mortality/aging
|
• most mice die before 12 weeks of age
• Background Sensitivity: life span is reduced compared to mice on 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
|
cardiovascular system
|
• increase in the heart to body weight ratio
|
vision/eye
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
|
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
|
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
|
integument
|
• about 50% of mice that become ill by 3 weeks of age have reduced numbers and size of sebaceous glands in the skin
|
adipose tissue
|
• in about 50% of mice that become ill by 3 weeks of age
|
digestive/alimentary system
|
• cells show a reduction in the cytoplasm to nucleus ratio in mice that become ill by 3 weeks of age
|
renal/urinary system
|
• cells show a reduction in the cytoplasm to nucleus ratio in mice that become ill by 3 weeks of age
|
|
• at 2 months of age
|
skeleton
|
• mild defects
|
|
• defects in the shape of the skull vault
|
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 | |


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