Analysis Tools
mortality/aging
|
• about 60% of mice survive past 40 weeks of age
• Background Sensitivity: life span is increased compared to mice on an inbred C57BL/6J or a mixed 129 and C57BL/6J background
|
craniofacial
|
• mild defects
|
|
• defects in the shape of the skull vault
|
round head
(
J:170095
)
|
• rounder and shorter head
|
|
• rounder and shorter head
|
growth/size/body
|
• increase in the heart to body weight ratio
|
round head
(
J:170095
)
|
• rounder and shorter head
|
|
• rounder and shorter head
|
|
• by P5
• phenotype becomes worse with age
|
|
• by P5
• phenotype becomes worse with age
|
behavior/neurological
|
• characterized by increase in the frequency of repetitive movements and locomotion
|
|
• males fail to mate but are not infertile
• Background Sensitivity: crossing onto a CD1 background reduces the breeding problems
|
|
• develop epileptic seizures around 12 weeks of age
• incidence of mice with seizures increase with age until about 20 weeks of age
• seizures appear in response to handling
|
cardiovascular system
|
• increase in the heart to body weight ratio
|
|
• increase in the ejection fraction and a decrease in the end diastolic and systolic volumes
• however, no difference in systolic arterial blood pressure is detected compared to wild-type controls
|
vision/eye
neoplasm
|
• develop paragangliomas at a high frequency (20 of 25 mice) and with a short latency (about 5 months)
|
|
• develop pheochromocytomas at a high frequency (20 of 25 mice) and with a short latency (about 5 months)
|
|
• about 20% of tumor bearing mice show metastatis to distant tissue
|
|
• a few mice develop lung adenomas (grades II-III)
|
integument
|
• about 50% of mice that become ill by 3 weeks of age have reduced numbers and size of sebaceous glands in the skin
|
|
• melanocytic hyperplasia in the dermis
|
cellular
|
• most cells show a reduction in the cytoplasm to nucleus ratio in mice that become ill by 3 weeks of age
• this reduction is more evident in the kidney and in pancreatic acinar cells
|
|
• in mice that become ill by 3 weeks of age
|
|
• massive apoptosis in the spleen white pulp in mice that become ill by 3 weeks of age
|
immune system
|
• thymic disorganization and atrophy is seen in mice that become ill by 3 weeks of age
|
|
• in mice that become ill by 3 weeks of age
|
|
• decrease in the number of immature terminal deoxynucleotidyl transferase (TdT)-positive thymocytes in mice that become ill by 3 weeks of age
|
|
• all tissues with lymphoid aggregates show massive apoptosis in mice that become ill by 3 weeks of age
|
|
• in mice that become ill by 3 weeks of age
|
|
• massive apoptosis in the spleen white pulp in mice that become ill by 3 weeks of age
|
adipose tissue
|
• in about 50% of mice that become ill by 3 weeks of age
|
endocrine/exocrine glands
|
• in mice that become ill by 3 weeks of age
|
|
• cells show a reduction in the cytoplasm to nucleus ratio in mice that become ill by 3 weeks of age
|
|
• thymic disorganization and atrophy is seen in mice that become ill by 3 weeks of age
|
|
• in mice that become ill by 3 weeks of age
|
|
• decrease in the number of immature terminal deoxynucleotidyl transferase (TdT)-positive thymocytes in mice that become ill by 3 weeks of age
|
|
• about 50% of mice that become ill by 3 weeks of age have reduced numbers and size of sebaceous glands in the skin
|
|
• develop paragangliomas at a high frequency (20 of 25 mice) and with a short latency (about 5 months)
|
|
• develop pheochromocytomas at a high frequency (20 of 25 mice) and with a short latency (about 5 months)
|
renal/urinary system
|
• cells show a reduction in the cytoplasm to nucleus ratio in mice that become ill by 3 weeks of age
|
respiratory system
|
• a few mice develop lung adenomas (grades II-III)
|
nervous system
|
• develop epileptic seizures around 12 weeks of age
• incidence of mice with seizures increase with age until about 20 weeks of age
• seizures appear in response to handling
|
|
• increase in the number of astrocytes in the brain at 8 weeks of age, independent of seizures
|
pigmentation
|
• melanocytic hyperplasia in the dermis
|
muscle
|
• increase in the ejection fraction and a decrease in the end diastolic and systolic volumes
• however, no difference in systolic arterial blood pressure is detected compared to wild-type controls
|
skeleton
|
• mild defects
|
|
• defects in the shape of the skull vault
|
digestive/alimentary system
|
• cells show a reduction in the cytoplasm to nucleus ratio in mice that become ill by 3 weeks of age
|
hematopoietic system
|
• in mice that become ill by 3 weeks of age
|
|
• massive apoptosis in the spleen white pulp in mice that become ill by 3 weeks of age
|
|
• thymic disorganization and atrophy is seen in mice that become ill by 3 weeks of age
|
|
• in mice that become ill by 3 weeks of age
|
|
• decrease in the number of immature terminal deoxynucleotidyl transferase (TdT)-positive thymocytes in mice that become ill by 3 weeks of age
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| cardiofaciocutaneous syndrome | DOID:0060233 |
OMIM:PS115150 |
J:170095 | |
