mortality/aging
• fewer than expected mice are produced from breeding heterozygotes
|
reproductive system
azoospermia
(
J:203140
)
• absence of spermatids and mature spermatozoa at 6 months
|
• reduced numbers due to apoptosis
|
small ovary
(
J:203140
)
• at 3 months
|
• spongiform changes with decreased number of dividing cells at 6 months
|
small testis
(
J:203140
)
• at 3 months
|
• at an early stages before spermatid generation
|
behavior/neurological
• at 12 to 18 months
|
• in an open field
|
• in an open field, mice exhibit decreased horizontal activity, movement number, total distance traveled, movement time, stereotype count, margin distance and center distance compared with wild-type mice
|
growth/size/body
• throughout adult life
|
immune system
• increased activation in the spleen
|
dermatitis
(
J:203140
)
• less prominent ulcerative dermatitis compared with wild-type mice
|
cellular
azoospermia
(
J:203140
)
• absence of spermatids and mature spermatozoa at 6 months
|
• increased mtDNA in the testis, ovary, heart and brain
|
• in the subsarcolemmal space
|
• in the subsarcolemmal space with irregular cristae membrane organization
|
• in follicular granulosa cell layers
|
• in mouse embryonic fibroblasts
|
• in mouse embryonic fibroblasts
|
• slightly decreased in muscle and heart cells without compensatory mitochondrial proliferation
• however, respiration in brain cells is normal
|
integument
dermatitis
(
J:203140
)
• less prominent ulcerative dermatitis compared with wild-type mice
|
endocrine/exocrine glands
• reduced numbers due to apoptosis
|
small ovary
(
J:203140
)
• at 3 months
|
• spongiform changes with decreased number of dividing cells at 6 months
|
small testis
(
J:203140
)
• at 3 months
|
hematopoietic system
• increased activation in the spleen
|
embryo
• in follicular granulosa cell layers
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Perrault syndrome | DOID:0050857 |
OMIM:233400 OMIM:614129 OMIM:614926 OMIM:615300 OMIM:PS233400 |
J:203140 |