Phenotypes Associated with This Genotype

Genotype
MGI:6472629

• Allelic Composition: Mecp2^em1Jlzn/Y
• Genetic Background: C57BL/6-Mecp2^em1Jlzn

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

mortality/aging

premature death ( J:296009 )

♂ • decrease in longevity

♂ • however, mice show increased longevity compared with Mecp2^tm1.1Irsf hemizygous mice

behavior/neurological

abnormal behavior ( J:296009 )

♂ • mice show progressive increase in phenotypic severity but delayed onset of severe phenotypes compared with Mecp2^tm1.1Irsf hemizygous mice

impaired contextual conditioning behavior ( J:296009 )

♂ • mice show decreased freezing in contextual and cued fear conditioning tasks indicating deficits in hippocampal- and amygdala-dependent learning

impaired cued conditioning behavior ( J:296009 )

♂ • mice show decreased freezing in contextual and cued fear conditioning tasks indicating deficits in hippocampal- and amygdala-dependent learning

abnormal motor learning ( J:296009 )

♂ • mice exhibit decreased motor learning on the rotarod

decreased thigmotaxis ( J:296009 )

♂ • mice show increased preference for the center zone of the arena, suggesting reduced anxiety

impaired coordination ( J:296009 )

♂ • mice exhibit impaired motor function in the accelerating rotating rod task

♂ • mice show impaired motor dysfunction on the forepaw wire hanging task, falling sooner off the wire compared to wild-type mice

abnormal gait ( J:296009 )

♂ • mice exhibit abnormal gait patterns showing decreased hind paw stride length and decreased longitudinal deviation

short stride length ( J:296009 )

♂ • decrease in hind paw stride length

decreased locomotor activity ( J:296009 )

♂ • mice are hypoactive with decreased distance traveled in the open field arena

seizures ( J:296009 )

♂ • 13-week old, but not 9-week old mice, show spontaneous seizure activity

environmentally induced seizures ( J:296009 )

♂ • during handling, a subset of mice show absence seizure-like events

nervous system

seizures ( J:296009 )

♂ • 13-week old, but not 9-week old mice, show spontaneous seizure activity

environmentally induced seizures ( J:296009 )

♂ • during handling, a subset of mice show absence seizure-like events

respiratory system

abnormal breathing pattern ( J:296009 )

♂ • mice show increased breathing irregularity

increased pulmonary respiratory rate ( J:296009 )

♂ • mice show increased basal breathing rate

apnea ( J:296009 )

♂ • mice show elevated incidence of apneas

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Rett syndrome		DOID:1206	OMIM:312750 OMIM:613454	J:296009