Phenotypes associated with this allele

• Allele Symbol: Eef1a2^wst
• Allele Name: wasted
• Allele ID: MGI:1857093
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Eef1a2^wst/Eef1a2^wst	B6C3Fe a/a-Eef1a2^wst/J	MGI:3823091
hm2	Eef1a2^wst/Eef1a2^wst	involves: HRS/J	MGI:3823277
hm3	Eef1a2^wst/Eef1a2^wst	Not Specified	MGI:3826516

Genotype
MGI:3823091

hm1

• Allelic Composition: Eef1a2^wst/Eef1a2^wst
• Genetic Background: B6C3Fe a/a-Eef1a2^wst/J

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

mortality/aging

premature death ( J:24753 )

• average age of death is 28 days

behavior/neurological

tremors ( J:24753 )

• fine intention tremor over the entire body is visible by approximately 20 days of age

paraparesis ( J:24753 )

• increasing flacidity of the hind legs and an overall debilitated appearance follow the onset of tremor at 20 days of age

nervous system

Purkinje cell degeneration ( J:6766 )

• evident by 22 to 29 days of age

demyelination ( J:6766 )

• 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

decreased thymus weight ( J:6766 )

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

decreased plasma cell number ( J:7903 )

• 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

decreased spleen weight ( J:6766 )

• consistent with lymphoid hypoplasia the ratio of spleen weight to body weight is less than half that of normal

small lymph nodes ( J:6766 )

• consistent with lymphoid hypoplasia the ratio of brachial lymph node weight to body weight is much smaller than normal

lymphoid hypoplasia ( J:6766 )

• 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

decreased susceptibility to type IV hypersensitivity reaction ( J:6766 )

• less footpad inflammation than heterozygous controls in response to injected sheep red blood cells 4 days after priming

cellular

increased cellular sensitivity to gamma-irradiation ( J:6766 )

• 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

chromosomal instability ( J:6766 )

• 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

slow postnatal weight gain ( J:6766 )

• no weight increase after 20 days of age

weight loss ( J:24753 )

• at 24 days of age there is a sudden onset emaciated appearance from the ribs caudally

hematopoietic system

decreased thymus weight ( J:6766 )

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

decreased plasma cell number ( J:7903 )

• 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

decreased spleen weight ( J:6766 )

• consistent with lymphoid hypoplasia the ratio of spleen weight to body weight is less than half that of normal

endocrine/exocrine glands

decreased thymus weight ( J:6766 )

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

Genotype
MGI:3823277

hm2

• Allelic Composition: Eef1a2^wst/Eef1a2^wst
• Genetic Background: involves: HRS/J

muscle

abnormal muscle morphology ( J:104855 )

• by 20 days of age there is a decline in muscle mass and by 27 days of age the ratio of muscle to body weight is 1.49 compared with 4.44 in heterozygotes

nervous system

gliosis ( J:104855 )

• although there is no evidence even at 29 days of age of microgliosis by CD45 staining, strong foci of GFAP staining in the anterior horn shows cervical, and to a lesser degree thoracic and lumbar, gliosis as early as 19 days of age

abnormal innervation pattern to muscle ( J:104855 )

• there is a rostrocaudal progressive retraction of motor nerve terminals

abnormal motor neuron morphology ( J:104855 )

• in addition to vacuolation, an abnormal accumulation of phosphorylated neurofilaments is found in the motor neurons of the anterior horn of the cervical spinal cord

motor neuron degeneration ( J:104855 )

abnormal neuromuscular synapse morphology ( J:104855 )

• as early as 17 days of age a small population of motor endplates is found to have no overlying motor nerve terminal, and this progresses such that by 27 days of age approximately 42% of endplates have no overlying motor nerve terminal

abnormal spinal cord ventral horn morphology ( J:104855 )

• at 28 days of age, but not 24 days of age, vacuolation is found in the anterior horn cells, but not at the lumbar level of the spinal cord

abnormal endplate potential ( J:104855 )

• at 23 days of age 20% of neuromuscular junctions in transverse abdominus muscles show weak synaptic transmission with random failures

• evoked endplate potentials in flexor digitorum brevis muscles do not show weak synaptic transmission until 25 days of age so there is progressive rostrocaudal deterioration in synaptic transmission

decreased neurotransmitter release ( J:104855 )

• diminished spontaneous miniature endplate potentials in transversus abdominus muscles at 25 days of age

abnormal neurotransmitter uptake ( J:104855 )

• FM1-43 and TRITC alpha bungarotoxin staining shows diminished uptake in a majority of endplates of transversus abdominus muscles from 25 day old homozygotes

behavior/neurological

impaired coordination ( J:104855 )

• from 21 days of age on homozygotes are progressively less able to stay on a rotarod for as long as normal littermate controls

Genotype
MGI:3826516

hm3

• Allelic Composition: Eef1a2^wst/Eef1a2^wst
• Genetic Background: Not Specified

hematopoietic system

thymus atrophy ( J:50410 )

• at 27 days of age the thymus is less than half the normal diameter, has a substantial increase in the number of apoptotic cells, but near-normal proportions of thymocyte subpopulations

immune system

thymus atrophy ( J:50410 )

• at 27 days of age the thymus is less than half the normal diameter, has a substantial increase in the number of apoptotic cells, but near-normal proportions of thymocyte subpopulations

endocrine/exocrine glands

thymus atrophy ( J:50410 )

• at 27 days of age the thymus is less than half the normal diameter, has a substantial increase in the number of apoptotic cells, but near-normal proportions of thymocyte subpopulations