All Phenotypes Mecp2<tm1.1Bird> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Mecp2^tm1.1Bird
targeted mutation 1.1, Adrian Bird
MGI:2137311

Summary

21 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mecp2^tm1.1Bird/Mecp2^tm1.1Bird	involves: 129P2/OlaHsd * C57BL/6	MGI:3624717
ht2	Mecp2^tm1.1Bird/Mecp2⁺	B6.129P2(C)-Mecp2^tm1.1Bird/J	MGI:6098753
ht3	Mecp2^tm1.1Bird/Mecp2⁺	involves: 129P2/OlaHsd	MGI:3817236
ht4	Mecp2^tm1.1Bird/Mecp2⁺	involves: 129P2/OlaHsd * C57BL/6	MGI:3624718
cx5	Mecp2^tm1.1Bird/Y Sum5^M1Jus/Sum5⁺	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J	MGI:5499848
cx6	Mecp2^tm1.1Bird/Y Sqle^Sum3-Jus/Sqle⁺	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J	MGI:5499839
cx7	Mecp2^tm1.1Bird/Y Sum1^M1Jus/Sum1⁺	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J	MGI:5499841
cx8	Mecp2^tm1.1Bird/Y Sum2^M1Jus/Sum2⁺	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J	MGI:5499846
cx9	Mecp2^tm1.1Bird/Y Sum4^M1Jus/Sum4⁺	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J	MGI:5499847
cx10	Mbd2^tm1Bh/Mbd2^tm1Bh Mecp2^tm1.1Bird/Y	involves: 129P2/OlaHsd * C57BL/6	MGI:3624722
cx11	Mecp2^tm1.1Bird/Y Tg(MECP2)1Hzo/0	involves: 129P2/OlaHsd * FVB	MGI:3817185
cx12	Mecp2^tm1.1Bird/Y Tg(MECP2*R270X/GFP)AHzo/0	involves: 129P2/OlaHsd * FVB	MGI:5491040
cx13	Mecp2^tm1.1Bird/Y Tg(MECP2*G273X/GFP)AHzo/0	involves: 129P2/OlaHsd * FVB	MGI:5491041
ot14	Mecp2^tm1.1Bird/Y	B6.129P2(C)-Mecp2^tm1.1Bird/J	MGI:6098752
ot15	Mecp2^tm1.1Bird/Y	involves: 129P2/OlaHsd	MGI:3817230
ot16	Mecp2^tm1.1Bird/Y	involves: 129P2/OlaHsd * 129S6/SvEvTac	MGI:5499849
ot17	Mecp2^tm1.1Bird/Y	involves: 129P2/OlaHsd * C57BL/6	MGI:3624713
ot18	Mecp2^tm1.1Bird/Y	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:3817273
ot19	Mecp2^tm1.1Bird/Y	involves: 129P2/OlaHsd * C57BL/6J * FVB/N	MGI:4999648
ot20	Mecp2^tm1.1Bird/Y	involves: 129P2/OlaHsd * CD-1	MGI:7266284
ot21	Mecp2^tm1.1Bird/Y	involves: 129P2/OlaHsd * FVB	MGI:5491051

Allelic Composition	Mecp2^tm1.1Bird/Mecp2^tm1.1Bird
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Bird mutation (1 available); any Mecp2 mutation (38 available)

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

mortality/aging

premature death ( J:67910 )

• variable progression of symptoms leads to rapid weight loss and death at about 54 days of age

behavior/neurological

limb grasping ( J:67910 )

• most mutants develop hindlimb clasping after 7 weeks of age

abnormal gait ( J:67910 )

• develop a stiff, uncoordinated gait between 3 and 8 weeks of age

decreased locomotor activity ( J:67910 )

• exhibit reduced spontaneous movement between 3 and 8 weeks of age

growth/size/body

abnormal tooth morphology ( J:67910 )

• frequently exhibit uneven wearing of the teeth

weight loss ( J:67910 )

• variable progression of symptoms leads to rapid weight loss and death at about 54 days of age

respiratory system

abnormal breathing pattern ( J:67910 )

