Analysis Tools
mortality/aging
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• about half of mice die within 1 month after birth and most of them die before 6 months of age due to health conditions including decreased body weight, inactivity, and hair loss
• health deteriorates quickly at 4 months of age probably due to lack of movement and anemia
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growth/size/body
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• body weight is significantly lower than that in control mice during the first month of life
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• mice start exhibiting growth retardation at P7
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behavior/neurological
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• total (four limb) grasp strength is significantly less than that in control mice
• however, grasp strength of the forelimbs is normal
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• mice with disability are unable to stand on their hindlimbs
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• mice become inactive between P7 and P20; overall, 82% of mice become visually abnormal with inactivity starting at P7
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• most adult male and female mice are unable to mate due to abnormal physical conditions and behaviors
• however, a small number of healthy male mice are able to sire offspring with an average litter size similar to that of wild-type males
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limbs/digits/tail
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• starting at 6-8 weeks of age, hindfeet appear deformed and point backwards
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• at P0.5, hindlimb phalanges show premature ossification
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• adult mice exhibit smaller and thinner hindlimbs than wild-type and heterozygous control mice
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• cartilages of the ankle joint become ossified at P0.5
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• cartilages of the knee joint become ossified at P0.5
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short femur
(
J:349843
)
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• adult femur length is significantly smaller than that in control mice
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• at P0.5, patella show premature ossification
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• H&E staining of the rectus femoris shows that boundaries of muscle fibers become unclear while the number of cell nuclei per unit area is increased
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• mice show defective hindlimb development after birth
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skeleton
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• at P0.5, hindlimb phalanges show premature ossification
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• cartilages of the ankle joint become ossified at P0.5
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• cartilages of the knee joint become ossified at P0.5
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short femur
(
J:349843
)
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• adult femur length is significantly smaller than that in control mice
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• at P0.5, patella show premature ossification
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• mean femoral bone mineral density is significantly lower than that in control mice
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• in vitro, hindlimb bud mesenchymal cells from E11.5 embryos show increased ability to undergo chondrogenic differentiation, resulting in more chondrogenic nodes than in wild-type limb bud cells
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hematopoietic system
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• at 12, but not at 5, weeks of age, hemoglobin is significantly lower than that in heterozygous controls
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• at 12, but not at 5, weeks of age, neutrophil number is significantly higher than that in heterozygous controls
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• at 12, but not at 5, weeks of age, lymphocyte number is significantly lower than that in heterozygous controls
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• at 5 and at 12 weeks of age, reticulocyte number is significantly lower than that in heterozygous controls
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immune system
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• at 12, but not at 5, weeks of age, neutrophil number is significantly higher than that in heterozygous controls
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• at 12, but not at 5, weeks of age, lymphocyte number is significantly lower than that in heterozygous controls
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homeostasis/metabolism
| N |
• adult mice exhibit normal levels of thyroid stimulating hormone, free triiodothyronine, free thyroxine, triiodothyronine and thyroxine relative to wild-type controls
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• at 12 weeks of age, erythropoietin level is significantly lower than that in heterozygous controls
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muscle
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• H&E staining of the rectus femoris shows that boundaries of muscle fibers become unclear while the number of cell nuclei per unit area is increased
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integument
reproductive system
 N |
• all adult males exhibit normal testis and epididymis size and histology, suggesting normal spermatogenesis
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