Analysis Tools
mortality/aging
|
• overall median life span is 180 days
• median life span in males is 196 days while median life span for females is 84 days
|
cellular
 |
• male germ cell depletion
• 3 fold decrease in testicular volume by 170 days of age
• phenotype is more severe than in mice homozygous for the Pot1b mutation alone
|
|
• increased apoptosis in proliferative tissues and cells (male germ cells, hematopoietic cells, intestinal cells)
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reproductive system
|
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• male germ cell depletion
• 3 fold decrease in testicular volume by 170 days of age
• phenotype is more severe than in mice homozygous for the Pot1b mutation alone
|
small testis
(
J:144553
)
|
|
• testicular atrophy
• phenotype is more severe than in mice homozygous for the Pot1b mutation alone
|
|
|
• near complete absence of all stages of spermatogenesis by 170 days of age
|
hematopoietic system
|
• primary bone marrow cells and splenocytes show increased numbers of fused chromosomes, significantly shorter telomeres, and increased numbers of signal free ends
|
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• 8 fold increase in apoptotic cells
|
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• bone marrow shows a striking absence of trilineage hematopoiesis
• striking decrease in the size and number of colonies of myeloid cells formed by bone marrow cells
|
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• bone marrow shows a striking absence of trilineage hematopoiesis which is almost completely replaced by stromal adipose tissue
• acute bone marrow failure
|
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• erythroid cells are reduced about 2 fold
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• granulocytes present are left-shifted with dysplatic features and immature blasts are present
|
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• mature granulocytes are reduced about 4 fold
|
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• seen in females by 79 days of age
|
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• by 79 days of age females develop severe leukopenia
• 60% of mice present with peripheral blood smears essentially devoid of leukocytes
|
|
• results suggest renewal of hematopoietic stem cells is severely impaired
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pigmentation
|
• with age mice develop hyperpigmentation around their tails, legs, paws, and snout
• phenotype is more severe than in mice homozygous for the Pot1b mutation alone
|
growth/size/body
|
• both sexes weigh less than littermate controls
• phenotype is more severe than in mice homozygous for the Pot1b mutation alone
|
digestive/alimentary system
|
• about a 25 fold increase in apoptotic cells in the intestinal crypt
• increase in apoptosis is accompanied by an increase in the anaphase bridge index
|
endocrine/exocrine glands
|
• about a 25 fold increase in apoptotic cells in the intestinal crypt
• increase in apoptosis is accompanied by an increase in the anaphase bridge index
|
small testis
(
J:144553
)
|
|
• testicular atrophy
• phenotype is more severe than in mice homozygous for the Pot1b mutation alone
|
immune system
|
• granulocytes present are left-shifted with dysplatic features and immature blasts are present
|
|
• mature granulocytes are reduced about 4 fold
|
|
• by 79 days of age females develop severe leukopenia
• 60% of mice present with peripheral blood smears essentially devoid of leukocytes
|
integument
|
• nail dystrophy
• phenotype is more severe than in mice homozygous for the Pot1b mutation alone
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| dyskeratosis congenita | DOID:2729 |
OMIM:PS127550 |
J:144553 | |