• most mutants exhibit irregular breathing after 3-8 weeks of age

craniofacial

abnormal jaw morphology ( J:67910 )

• frequently exhibit misalignment of the jaws

abnormal tooth morphology ( J:67910 )

• frequently exhibit uneven wearing of the teeth

skeleton

abnormal jaw morphology ( J:67910 )

• frequently exhibit misalignment of the jaws

abnormal tooth morphology ( J:67910 )

• frequently exhibit uneven wearing of the teeth

hearing/vestibular/ear

abnormal hearing physiology ( J:67910 )

• some mutants fail to respond to sound, although neither motor defects nor sensory defects are detected

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Rett syndrome		DOID:1206	OMIM:312750 OMIM:613454	J:67910

Allelic Composition	Mecp2^tm1.1Bird/Mecp2⁺
Genetic Background	B6.129P2(C)-Mecp2^tm1.1Bird/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Bird mutation (1 available); any Mecp2 mutation (38 available)

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

cardiovascular system

abnormal heart rate ( J:241788 )

• 9 month old females exhibit erratic heart rate patterns, with sudden pauses in the regular rhythm of the heart rate and bradycardic events

increased heart rate variability ( J:241788 )

decreased heart rate ( J:241788 )

• mice have a higher incidence of sudden bradycardic events

• 28 month old females develop a decreased heart rate which is not seen in 9 month old mice

irregular heartbeat ( J:241788 )

• 9 month old females present with a variety of spontaneous cardiac arrhythmias ranging from sinus pauses and atrioventricular block to aberrant ventricular contractions

• non-sustained ventricular arrhythmias are seen in 9 month old females

ventricular premature beat ( J:241788 )

• 9 month old males are susceptible to premature ventricular contractions

atrioventricular block ( J:241788 )

• atrioventricular block is seen at a higher rate in 9 month old females

homeostasis/metabolism

decreased body temperature ( J:241788 )

• 28 month old females develop decreased temperature which is not seen in 9 month old mice

behavior/neurological

behavior/neurological phenotype ( J:241788 )

N	• mice exhibit normal activity levels during both the light and dark cycles at 9 and 28 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Rett syndrome		DOID:1206	OMIM:312750 OMIM:613454	J:241788

Allelic Composition	Mecp2^tm1.1Bird/Mecp2⁺
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Bird mutation (1 available); any Mecp2 mutation (38 available)

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

nervous system

abnormal hippocampus morphology ( J:194039 )

• decrease in the number of ATRX containing foci in null cells only

abnormal cerebral cortex morphology ( J:194039 )

• decrease in the number of ATRX containing foci in null cells only

decreased neuron number ( J:108953 )

• 7-9 week old adults have 33% the number of Mecp2-expressing neurons compared to young adult wild-type

• compared to age-matched wild-type adults, 24-95 week old heterozygotes have 68% the number of Mecp2-expressing cortical neurons; number of Mecp2-expressing neurons is significantly higher in younger mutants than in older mutants

cellular

abnormal dosage compensation, by inactivation of X chromosome ( J:108953 )

• X-chromosome inactivation becomes unbalance in older mutants, with a larger percentage expressing Mecp2 compared to younger mutants (>50%)

Allelic Composition	Mecp2^tm1.1Bird/Mecp2⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Bird mutation (1 available); any Mecp2 mutation (38 available)

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

behavior/neurological

limb grasping ( J:67910 )

• acquire hindlimb clasping at ages greater than 3 months

decreased locomotor activity ( J:67910 )

• although heterozygous females initially show no symptoms and raise normal litters, they acquire inertia at ages greater than 3 months

• in an open field test, visit fewer squares, spend more time being immotile and rear less than controls, however this is not due to increased anxiety, as fecal bolus counts, grooming times and time spent in different zones of the field are similar to controls

respiratory system

abnormal breathing pattern ( J:67910 )

• often exhibit breathing irregularities by 9 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Rett syndrome		DOID:1206	OMIM:312750 OMIM:613454	J:67910

