All Phenotypes Mecp2<tm1.1Jae> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Mecp2^tm1.1Jae
targeted mutation 1.1, Rudolf Jaenisch
MGI:2158354

Summary

9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Mecp2^tm1.1Jae/Mecp2⁺	involves: 129S4/SvJae * BALB/c * C57BL/6	MGI:3624676
ht2	Mecp2^tm1.1Jae/Mecp2⁺	involves: 129S4/SvJae * C57BL/6	MGI:3043303
cn3	Col1a1^{tm8(CAG-BDNF)Jae}/Col1a1⁺ Mecp2^tm1.1Jae/Y Tg(Camk2a-cre)93Kln/0	involves: 129S4/SvJae * C57BL/6 * CBA/J	MGI:5306257
cn4	Bdnf^tm3Jae/Bdnf⁺ Mecp2^tm1.1Jae/Y Tg(Camk2a-cre)93Kln/0	involves: 129S4/SvJae * C57BL/6 * CBA/J	MGI:5306256
cn5	Bdnf^tm3Jae/Bdnf^tm3Jae Mecp2^tm1.1Jae/Y Tg(Camk2a-cre)93Kln/0	involves: 129S4/SvJae * C57BL/6 * CBA/J	MGI:5306255
cx6	Mapt^{tm1(Mecp2)Jae}/Mapt⁺ Mecp2^tm1.1Jae/Mecp2⁺	involves: 129S4/SvJae * C57BL/6	MGI:3043301
ot7	Mecp2^tm1.1Jae/Y	B6.Cg-Mecp2^tm1.1Jae	MGI:5499850
ot8	Mecp2^tm1.1Jae/Y	involves: 129S4/SvJae * BALB/c * C57BL/6	MGI:3624674
ot9	Mecp2^tm1.1Jae/Y	involves: 129S4/SvJae * C57BL/6	MGI:5306241

Allelic Composition	Mecp2^tm1.1Jae/Mecp2⁺
Genetic Background	involves: 129S4/SvJae * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Jae mutation (2 available); any Mecp2 mutation (41 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

behavior/neurological

ataxia ( J:67909 )

• females appear normal for the first 4 months but show ataxic gait at later ages

decreased locomotor activity ( J:67909 )

• females appear normal for the first 4 months but show hypoactivity at later ages

growth/size/body

increased susceptibility to age related obesity ( J:67909 )

• females appear normal for the first 4 months but gain weight at later ages

respiratory system

abnormal breathing pattern ( J:181342 )

• 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

tachypnea ( J:181342 )

• breathing dysfunction is characterized by increased frequency due to periods of tachypnea and increased apneas

apnea ( J:181342 )

• 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		DO ID	OMIM ID(s)	Ref(s)
Rett syndrome		DOID:1206	OMIM:312750 OMIM:613454	J:181342

Allelic Composition	Mecp2^tm1.1Jae/Mecp2⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Jae mutation (2 available); any Mecp2 mutation (41 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

behavior/neurological

decreased locomotor activity ( J:89593 )

growth/size/body

decreased body weight ( J:89593 )

• mutants are severely underweight from 4-5 weeks of age

nervous system

decreased brain weight ( J:89593 )

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

Allelic Composition	Col1a1^{tm8(CAG-BDNF)Jae}/Col1a1⁺ Mecp2^tm1.1Jae/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:
Col1a1^{tm8(CAG-BDNF)Jae} mutation (0 available); any Col1a1 mutation (163 available)
Mecp2^tm1.1Jae mutation (2 available); any Mecp2 mutation (41 available)
Tg(Camk2a-cre)93Kln mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:106973 )

• life span is significantly longer than in Mecp2 single hemizygous mice

behavior/neurological

behavior/neurological phenotype ( J:106973 )

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

nervous system

decreased brain weight ( J:106973 )

• decreased compared to wild-type littermates but modestly increased compared to Mecp2 single hemizygous mice

abnormal action potential ( J:106973 )

• firing rate is increased compared to Mecp2 single hemizygous mice

Allelic Composition	Bdnf^tm3Jae/Bdnf⁺ Mecp2^tm1.1Jae/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:
Bdnf^tm3Jae mutation (2 available); any Bdnf mutation (42 available)
Mecp2^tm1.1Jae mutation (2 available); any Mecp2 mutation (41 available)
Tg(Camk2a-cre)93Kln mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:106973 )

