Mouse Genome Informatics
cn1
    Mapttm1(Setdb1)Akba/Mapt+
Mecp2tm1Jae/Y
Tg(Nes-cre)1Atp/0

involves: 129S4/SvJae * 129S7/SvEvBrd * C57BL/6 * FVB/N
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mice die between 8 weeks and 24 weeks of age

behavior/neurological


Mouse Genome Informatics
cn2
    Mapttm1(Setdb1)Akba/Mapttm1(Setdb1)Akba
Mecp2tm1Jae/Y
Tg(Nes-cre)1Atp/0

involves: 129S4/SvJae * 129S7/SvEvBrd * C57BL/6 * FVB/N
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mice die between 8 weeks and 24 weeks of age

behavior/neurological


Mouse Genome Informatics
cn3
    Mecp2tm1Jae/Y
Tg(Camk2a-cre)93Kln/0

involves: 129S4/SvJae * BALB/c * C57BL/6 * CBA/J
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mutants appear healthy for up to 3 months when they begin to exhibit an ataxic gait
• mutants appear healthy for up to 3 months when they begin to show reduced nocturnal activity

growth/size/body
• 7 of 11 become overweight and obese at 10 weeks of age or older
• mutants appear healthy for up to 3 months when they begin to gain weight

nervous system
• neurons in the CA2 region are 15-25% smaller than in controls at 7.5 months of age
• exhibit smaller neuronal bodies in the cortex and hippocampus but not in the cerebellum

Mouse Models of Human Disease
OMIM IDRef(s)
Rett Syndrome; RTT 312750 J:67909


Mouse Genome Informatics
cn4
    Mecp2tm1Jae/Y
Tg(Nes-cre)1Atp/0

involves: 129S4/SvJae * BALB/c * C57BL/6 * FVB/N
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most die at about 10 weeks of age without obvious correlation between physical deterioration and time of death

behavior/neurological
• appear healthy for the first few weeks of age but develop abnormal behavior, such as nervousness, at 5 weeks of age
• exhibit body trembling at 5 weeks of age
• at late stages of disease, mutants tremble when handled
• seen at late stages of disease

nervous system
• neurons in the CA2 region are 15-25% smaller than in controls at 8 weeks of age
• 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
• most exhibit signs of physical deterioration by 8 weeks of age and often begin to lose weight at late stages of disease
• 6 of 18 become overweight and obese at 40-60 days of age

respiratory system
• occasionally show heavy breathing at 5 weeks of age

Mouse Models of Human Disease
OMIM IDRef(s)
Rett Syndrome; RTT 312750 J:67909


Mouse Genome Informatics
cn5
    Mecp2tm1Jae/Mecp2+
Tg(Nes-cre)1Atp/0

involves: 129S4/SvJae * BALB/c * C57BL/6 * FVB/N
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• females appear normal for the first 4 months but show ataxic gait at later ages
• females appear normal for the first 4 months but show hypoactivity at later ages

growth/size/body
• females appear normal for the first 4 months but gain weight at later ages


Mouse Genome Informatics
cn6
    Mecp2tm1Jae/Y
Tg(Camk2a-Setdb1)1Akba/0
Tg(Nes-cre)1Atp/0

involves: 129S4/SvJae * C57BL/6 * FVB/N * SJL
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die between 8 and 40 weeks of age

behavior/neurological
• worse than in Mecp2tm1Jae/Y mice

growth/size/body


Mouse Genome Informatics
ot7
    Mecp2tm1Jae/Y
involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological

growth/size/body

mortality/aging
• mice die between 8 and 40 weeks of age