Allelic Composition	Mecp2^tm1.1Bird/Y Sum5^M1Jus/Sum5⁺
Genetic Background	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Bird mutation (1 available); any Mecp2 mutation (38 available)
Sum5^M1Jus mutation (0 available); any Sum5 mutation (0 available)

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

mortality/aging

extended life span ( J:198551 )

• lifespan in increased at least 3 weeks from the average 50% lethality time point of Mecp2^tm1.1Bird hemizygotes

behavior/neurological

lethargy ( J:198551 )

• at 8 and 20 weeks but ameliorated compared to in Mecp2^tm1.1Bird hemizygotes

limb grasping ( J:198551 )

• at 8 and 20 weeks but ameliorated compared to in Mecp2^tm1.1Bird hemizygotes

tremors ( J:198551 )

• at 8 and 20 weeks but ameliorated compared to in Mecp2^tm1.1Bird hemizygotes

immune system

eye inflammation ( J:198551 )

• unlike Mecp2^tm1.1Bird hemizygotes

growth/size/body

abnormal body weight ( J:198551 )

• at 8 and 20 weeks but ameliorated compared to in Mecp2^tm1.1Bird hemizygotes

vision/eye

eye inflammation ( J:198551 )

• unlike Mecp2^tm1.1Bird hemizygotes

Allelic Composition	Mecp2^tm1.1Bird/Y Sqle^Sum3-Jus/Sqle⁺
Genetic Background	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Bird mutation (1 available); any Mecp2 mutation (38 available)
Sqle^Sum3-Jus mutation (0 available); any Sqle mutation (38 available)

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

mortality/aging

extended life span ( J:198551 )

• lifespan in increased at least 3 weeks from the average 50% lethality time point of Mecp2^tm1.1Bird hemizygotes

behavior/neurological

lethargy ( J:198551 )

• at 20 weeks but ameliorated compared to in Mecp2^tm1.1Bird hemizygotes

decreased startle reflex ( J:198551 )

• as in Mecp2^tm1.1Bird hemizygotes

limb grasping ( J:198551 )

• at 8 and 20 weeks but ameliorated compared to in Mecp2^tm1.1Bird hemizygotes

tremors ( J:198551 )

• at 8 and 20 weeks but ameliorated compared to in Mecp2^tm1.1Bird hemizygotes

impaired coordination ( J:198551 )

• ameliorated compared to in Mecp2^tm1.1Bird hemizygotes

abnormal locomotor activation ( J:198551 )

• ameliorated compared to in Mecp2^tm1.1Bird hemizygotes

craniofacial

malocclusion ( J:198551 )

• as in Mecp2^tm1.1Bird hemizygotes

growth/size/body

malocclusion ( J:198551 )

• as in Mecp2^tm1.1Bird hemizygotes

abnormal body weight ( J:198551 )

• at 8 and 20 weeks but ameliorated compared to in Mecp2^tm1.1Bird hemizygotes

immune system

dermatitis ( J:198551 )

• unlike Mecp2^tm1.1Bird hemizygotes

integument

dermatitis ( J:198551 )

• unlike Mecp2^tm1.1Bird hemizygotes

respiratory system

increased pulmonary respiratory rate ( J:198551 )

• as in Mecp2^tm1.1Bird hemizygotes

skeleton

malocclusion ( J:198551 )

• as in Mecp2^tm1.1Bird hemizygotes

Allelic Composition	Mecp2^tm1.1Bird/Y Sum1^M1Jus/Sum1⁺
Genetic Background	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Bird mutation (1 available); any Mecp2 mutation (38 available)
Sum1^M1Jus mutation (0 available); any Sum1 mutation (0 available)

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

mortality/aging

extended life span ( J:198551 )

• lifespan in increased at least 3 weeks from the average 50% lethality time point of Mecp2^tm1.1Bird hemizygotes

behavior/neurological

lethargy ( J:198551 )

