mortality/aging
• 40% die within the first week of life, the remaining homozygotes survive into the third week of life
|
behavior/neurological
growth/size/body
nervous system
• increased numbers of proliferating Schwann cells are seen at P14
|
• at E10.5, in 14% of mutants both rhombomeres 3 and 5 are absent, in 57% fusion of cranial nerves V, VII, and VIII is seen, and in 29% fusion of cranial nerves IX and X is seen
|
• an abundance of undifferentiated Schwann cells are seen associated with individual axons of the sciatic nerve
(J:96641)
• at postnatal day 14 increased proliferation of Schwann cells is seen with 11.3 +/- 1.9% of the nuclei BrdU+ compared to less than 0.9% in wild-type mice
(J:99824)
|
• at P14 the sciatic nerve is thin and translucent
• the number of large and medium claiber axons is normal but, most lack myelin
|
• myelination is absent; however, no signs of demyelination are seen
(J:96641)
|
cellular
• increased numbers of proliferating Schwann cells are seen at P14
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Charcot-Marie-Tooth disease type 4E | DOID:0110195 |
OMIM:605253 |
J:96641 |