Phenotypes Associated with This Genotype

Genotype
MGI:3624676

• Allelic Composition: Mecp2^tm1.1Jae/Mecp2⁺
• Genetic Background: involves: 129S4/SvJae * BALB/c * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

ataxia ( J:67909 )

♀ • females appear normal for the first 4 months but show ataxic gait at later ages

decreased locomotor activity ( J:67909 )

♀ • females appear normal for the first 4 months but show hypoactivity at later ages

growth/size/body

increased susceptibility to age related obesity ( J:67909 )

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

respiratory system

abnormal breathing pattern ( J:181342 )

♀ • 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

tachypnea ( J:181342 )

♀ • breathing dysfunction is characterized by increased frequency due to periods of tachypnea and increased apneas

apnea ( J:181342 )

♀ • 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 OMIM:613454	J:181342