• at 20 weeks but ameliorated compared to in Mecp2^tm1.1Bird hemizygotes

limb grasping ( J:198551 )

• at 20 weeks but ameliorated compared to in Mecp2^tm1.1Bird hemizygotes

tremors ( J:198551 )

• at 20 weeks but ameliorated compared to in Mecp2^tm1.1Bird hemizygotes

growth/size/body

growth/size/body region phenotype ( J:198551 )

N	• normal body weight unlike Mecp2^tm1.1Bird hemizygotes

Allelic Composition	Mecp2^tm1.1Bird/Y Sum2^M1Jus/Sum2⁺
Genetic Background	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Bird mutation (1 available); any Mecp2 mutation (38 available)
Sum2^M1Jus mutation (0 available); any Sum2 mutation (0 available)

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

mortality/aging

extended life span ( J:198551 )

• lifespan in increased at least 3 weeks from the average 50% lethality time point of Mecp2^tm1.1Bird hemizygotes

behavior/neurological

lethargy ( J:198551 )

• at 20 weeks but ameliorated compared to in Mecp2^tm1.1Bird hemizygotes

limb grasping ( J:198551 )

• at 8 and 20 weeks but ameliorated compared to in Mecp2^tm1.1Bird hemizygotes

tremors ( J:198551 )

• at 8 and 20 weeks but ameliorated compared to in Mecp2^tm1.1Bird hemizygotes

immune system

eye inflammation ( J:198551 )

• unlike Mecp2^tm1.1Bird hemizygotes

dermatitis ( J:198551 )

• unlike Mecp2^tm1.1Bird hemizygotes

growth/size/body

abnormal body weight ( J:198551 )

• at 20 weeks but ameliorated compared to in Mecp2^tm1.1Bird hemizygotes

vision/eye

eye inflammation ( J:198551 )

• unlike Mecp2^tm1.1Bird hemizygotes

integument

dermatitis ( J:198551 )

• unlike Mecp2^tm1.1Bird hemizygotes

Allelic Composition	Mecp2^tm1.1Bird/Y Sum4^M1Jus/Sum4⁺
Genetic Background	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Bird mutation (1 available); any Mecp2 mutation (38 available)
Sum4^M1Jus mutation (0 available); any Sum4 mutation (0 available)

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

mortality/aging

extended life span ( J:198551 )

• lifespan in increased at least 3 weeks from the average 50% lethality time point of Mecp2^tm1.1Bird hemizygotes

behavior/neurological

lethargy ( J:198551 )

• at 20 weeks but ameliorated compared to in Mecp2^tm1.1Bird hemizygotes

limb grasping ( J:198551 )

• at 8 and 20 weeks but ameliorated compared to in Mecp2^tm1.1Bird hemizygotes

tremors ( J:198551 )

• at 8 and 20 weeks but ameliorated compared to in Mecp2^tm1.1Bird hemizygotes

craniofacial

malocclusion ( J:198551 )

• as in Mecp2^tm1.1Bird hemizygotes

growth/size/body

growth/size/body region phenotype ( J:198551 )

N	• normal body weight unlike Mecp2^tm1.1Bird hemizygotes

malocclusion ( J:198551 )

• as in Mecp2^tm1.1Bird hemizygotes

immune system

eye inflammation ( J:198551 )

• unlike Mecp2^tm1.1Bird hemizygotes

dermatitis ( J:198551 )

• unlike Mecp2^tm1.1Bird hemizygotes

skeleton

malocclusion ( J:198551 )

• as in Mecp2^tm1.1Bird hemizygotes

integument

dermatitis ( J:198551 )

• unlike Mecp2^tm1.1Bird hemizygotes

vision/eye

eye inflammation ( J:198551 )

• unlike Mecp2^tm1.1Bird hemizygotes

Allelic Composition	Mbd2^tm1Bh/Mbd2^tm1Bh Mecp2^tm1.1Bird/Y
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mbd2^tm1Bh mutation (1 available); any Mbd2 mutation (21 available)
Mecp2^tm1.1Bird mutation (1 available); any Mecp2 mutation (38 available)

