pigmentation
|
• intensly pigmented around the pupil at E13
• pupillary area replaced by iris at E17-18
|
behavior/neurological
hypoactivity
(
J:82907
)
|
• reduced spontaneous activity at night
|
endocrine/exocrine glands
|
• enlarged lacrimal gland partially fills the orbit
|
growth/size
|
• slightly smaller than normal
|
reproductive system
|
• fertility is reduced at generation F3 and beyond, particularly for females
|
vision/eye
|
• enlarged lacrimal gland partially fills the orbit
|
|
• intensly pigmented around the pupil at E13
• pupillary area replaced by iris at E17-18
|
|
• no pupil at birth
|
|
• little growth or organization of the lens vesicle after E11
|
|
• ocular area slightly concave after eyes open
|
microphthalmia
(
J:5084
)
|
• eyes slightly smaller than normal at birth
• slightly smaller and uneven at E13
|
|
• abnormal growth of the eyecup after E13
• sensory and pigmented layers remain separated
|
|
• many retinal folds at birth
• partially fills the vitreous chamber
|
nervous system
|
• less cellularity in the substantia nigra
(J:82746)
• tyrosine hydroxylase immunoreactivity absent in the substantia nigra
(J:82746)
• decreased numbers of nigrostriatal fibers
(J:82746)
• at E12.5, mesencephalon dopaminergic neurons are normal
(J:82907)
• by the first day after birth there is a 91% reduction in neurons with tyrosine hydroxylase immunoreactivity
(J:82907)
• reduced activity in the ventral tegmental area but slower to develop
(J:82907)
• dorsal tier of the pars compacta of the substantia nigra retains tyrosine hydroxylase activity
(J:82907)
|
Mouse Models of Human Disease |
OMIM ID | Ref(s) | |
| Anterior Segment Mesenchymal Dysgenesis; ASMD | 107250 | J:5084 , J:82746 , J:82907 | |
