mortality/aging
• very few mice survive beyond 30 weeks of life
• Background Sensitivity: life span is increased compared to mice on an inbred C57BL/6J background but decreased compared to mice on a mixed 129, C57BL/6J and CD-1 background
|
• 35% of mice die during the first 3 weeks of life
|
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
|
homeostasis/metabolism
• at 5 months 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
|
digestive/alimentary system
• cells show a reduction in the cytoplasm to nucleus ratio in mice that become ill by 3 weeks 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 |