Mouse Genome Informatics
ot
    Mecp2tm1.1Bird/Y
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• variable progression of symptoms leads to rapid weight loss and death at about 54 days of age (J:67910)

behavior/neurological
• most mutants develop hindlimb clasping after 7 weeks of age (J:67910)
• at 8 weeks of age, males show increased latency to start moving and to reach the wall of the open field apparatus (J:165306)
• exhibit reduced spontaneous movement between 3 and 8 weeks of age (J:67910)
• in the gait onset test, males take longer to exit a circle at 3 and 8 weeks of age (J:165306)
• males exhibit a greater front-base width overall and a larger hind-base width than wild-type mice by 3 weeks of age, a sign of ataxia (J:165306)
• develop a stiff, uncoordinated gait between 3 and 8 weeks of age (J:67910)
• males exhibit a greater front-base width overall and a larger hind-base width than wild-type mice by 3 weeks of age (J:165306)
• stride length is shorter than in wild-type mice at 8 weeks of age but not at 3 weeks of age (J:165306)

growth/size/body
• frequently exhibit uneven wearing of the teeth (J:67910)
• Background Sensitivity: mutants mated to C57BL/6 (mixed 129P2/OlaHsd and C57BL/6 background) mice are substantially underweight from 4 weeks with full penatrance (J:67910)
• variable progression of symptoms leads to rapid weight loss and death at about 54 days of age (J:67910)
• Background Sensitivity: mutants on the mixed 129P2/OlaHsd and C57BL/6 background mated to 129 mice are the same weight as controls until 8 weeks of age, when they gain weight and become heavier than controls with an increase in deposited fat (J:67910)

respiratory system
• most mutants exhibit irregular breathing after 3-8 weeks of age (J:67910)

reproductive system
• testes of mutant males are always internal (J:67910)

craniofacial
• frequently exhibit misalignment of the jaws (J:67910)
• frequently exhibit uneven wearing of the teeth (J:67910)

endocrine/exocrine glands
• testes of mutant males are always internal (J:67910)

skeleton
• frequently exhibit misalignment of the jaws (J:67910)

hearing/vestibular/ear
• some mutants fail to respond to sound, although neither motor defects nor sensory defects are detected (J:67910)

homeostasis/metabolism
• 36% reduction in levels of norepinephrine within the vestibular nuclei (J:165306)
• males exhibit a 31%, 30%, and 61% decrease in norepinephrine in the prefrontal cortex at 3 weeks, the motor cortex at 3 weeks, and the cerebellum at 8 weeks of age (J:165306)
• mutants do not exhibit an increase in norepinephrine in the hippocampus from 3 to 8 weeks of age as seen in wild-type mice (J:165306)
• males exhibit a 36%, 30%, and 55% decrease in 5-HT in the prefrontal cortex at 3 weeks, the motor cortex at 3 weeks, and the cerebellum at 8 weeks of age, respectively (J:165306)
• males exhibit a 34% and 55% decrease in the 5-HT precursor, 5-HIAA in the prefrontal cortex at 3 weeks and the cerebellum at 8 weeks of age, respectively (J:165306)
• 5-HT turnover is increased in the prefrontal cortex and motor cortex (J:165306)
• 5-HT levels are decreased in the hippocampus at 8 weeks of age but not at 3 weeks (J:165306)

nervous system
• at 3 weeks of age, noradrenergic and serotonergic transmission is altered in the prefrontal and motor cortices (J:165306)
• during progression of disease, noradrenergic and serotonergic transmission is also altered in the hippocampus and cerebellum (J:165306)

Mouse Models of Human Disease
OMIM IDRef(s)
Rett Syndrome; RTT 312750 J:67910 , J:165306