Mouse Genome Informatics
cn1
    Mecp2tm1Jae/Y
Tg(Camk2a-cre)93Kln/0

involves: 129S4/SvJae * BALB/c * C57BL/6 * CBA/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
• mutants appear healthy for up to 3 months when they begin to exhibit an ataxic gait (J:67909)
• mutants appear healthy for up to 3 months when they begin to show reduced nocturnal activity (J:67909)

growth/size/body
• 7 of 11 become overweight and obese at 10 weeks of age or older (J:67909)
• mutants appear healthy for up to 3 months when they begin to gain weight (J:67909)

nervous system
• neurons in the CA2 region are 15-25% smaller than in controls at 7.5 months of age (J:67909)
• exhibit smaller neuronal bodies in the cortex and hippocampus but not in the cerebellum (J:67909)

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


Mouse Genome Informatics
cn2
    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
cn3
    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
cn4
    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
cn5
    Bdnftm3Jae/Bdnftm3Jae
Tg(Camk2a-cre)93Kln/0

involves: 129S4/SvJae * CBA/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
• food intake is 74% higher than in controls
• display increased inter-male aggression
• mutants by 4 weeks of age become agitated and active and appear stressed when handled
• mutants continue to appear agitated after the habituation period in a novel cage, with a 40% reduction in activity after an hour of habituation compared to 72% reduction in controls
• in a light/dark exploration test, mutants take 3.6 times longer to make the first transition from the dark to the light compartment, they spend half as much time in the light zone compared with controls and only make 35% the number of dark-to-light zone transitions compared to controls
• hindlimb clasping
• hyperactive when stressed

growth/size/body
• increased body weight is seen at 8 weeks of age and by 30 weeks, males and females are 80 and 150% heavier than controls, respectively
• 10% increase in naso-anal length compared with controls

homeostasis/metabolism
• abnormal starvation response in mutants as indicated by continued elevation of leptin, increased reduction in glucose levels, and attenuated NPY levels compared to controls after 48 hours of fasting
• glucose levels are 70% higher than in controls
• serum insulin levels are elevated 6-fold in obese mutants but normal in younger lean mutants
• serum leptin levels are elevated 15-fold in obese mutants but normal in younger lean mutants
• cholesterol levels are increased by 54% compared to controls

reproductive system
• sterility in obese females but not younger lean females, indicating that sterility is secondary to the effect of obesity (J:71969)

nervous system
• decreased size of CA2 neurons
• decreased size of the olfactory glomeruli


Mouse Genome Informatics
cn6
    Gt(ROSA)26Sortm2(RNAi:Braf)Rkuhn/Gt(ROSA)26Sor+
Tg(Camk2a-cre)93Kln/?

involves: 129S6/SvEvTac * C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
phenotype not analyzed