Mouse Genome Informatics
ht
    Mecp2tm1.1Jae/Mecp2+
involves: 129S4/SvJae * BALB/c * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
behavior/neurological
• females appear normal for the first 4 months but show ataxic gait at later ages (J:67909)
• females appear normal for the first 4 months but show hypoactivity at later ages (J:67909)

growth/size/body
• 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 IDRef(s)
Rett Syndrome; RTT 312750 J:181342