Phenotypes Associated with This Genotype

Genotype
MGI:5491040

• Allelic Composition: Mecp2^tm1.1Bird/Y; Tg(MECP2*R270X/GFP)AHzo/0
• Genetic Background: involves: 129P2/OlaHsd * FVB

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

mortality/aging

premature death ( J:194039 )

♂ • median lifespan of 85 days

growth/size/body

increased body weight ( J:194039 )

♂ • at 8 weeks of age

♂ • weight gain starts at 7 weeks of age and is more gradual than in mutant mice not carrying the transgene

nervous system

abnormal brain development ( J:194039 )

♂ • brain weight peaks at 7 weeks (1 week earlier than in controls) then declines

decreased brain weight ( J:194039 )

♂ • brain weight peaks at 7 weeks (1 week earlier than in controls) then declines

abnormal hippocampus morphology ( J:194039 )

♂ • decrease in the number of ATRX containing foci at 7 weeks of age and only a few foci are detected at 9 weeks of age

abnormal cerebral cortex morphology ( J:194039 )

♂ • decrease in the number of ATRX containing foci at 7 weeks of age and only a few foci are detected at 9 weeks of age

behavior/neurological

tremors ( J:194039 )

♂ • at all ages tested and severity increases with age

♂ • severity is reduced compared to mutant mice not carrying the transgene

abnormal gait ( J:194039 )

♂ • at all ages tested and severity increases with age

♂ • severity is reduced compared to mutant mice not carrying the transgene

integument

disheveled coat ( J:194039 )

♂ • at 8 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Rett syndrome		DOID:1206	OMIM:312750 OMIM:613454	J:194039