behavior/neurological
craniofacial
short snout
(
J:149960
)
vision/eye
limbs/digits/tail
• thicker digits
|
short limbs
(
J:149960
)
• shortened limbs become more noticeable with age
|
thick tail
(
J:149960
)
adipose tissue
growth/size/body
short snout
(
J:149960
)
skeleton
• greater whole body bone mineral density
|
hearing/vestibular/ear
• ABR indicative of severe hearing loss
|
reproductive system
• although both females and males reproduce, small litters and poor breeding have occurred
|
muscle
• focal muscle degeneration is found in an 8 month old
|
nervous system
• an 8 month old homozygote shows peripheral nerve degeneration with macrophage infiltration and a 14 month old shows peripheral nerve degeneration with spinal arthritis and vacuoles in the connective tissue around the spine
|
cellular
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
mucopolysaccharidosis VI | DOID:12800 |
OMIM:253200 |
J:149960 |