Phenotypes Associated with This Genotype

Genotype
MGI:3624674

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

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

mortality/aging

premature death ( J:67909 )

♂ • most die at about 10 weeks of age without obvious correlation between physical deterioration and time of death

behavior/neurological

abnormal behavior ( J:67909 )

♂ • appear healthy for the first few weeks of age but develop abnormal behavior, such as nervousness, at 5 weeks of age

abnormal pilomotor reflex ( J:67909 )

♂ • seen at 5 weeks of age

tremors ( J:67909 )

♂ • exhibit body trembling at 5 weeks of age

♂ • at late stages of disease, mutants tremble when handled

decreased locomotor activity ( J:67909 )

♂ • seen at late stages of disease

nervous system

decreased brain size ( J:67909 )

♂

decreased brain weight ( J:67909 )

♂

abnormal hippocampus CA2 region morphology ( J:67909 )

♂ • neurons in the CA2 region are 15-25% smaller than in controls at 9 weeks of age

abnormal neuron morphology ( J:67909 )

♂ • cell bodies and nuclei or neurons in sections of hippocampus, cerebral cortex, and cerebellum are smaller in size and more densely packed

growth/size/body

cachexia ( J:67909 )

♂ • most exhibit signs of physical deterioration by 8 weeks of age and often begin to lose weight at late stages of disease

obese ( J:67909 )

♂ • 8 of 17 become overweight and obese at 40-60 days of age

homeostasis/metabolism

abnormal body temperature ( J:67909 )

♂ • frequently display cold extremities

respiratory system

abnormal respiration ( J:67909 )

♂ • occasionally show heavy breathing at 5 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Rett syndrome		DOID:1206	OMIM:312750 OMIM:613454	J:67909