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

mortality/aging

premature death ( J:67910 )

• exhibit the same mortality as single homozygous Mecp2 null mice

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:67910 )

• exhibit the same onset of Rett-like syndrome symptoms and mortality as single homozygous Mecp2 null mice

Allelic Composition	Mecp2^tm1.1Bird/Y Tg(MECP2)1Hzo/0
Genetic Background	involves: 129P2/OlaHsd * FVB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Bird mutation (1 available); any Mecp2 mutation (38 available)
Tg(MECP2)1Hzo mutation (1 available)

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

mortality/aging

mortality/aging ( J:94407 )

N	• premature death in male Mecp2-null mice at 10-11 weeks is rescued

behavior/neurological

behavior/neurological phenotype ( J:94407 )

N	• neurological abnormalities seen in single transgenic mutant are rescued by loss of Mecp2

nervous system

nervous system phenotype ( J:126964 )

N	• amplitudes of EPSCs, RRP size, and mEPSC frequency, amplitude, and decay kinetics are normalized in double mutant brains compared to either single mutant brain • glutamatergic synaptic density is normalized in double mutant brains compared to either single mutant brain

Allelic Composition	Mecp2^tm1.1Bird/Y Tg(MECP2*R270X/GFP)AHzo/0
Genetic Background	involves: 129P2/OlaHsd * FVB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Bird mutation (1 available); any Mecp2 mutation (38 available)
Tg(MECP2*R270X/GFP)AHzo mutation (1 available)

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

mortality/aging

premature death ( J:194039 )

• median lifespan of 85 days

growth/size/body

increased body weight ( J:194039 )

• at 8 weeks of age

• weight gain starts at 7 weeks of age and is more gradual than in mutant mice not carrying the transgene

nervous system

abnormal brain development ( J:194039 )

• brain weight peaks at 7 weeks (1 week earlier than in controls) then declines

decreased brain weight ( J:194039 )

• brain weight peaks at 7 weeks (1 week earlier than in controls) then declines

abnormal hippocampus morphology ( J:194039 )

• decrease in the number of ATRX containing foci at 7 weeks of age and only a few foci are detected at 9 weeks of age

abnormal cerebral cortex morphology ( J:194039 )

• decrease in the number of ATRX containing foci at 7 weeks of age and only a few foci are detected at 9 weeks of age

behavior/neurological

tremors ( J:194039 )

• at all ages tested and severity increases with age

• severity is reduced compared to mutant mice not carrying the transgene

abnormal gait ( J:194039 )

• at all ages tested and severity increases with age

• severity is reduced compared to mutant mice not carrying the transgene

integument

disheveled coat ( J:194039 )

• at 8 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Rett syndrome		DOID:1206	OMIM:312750 OMIM:613454	J:194039

Allelic Composition	Mecp2^tm1.1Bird/Y Tg(MECP2*G273X/GFP)AHzo/0
Genetic Background	involves: 129P2/OlaHsd * FVB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Bird mutation (1 available); any Mecp2 mutation (38 available)
Tg(MECP2*G273X/GFP)AHzo mutation (1 available)

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

mortality/aging

premature death ( J:194039 )

• median lifespan of 201 days

growth/size/body

increased body weight ( J:194039 )

• begin to gain weight at 12 weeks of age reaching a maximum weight by 17 weeks of age

nervous system

abnormal brain development ( J:194039 )

• brain weight peaks at 7 weeks (1 week earlier than in controls) but does not decline unlike in mutant mice not carrying the transgene

decreased brain weight ( J:194039 )

• brain weight peaks at 7 weeks (1 week earlier than in controls) but does not decline unlike in mutant mice not carrying the transgene

abnormal hippocampus morphology ( J:194039 )

• decrease in the number of ATRX containing foci at 9 weeks of age, later than in mutant mice not carrying the transgene

abnormal cerebral cortex morphology ( J:194039 )

• decrease in the number of ATRX containing foci at 9 weeks of age, later than in mutant mice not carrying the transgene

behavior/neurological

tremors ( J:194039 )

