behavior/neurological
|
|
• females appear normal for the first 4 months but show ataxic gait at later ages
(J:67909)
|
hypoactivity
(
J:67909
)
|
|
• females appear normal for the first 4 months but show hypoactivity at later ages
(J:67909)
|
growth/size
|
|
• females appear normal for the first 4 months but gain weight at later ages
(J:67909)
|
respiratory system
|
|
• mutants at 10 weeks of age exhibit an abnormally high breathing frequency associated with marked decreases in expiratory time and total breath duration and a small but significant decrease in inspiratory time
(J:181342)
• treatment with LM22A-4, a small molecule BDNF loop domain mimetic that acts as a selective TrkB agonist, improves the respiratory function of mutants
(J:181342)
|
|
|
• breathing dysfunction is characterized by increased frequency due to periods of tachypnea and increased apneas
(J:181342)
|
|
|
• 20% of mutants exhibit apneas at 8 weeks of age and by 12 weeks of age, 50% of mutants exhibit apneas
(J:181342)
• number of apneas increases between 8 and 12 weeks of age in mutants
(J:181342)
|
Mouse Models of Human Disease |
OMIM ID | Ref(s) | |
| Rett Syndrome; RTT | 312750 | J:181342 | |
