Analysis Tools
mortality/aging
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• mice by before 6 months of age
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• fewer than expected mice are born
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• mice exhibit signs of premature aging such as cachexia, graying hair, kyphosis, osteoporosis, accumulation of fat in the bone marrow, decreased hair follicles and thinner epidermis prior to premature death at less than 6 months of age
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reproductive system
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• impaired
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• degenerating in newborn mice
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cellular
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• more mouse embryonic fibroblasts accumulate at G2 than wild-type cells
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• in mouse embryonic fibroblasts
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• in mouse embryonic fibroblasts
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• embryonic and newborn brains exhibit apoptosis and replicative stress in replicating areas unlike in wild-type mice
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• treatment of mouse embryonic fibroblasts with PIKK inhibitors increased apoptosis compared to similarly treated wild-type cells
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• impaired
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• in mouse embryonic fibroblasts
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• mouse embryonic fibroblasts and E13.5 whole embryos exhibit replicative stress-initiated DNA damage response unlike wild-type cells
• adult tissues exhibit a marginal increase in replicative stress-initiated DNA damage response
• embryonic and newborn brains exhibit apoptosis and replicative stress in replicating areas unlike in wild-type mice
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• at metaphase in mouse embryonic fibroblasts unlike in wild-type cells
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skeleton
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• indentations of the sutures between the cranial bones are reduced compared to in wild-type mice
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• 6 of 9 mice exhibit a deficient closure of the fontanelles unlike in wild-type mice
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malocclusion
(
J:151542
)
micrognathia
(
J:151542
)
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• at 2 months, mice exhibit an accumulation of fat in the bone marrow unlike wild-type mice
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osteoporosis
(
J:151542
)
growth/size/body
malocclusion
(
J:151542
)
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• receding forehead
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• protruding
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• mice exhibit dysmorphic heads with receding forehead compared with wild-type mice
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• at 3 months, head circumference is reduced compared to in wild-type mice
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microcephaly
(
J:151542
)
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• severe
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nervous system
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• mice develop brain cysts unlike wild-type mice
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• at 6 weeks, mice exhibit severe loss of astrocytes at the corpus callosum unlike in wild-type mice
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homeostasis/metabolism
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• mouse embryonic fibroblasts and E13.5 whole embryos exhibit replicative stress-initiated DNA damage response unlike wild-type cells
• adult tissues exhibit a marginal increase in replicative stress-initiated DNA damage response
• embryonic and newborn brains exhibit apoptosis and replicative stress in replicating areas unlike in wild-type mice
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immune system
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• thymus weight is decreased and not restored by transfer of wild-type bone marrow
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liver/biliary system
embryo
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• placentas exhibit an accumulation of necrotic areas and an overall loss of cellularity unlike wild-type placenta
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respiratory system
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• protruding
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hematopoietic system
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• thymus weight is decreased and not restored by transfer of wild-type bone marrow
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pancytopenia
(
J:151542
)
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• in young mice, the number of long-term hematopoietic stem cells is high while the number of multipotent progenitors is low compared to in wild-type mice
• when bone marrow cells are transplanted into irradiated mice reconstitution of the granulocyte population occurs but stem cell niches are compromised
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craniofacial
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• indentations of the sutures between the cranial bones are reduced compared to in wild-type mice
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• 6 of 9 mice exhibit a deficient closure of the fontanelles unlike in wild-type mice
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malocclusion
(
J:151542
)
micrognathia
(
J:151542
)
|
• receding forehead
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• protruding
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• mice exhibit dysmorphic heads with receding forehead compared with wild-type mice
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endocrine/exocrine glands
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• thymus weight is decreased and not restored by transfer of wild-type bone marrow
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• degenerating in newborn mice
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pigmentation
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• graying
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integument
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• graying
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Seckel syndrome | DOID:0050569 |
OMIM:PS210600 |
J:151542 | |
