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Phenotypes Associated with This Genotype
involves: 129S4/SvJae * BALB/c * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2tm1.1Jae mutation (2 available); any Mecp2 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• females appear normal for the first 4 months but show ataxic gait at later ages
• females appear normal for the first 4 months but show hypoactivity at later ages

• females appear normal for the first 4 months but gain weight at later ages

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
• treatment with LM22A-4, a small molecule BDNF loop domain mimetic that acts as a selective TrkB agonist, improves the respiratory function of mutants
• breathing dysfunction is characterized by increased frequency due to periods of tachypnea and increased apneas
• 20% of mutants exhibit apneas at 8 weeks of age and by 12 weeks of age, 50% of mutants exhibit apneas
• number of apneas increases between 8 and 12 weeks of age in mutants

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Rett syndrome DOID:1206 OMIM:312750

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.14
The Jackson Laboratory