behavior/neurological
• affects some homozygous mutant mice
|
growth/size/body
• due to shortened spine
|
hearing/vestibular/ear
N |
• three homozygotes and one heterozygote had normal hearing as assessed by acoustic brainstem response (ABR)
|
limbs/digits/tail
• tail vertebrae exhibit extreme variation in size and shape and irregular fusion
|
kinked tail
(
J:88762
)
reproductive system
• some homozygous females die giving birth
|
• homozygous matings produce small litters
|
skeleton
splayed ribs
(
J:88762
)
• although at 5 months of age, growth plates, intervertebral discs, mature bone and marrow appear histologically normal, at 11 months disc, cartilage, bone and marrow occur in a disorganized agglomeration, while in some animals growth plates remain normal in appearance
|
• tail vertebrae exhibit extreme variation in size and shape and irregular fusion
|
• thoracic vertebrae are compressed, misaligned and misshapen
|
• cervical vertebrae are compressed, misaligned and misshapen
|
• lumbar vertebrae are compressed, misaligned and misshapen; however, lower lumbar and sacral vertebrae appear normal
|
• vertebral compressions are observed in the cervical, thoracic and lumbar regions
|
• long bones have very thin cortical shells
|
• few trabeculae are visible on 5X magnified X-ray images of long bones
|
vision/eye
N |
• eyes of 3 homozygous mutants examined ophthalmoscopically appeared normal
|