mortality/aging
• of the 7 mice surviving the neonatal period, three mice die spontaneously at 4, 5, and 6 months
|
• the expected frequency of mice is not found at 2 weeks after birth, however the expected frequency is seen before birth at E18.5, with the majority of mice dying within 48 hours after birth
|
behavior/neurological
• 3 of the 7 surviving mice that are sick or dying are jittery
|
• mice show decreased activity prior to death
|
hematopoietic system
• increase in the number of common myeloid progenitors in the bone marrow
• however, frequency and total number of LSK cells are not different
|
• mild increase in bone marrow cellularity is seen in surviving mice
• however, no differences in the frequency of mature lymphoid or myeloid cells are seen and stem cells and myeloid cells from fetal liver are normal in number and homing to the bone morrow
|
• bone marrow cells exhibit a higher colony-forming ability that controls, with an increase in number of erythroid colonies (BFU-E)
|
• surviving adult mice show a small but significant increase in neutrophil count
• however, no differences in red blood cell, white blood cell, lymphocyte, monocyte, or platelet counts are seen
|
• the number of granulocytes is increased in surviving mice
• however, the number of erythroblasts and B cells are normal
|
homeostasis/metabolism
• some mice are cyanotic and gasp for air shortly after birth, filling the intestine with bubbles
|
growth/size/body
• some mice exhibit megaesophagous
(J:145994)
• both mice (one male and one female) sacrificed at 6 months show megaesophagus
(J:281813)
|
• 5 of the 7 surviving mice are mildly growth retarded and weigh 17% less at 2 months of age
|
immune system
• surviving adult mice show a small but significant increase in neutrophil count
• however, no differences in red blood cell, white blood cell, lymphocyte, monocyte, or platelet counts are seen
|
• the number of granulocytes is increased in surviving mice
• however, the number of erythroblasts and B cells are normal
|
digestive/alimentary system
• some mice exhibit megaesophagous
(J:145994)
• both mice (one male and one female) sacrificed at 6 months show megaesophagus
(J:281813)
|
reproductive system
• males fail to produce mature spermatozoa
(J:145994)
|
• all males are infertile
|
cellular
• males fail to produce mature spermatozoa
(J:145994)
|
cardiovascular system
N |
• E17.5-E18.5 hearts exhibit normal structure, normal chamber sizes, an intact atrial and ventricular septum, and normal valves
• surviving postnatal mice have normal cardiac structure and function
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
NOT | Jacobsen Syndrome | DOID:0111723 |
OMIM:147791 |
J:281813 |