Analysis Tools
mortality/aging
| N |
• Background Sensitivity: most survive to adulthood on a mixed 129S6/SvEvTac unlike on the C57BL/6J background
|
nervous system
| N |
• only rarely observe hydroencephaly on the mixed 129S6/SvEvTac background
|
hematopoietic system
|
• anemia tends to improve after 4 weeks of age
|
|
• erythroid hyperplasia in the marrow
|
|
• hemoglobin is reduced by at least one third in all ages examined (4, 8, 12, and 24 weeks of age)
• erythrocytes are hypochromic
|
anisocytosis
(
J:100202
)
microcytosis
(
J:100202
)
|
• erythrocytes are microcytic
|
|
• at all ages
|
|
• reticulocyte count is increased to variable degrees at all ages, indicating a proliferative anemia
|
|
• splenomegaly tends to improve with age
|
|
• red pulp is expanded and occupied by sheets of erythroid precursors
|
|
• expanded red pulp effaces the normal white pulp architecture
|
homeostasis/metabolism
|
• the erythrocyte zinc protoporphyrin IX to heme (Znpp/H) ratio is increased nearly 4-fold at 4 weeks of age, suggesting an iron metabolism defect
• total iron uptake in reticulocytes is decreased about 4-fold and reticulocytes incorporate much less iron into heme
• an average of 31% of iron is released from cells compared to an average of 3% in controls, indicating an endosomal iron processing defect in which there is inefficient transfer of endosomal iron to the cell
|
|
• bone marrow reticuloendothelial iron is present
|
|
• at 4 weeks of age serum iron, total iron binding concentration, and transferrin saturations are elevated, however these levels normalize over time
|
|
• elevated liver iron that becomes normalized over time, with iron predominately in hepatocytes rather than in Kupffer cells of the reticuloendothelial system
|
immune system
|
• at all ages
|
|
• splenomegaly tends to improve with age
|
|
• red pulp is expanded and occupied by sheets of erythroid precursors
|
|
• expanded red pulp effaces the normal white pulp architecture
|
reproductive system
 |
• sperm heads are present and appear normal, however there are no visible flagella
|
azoospermia
(
J:130396
)
|
|
• absence of mature spermatozoa in the seminiferous tubules and in the epididymis
|
|
|
• defect late in spermiogenesis
|
|
|
(J:100202)
(J:130396)
|
endocrine/exocrine glands
liver/biliary system
|
• slight hepatomegaly, not due to extramedullary hematopoiesis
|
|
• elevated liver iron that becomes normalized over time, with iron predominately in hepatocytes rather than in Kupffer cells of the reticuloendothelial system
|
cardiovascular system
|
• slight cardiomegaly, particularly at earlier ages, which tends to improve with age
|
cellular
|
|
• sperm heads are present and appear normal, however there are no visible flagella
|
azoospermia
(
J:130396
)
|
|
• absence of mature spermatozoa in the seminiferous tubules and in the epididymis
|
|
• beat frequency of tracheal epithelial cilia is about 25% lower than that of wild-type cilia, indicating impaired ciliary motility
• however sinus and tracheal epithelial cells have cilia with a normal ultrastructure
|
respiratory system
|
• beat frequency of tracheal epithelial cilia is about 25% lower than that of wild-type cilia, indicating impaired ciliary motility
• however sinus and tracheal epithelial cells have cilia with a normal ultrastructure
|
|
• accumulation of mucus in the sinuses, although no evidence of inflammation
|
|
• respiratory abnormalities
|
growth/size/body
| N |
• mice do not exhibit situs inversus
|
|
• slight cardiomegaly, particularly at earlier ages, which tends to improve with age
|
|
• slight hepatomegaly, not due to extramedullary hematopoiesis
|
|
• splenomegaly tends to improve with age
|
hearing/vestibular/ear
| N |
• mice do not exhibit otitis media
|
vision/eye
| N |
• mice do not exhibit retinitis pigmentosa
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| primary ciliary dyskinesia | DOID:9562 |
OMIM:PS244400 |
J:130396 | |
