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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Mecp2tm1.1Jae
targeted mutation 1.1, Rudolf Jaenisch
MGI:2158354
Summary 9 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Mecp2tm1.1Jae/Mecp2+ involves: 129S4/SvJae * BALB/c * C57BL/6 MGI:3624676
ht2
Mecp2tm1.1Jae/Mecp2+ involves: 129S4/SvJae * C57BL/6 MGI:3043303
cn3
Bdnftm3Jae/Bdnftm3Jae
Mecp2tm1.1Jae/Y
Tg(Camk2a-cre)93Kln/0
involves: 129S4/SvJae * C57BL/6 * CBA/J MGI:5306255
cn4
Bdnftm3Jae/Bdnf+
Mecp2tm1.1Jae/Y
Tg(Camk2a-cre)93Kln/0
involves: 129S4/SvJae * C57BL/6 * CBA/J MGI:5306256
cn5
Col1a1tm8(CAG-BDNF)Jae/Col1a1+
Mecp2tm1.1Jae/Y
Tg(Camk2a-cre)93Kln/0
involves: 129S4/SvJae * C57BL/6 * CBA/J MGI:5306257
cx6
Mapttm1(Mecp2)Jae/Mapt+
Mecp2tm1.1Jae/Mecp2+
involves: 129S4/SvJae * C57BL/6 MGI:3043301
ot7
Mecp2tm1.1Jae/Y B6.Cg-Mecp2tm1.1Jae MGI:5499850
ot8
Mecp2tm1.1Jae/Y involves: 129S4/SvJae * BALB/c * C57BL/6 MGI:3624674
ot9
Mecp2tm1.1Jae/Y involves: 129S4/SvJae * C57BL/6 MGI:5306241


Genotype
MGI:3624676
ht1
Allelic
Composition
Mecp2tm1.1Jae/Mecp2+
Genetic
Background
involves: 129S4/SvJae * BALB/c * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2tm1.1Jae mutation (2 available); any Mecp2 mutation (25 available)
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

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
• treatment with LM22A-4, a small molecule BDNF loop domain mimetic that acts as a selective TrkB agonist, improves the respiratory function of mutants
• breathing dysfunction is characterized by increased frequency due to periods of tachypnea and increased apneas
• 20% of mutants exhibit apneas at 8 weeks of age and by 12 weeks of age, 50% of mutants exhibit apneas
• number of apneas increases between 8 and 12 weeks of age in mutants

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




Genotype
MGI:3043303
ht2
Allelic
Composition
Mecp2tm1.1Jae/Mecp2+
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2tm1.1Jae mutation (2 available); any Mecp2 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological

growth/size/body
• mutants are severely underweight from 4-5 weeks of age

nervous system
• 8 - 13 week old mutants display a 14-18% reduction in brain weight




Genotype
MGI:5306255
cn3
Allelic
Composition
Bdnftm3Jae/Bdnftm3Jae
Mecp2tm1.1Jae/Y
Tg(Camk2a-cre)93Kln/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bdnftm3Jae mutation (1 available); any Bdnf mutation (15 available)
Mecp2tm1.1Jae mutation (2 available); any Mecp2 mutation (25 available)
Tg(Camk2a-cre)93Kln mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• life span is shorter than in Mecp2 single homozygous mice

behavior/neurological
• dramatic reduction in wheel running activity at 4 weeks of age

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

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




Genotype
MGI:5306256
cn4
Allelic
Composition
Bdnftm3Jae/Bdnf+
Mecp2tm1.1Jae/Y
Tg(Camk2a-cre)93Kln/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bdnftm3Jae mutation (1 available); any Bdnf mutation (15 available)
Mecp2tm1.1Jae mutation (2 available); any Mecp2 mutation (25 available)
Tg(Camk2a-cre)93Kln mutation (1 available)
phenotype observed in females
phenotype observed in males
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




Genotype
MGI:5306257
cn5
Allelic
Composition
Col1a1tm8(CAG-BDNF)Jae/Col1a1+
Mecp2tm1.1Jae/Y
Tg(Camk2a-cre)93Kln/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col1a1tm8(CAG-BDNF)Jae mutation (0 available); any Col1a1 mutation (88 available)
Mecp2tm1.1Jae mutation (2 available); any Mecp2 mutation (25 available)
Tg(Camk2a-cre)93Kln mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• life span is significantly longer than in Mecp2 single hemizygous mice

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

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




Genotype
MGI:3043301
cx6
Allelic
Composition
Mapttm1(Mecp2)Jae/Mapt+
Mecp2tm1.1Jae/Mecp2+
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mapttm1(Mecp2)Jae mutation (1 available); any Mapt mutation (401 available)
Mecp2tm1.1Jae mutation (2 available); any Mecp2 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• mutant activity as measured by exploratory response and total nocturnal activity does not differ from wild-type mice

growth/size/body
N
• mutants display normal body weight

nervous system
N
• mutants display normal brain weight




Genotype
MGI:5499850
ot7
Allelic
Composition
Mecp2tm1.1Jae/Y
Genetic
Background
B6.Cg-Mecp2tm1.1Jae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2tm1.1Jae mutation (2 available); any Mecp2 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
N
• at P56, mice exhibit normal circulating total and LDL cholesterol and triglycerides

liver/biliary system

nervous system




Genotype
MGI:3624674
ot8
Allelic
Composition
Mecp2tm1.1Jae/Y
Genetic
Background
involves: 129S4/SvJae * BALB/c * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2tm1.1Jae mutation (2 available); any Mecp2 mutation (25 available)
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
• seen 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 9 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
• 8 of 17 become overweight and obese at 40-60 days of age

homeostasis/metabolism
• frequently display cold extremities

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

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




Genotype
MGI:5306241
ot9
Allelic
Composition
Mecp2tm1.1Jae/Y
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2tm1.1Jae mutation (2 available); any Mecp2 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

nervous system
• decrease size of CA2 neurons
• decreased size of the olfactory glomeruli
• at P30 the firing rate of layer 5 pyramidal neurons of the somatosensory cortex is reduced compared to controls
• at P90, awake mice exhibit increased high-gamma frequency oscillation power compared with wild-type mice
• 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
• at P90, mice exhibit attenuated event-related power in both low- and high-frequency oscillation compared with wild-type mice
• at P90, mice exhibit less of an increase in event related phase-locking factor compared with wild-type mice

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

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





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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory