Mouse Genome Informatics
ht1
    Mecp2tm1.1Jae/Mecp2+
involves: 129S4/SvJae * BALB/c * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
• females appear normal for the first 4 months but show ataxic gait at later ages (J:67909)
• females appear normal for the first 4 months but show hypoactivity at later ages (J:67909)

growth/size
• females appear normal for the first 4 months but gain weight at later ages (J:67909)

respiratory system
• mutants at 10 weeks of age exhibit an abnormally high breathing frequency associated with marked decreases in expiratory time and total breath duration and a small but significant decrease in inspiratory time (J:181342)
• treatment with LM22A-4, a small molecule BDNF loop domain mimetic that acts as a selective TrkB agonist, improves the respiratory function of mutants (J:181342)
• breathing dysfunction is characterized by increased frequency due to periods of tachypnea and increased apneas (J:181342)
• 20% of mutants exhibit apneas at 8 weeks of age and by 12 weeks of age, 50% of mutants exhibit apneas (J:181342)
• number of apneas increases between 8 and 12 weeks of age in mutants (J:181342)

Mouse Models of Human Disease
OMIM IDRef(s)
Rett Syndrome; RTT 312750 J:181342


Mouse Genome Informatics
ht2
    Mecp2tm1.1Jae/Mecp2+
involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
(J:89593)

growth/size
• mutants are severely underweight from 4-5 weeks of age (J:89593)

nervous system
• 8 - 13 week old mutants display a 14-18% reduction in brain weight (J:89593)


Mouse Genome Informatics
cn3
    Bdnftm3Jae/Bdnftm3Jae
Mecp2tm1.1Jae/Y
Tg(Camk2a-cre)93Kln/0

involves: 129S4/SvJae * C57BL/6 * CBA/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• life span is shorter than in Mecp2 single homozygous mice (J:106973)

behavior/neurological
• dramatic reduction in wheel running activity at 4 weeks of age (J:106973)

nervous system
• at P30 the firing rate of layer 5 pyramidal neurons of the somatosensory cortex is reduced compared to controls (J:106973)

Mouse Models of Human Disease
OMIM IDRef(s)
Rett Syndrome; RTT 312750 J:106973


Mouse Genome Informatics
cn4
    Bdnftm3Jae/Bdnf+
Mecp2tm1.1Jae/Y
Tg(Camk2a-cre)93Kln/0

involves: 129S4/SvJae * C57BL/6 * CBA/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• life span is shorter than in Mecp2 single hemizygous mice but longer than in mutant mice homozygous for the Bdnf allele (J:106973)


Mouse Genome Informatics
cn5
    Col1a1tm8(CAG-BDNF)Jae/Col1a1+
Mecp2tm1.1Jae/Y
Tg(Camk2a-cre)93Kln/0

involves: 129S4/SvJae * C57BL/6 * CBA/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• life span is significantly longer than in Mecp2 single hemizygous mice (J:106973)

behavior/neurological
N
• overexpression of BDNF improves locomotor function compared to Mecp2 single hemizygous mice at 6 weeks of age (J:106973)

nervous system
• decreased compared to wild-type littermates but modestly increased compared to Mecp2 single hemizygous mice (J:106973)
• firing rate is increased compared to Mecp2 single hemizygous mice (J:106973)


Mouse Genome Informatics
cx6
    Mapttm1(Mecp2)Jae/Mapt+
Mecp2tm1.1Jae/Mecp2+

involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
N
• mutant activity as measured by exploratory response and total nocturnal activity does not differ from wild-type mice (J:89593)

growth/size
N
• mutants display normal body weight (J:89593)

nervous system
N
• mutants display normal brain weight (J:89593)


Mouse Genome Informatics
ot7
    Mecp2tm1.1Jae/Y
B6.Cg-Mecp2tm1.1Jae
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
N
• at P56, mice exhibit normal circulating total and LDL cholesterol and triglycerides (J:198551)

liver/biliary system


Mouse Genome Informatics
ot8
    Mecp2tm1.1Jae/Y
involves: 129S4/SvJae * BALB/c * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• most die at about 10 weeks of age without obvious correlation between physical deterioration and time of death (J:67909)

behavior/neurological
• appear healthy for the first few weeks of age but develop abnormal behavior, such as nervousness, at 5 weeks of age (J:67909)
• seen at 5 weeks of age (J:67909)
• exhibit body trembling at 5 weeks of age (J:67909)
• at late stages of disease, mutants tremble when handled (J:67909)
• seen at late stages of disease (J:67909)

nervous system
• neurons in the CA2 region are 15-25% smaller than in controls at 9 weeks of age (J:67909)
• cell bodies and nuclei or neurons in sections of hippocampus, cerebral cortex, and cerebellum are smaller in size and more densely packed (J:67909)

growth/size
• most exhibit signs of physical deterioration by 8 weeks of age and often begin to lose weight at late stages of disease (J:67909)
• 8 of 17 become overweight and obese at 40-60 days of age (J:67909)

homeostasis/metabolism
• frequently display cold extremities (J:67909)

respiratory system
• occasionally show heavy breathing at 5 weeks of age (J:67909)

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


Mouse Genome Informatics
ot9
    Mecp2tm1.1Jae/Y
involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
(J:106973)

nervous system
• decrease size of CA2 neurons (J:106973)
• decreased size of the olfactory glomeruli (J:106973)
• at P30 the firing rate of layer 5 pyramidal neurons of the somatosensory cortex is reduced compared to controls (J:106973)
• at P90, awake mice exhibit increased high-gamma frequency oscillation power compared with wild-type mice (J:181311)
• at P90, mice exhibit an increase in latency of P1, N1 and P2 peaks and reduction in the amplitudes of the N1 and P2 peaks of event-related potential compared with wild-type mice (J:181311)
• at P90, mice exhibit attenuated event-related power in both low- and high-frequency oscillation compared with wild-type mice (J:181311)
• at P90, mice exhibit less of an increase in event related phase-locking factor compared with wild-type mice (J:181311)

behavior/neurological
• in an elevated zero maze (J:181311)
• impaired motor learning on a rotarod (J:181311)
• on a rotarod (J:181311)
(J:181311)
• develops at 6 weeks of age (J:106973)
• with splaying hind limbs upon movement (J:181311)

Mouse Models of Human Disease
OMIM IDRef(s)
Rett Syndrome; RTT 312750 J:106973