellular
• 2 of 2 homozygotes exposed to 220R from a cesium irradiator then treated with colchicine have chromosomal damage in 80% of 30 metaphase cells from bone marrow cell suspensions while controls have only monor damage in 30% of the cells scored
• bone marrow cells from 23 to 28 day old homozygotes shows fourfold greater incidence of chromosomal damage, such as chromatid breaks, gaps, and fragments, than is found in heterozygous littermate controls

growth/size/body
• no weight increase after 20 days of age
• at 24 days of age there is a sudden onset emaciated appearance from the ribs caudally

hematopoietic system
• consistent with lymphoid hypoplasia the ratio of thymic weight to body weight is much smaller than normal
• although the intestinal villi are normal in size, there is a progressive decline in gut IgA plasma cells and no detectable IgA plasma cells in the gut lamina propria and submucosae by 27 days of age
• consistent with lymphoid hypoplasia the ratio of spleen weight to body weight is less than half that of normal

endocrine/exocrine glands
• consistent with lymphoid hypoplasia the ratio of thymic weight to body weight is much smaller than normal


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/25/2025
MGI 6.24
The Jackson Laboratory