• life span is shorter than in Mecp2 single hemizygous mice but longer than in mutant mice homozygous for the Bdnf allele

Allelic Composition	Bdnf^tm3Jae/Bdnf^tm3Jae Mecp2^tm1.1Jae/Y Tg(Camk2a-cre)93Kln/0
Genetic Background	involves: 129S4/SvJae * C57BL/6 * CBA/J

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:106973 )

• life span is shorter than in Mecp2 single homozygous mice

behavior/neurological

lethargy ( J:106973 )

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

nervous system

abnormal action potential ( J:106973 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Rett syndrome		DOID:1206	OMIM:312750 OMIM:613454	J:106973

Allelic Composition	Mapt^{tm1(Mecp2)Jae}/Mapt⁺ Mecp2^tm1.1Jae/Mecp2⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mapt^{tm1(Mecp2)Jae} mutation (1 available); any Mapt mutation (430 available)
Mecp2^tm1.1Jae mutation (2 available); any Mecp2 mutation (41 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

behavior/neurological

behavior/neurological phenotype ( J:89593 )

N	• mutant activity as measured by exploratory response and total nocturnal activity does not differ from wild-type mice

growth/size/body

growth/size/body region phenotype ( J:89593 )

N	• mutants display normal body weight

nervous system

nervous system phenotype ( J:89593 )

N	• mutants display normal brain weight

Allelic Composition	Mecp2^tm1.1Jae/Y
Genetic Background	B6.Cg-Mecp2^tm1.1Jae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Jae mutation (2 available); any Mecp2 mutation (41 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:198551 )

N	• at P56, mice exhibit normal circulating total and LDL cholesterol and triglycerides

increased brain cholesterol level ( J:198551 )

• at P56

increased liver triglyceride level ( J:198551 )

• modest at P56

liver/biliary system

increased liver triglyceride level ( J:198551 )

• modest at P56

nervous system

increased brain cholesterol level ( J:198551 )

• at P56

Allelic Composition	Mecp2^tm1.1Jae/Y
Genetic Background	involves: 129S4/SvJae * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Jae mutation (2 available); any Mecp2 mutation (41 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:67909 )

• most die at about 10 weeks of age without obvious correlation between physical deterioration and time of death

behavior/neurological

abnormal behavior ( J:67909 )

• appear healthy for the first few weeks of age but develop abnormal behavior, such as nervousness, at 5 weeks of age

abnormal pilomotor reflex ( J:67909 )

• seen at 5 weeks of age

tremors ( J:67909 )

• exhibit body trembling at 5 weeks of age

• at late stages of disease, mutants tremble when handled

decreased locomotor activity ( J:67909 )

• seen at late stages of disease

nervous system

decreased brain size ( J:67909 )

decreased brain weight ( J:67909 )

abnormal hippocampus CA2 region morphology ( J:67909 )

• neurons in the CA2 region are 15-25% smaller than in controls at 9 weeks of age

abnormal neuron morphology ( J:67909 )

• 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

cachexia ( J:67909 )

• most exhibit signs of physical deterioration by 8 weeks of age and often begin to lose weight at late stages of disease

obese ( J:67909 )

• 8 of 17 become overweight and obese at 40-60 days of age

homeostasis/metabolism

abnormal body temperature ( J:67909 )

• frequently display cold extremities

respiratory system

abnormal respiration ( J:67909 )

• occasionally show heavy breathing at 5 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Rett syndrome		DOID:1206	OMIM:312750 OMIM:613454	J:67909

Allelic Composition	Mecp2^tm1.1Jae/Y
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Jae mutation (2 available); any Mecp2 mutation (41 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:106973 )

nervous system

decreased brain weight ( J:106973 )

abnormal hippocampus CA2 region morphology ( J:106973 )

• decrease size of CA2 neurons

abnormal olfactory bulb morphology ( J:106973 )

• decreased size of the olfactory glomeruli

abnormal action potential ( J:106973 )

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

abnormal brain wave pattern ( J:181311 )

• 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

lethargy ( J:106973 )

• develops at 6 weeks of age

abnormal motor learning ( J:181311 )

• impaired motor learning on a rotarod

decreased anxiety-related response ( J:181311 )

• in an elevated zero maze

impaired coordination ( J:181311 )

• on a rotarod

abnormal gait ( J:181311 )

• with splaying hind limbs upon movement

decreased locomotor activity ( J:181311 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Rett syndrome		DOID:1206	OMIM:312750 OMIM:613454	J:106973

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