• at all ages tested and severity increases with age

• severity is reduced compared to mutant mice not carrying the transgene

abnormal gait ( J:194039 )

• at all ages tested and severity increases with age

• severity is reduced compared to mutant mice not carrying the transgene

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Rett syndrome		DOID:1206	OMIM:312750 OMIM:613454	J:194039

Allelic Composition	Mecp2^tm1.1Bird/Y
Genetic Background	B6.129P2(C)-Mecp2^tm1.1Bird/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Bird mutation (1 available); any Mecp2 mutation (38 available)

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

behavior/neurological

decreased locomotor activity ( J:241788 )

• mice exhibit decreased activity levels during the light cycle but not the dark cycle

cardiovascular system

increased heart rate variability ( J:241788 )

decreased heart rate ( J:241788 )

• males show decreased heart rate during both the light and dark periods and have a higher incidence of sudden bradycardic events

• the initial heart rate increase seen in wild-type mice after saline injection is blunted in mutants

irregular heartbeat ( J:241788 )

• 2-3 month old males exhibit erratic heart rate patterns, with sudden pauses in the regular rhythm of the heart rate and bradycardic events

• 2 month old males present with a variety of spontaneous cardiac arrhythmias ranging from sinus pauses and atrioventricular block to aberrant ventricular contractions

• treatment with atropine results in a drop in the frequency of arrhythmias

• treatment with isoproterenol decreases the rate of sinus pauses

• treatment with propranolol or carbachol does not reduce the rate of sinus pauses

• treatment with both atropine and propranolol decreases the rate of sinus pauses but has little effect on the overall heart rate

• treatment with propranolol does not decrease heart rate but increases sinus pauses

ventricular premature beat ( J:241788 )

• 2 month old males are susceptible to premature ventricular contractions

atrioventricular block ( J:241788 )

• atrioventricular block is seen at a higher rate in 2 month old males

homeostasis/metabolism

decreased body temperature ( J:241788 )

• mice exhibit decreased temperature during both light and dark cycles

nervous system

abnormal parasympathetic nervous system physiology ( J:241788 )

• mice are sensitive to parasympathetic blockade with atropine but have a blunted response to parasympathetic activation with carbachol, indicating excessive parasympathetic tone

abnormal sympathetic nervous system physiology ( J:241788 )

• mice have a blunted response to either sympathetic blockade with propranolol or activation with isoproterenol

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Rett syndrome		DOID:1206	OMIM:312750 OMIM:613454	J:241788

Allelic Composition	Mecp2^tm1.1Bird/Y
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Bird mutation (1 available); any Mecp2 mutation (38 available)

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

nervous system

nervous system phenotype ( J:126964 )

N	• no alteration in synaptic release probability is detected in neurons

decreased CNS synapse formation ( J:126964 )

• in vitro, density of synaptic markers is reduced by 39%

• in vivo, at 2 weeks postnatal, number of glutamatergic synapses is reduced by 19%; by 5 weeks, difference is no longer significant

abnormal synaptic vesicle number ( J:126964 )

• neurons exhibit a 41% reduction in RRP charge relative to wild-type

abnormal nervous system physiology ( J:235553 )

• neurospecific isoforms of lysine (K)-specific demethylase 1A (KDM1A, also known as LSD1) are significantly upregulated in the hippocampus, cerebellum and cortex, along with a corresponding decrease in the ubiquitous KDM1A isoforms, suggesting that NOVA1-mediated upregulation of neurospecific KDM1A isoforms could be causally linked to hyperexcitability

abnormal hippocampus physiology ( J:235553 )

• at P40, hippocampal NOVA1 (neuro-oncological ventral antigen 1) mRNA and protein levels are significantly upregulated relative to those in wild-type controls

decreased excitatory postsynaptic current amplitude ( J:126964 )

• evoked EPSC amplitudes show a 46% reduction compared to wild-type

decreased miniature excitatory postsynaptic current frequency ( J:126964 )

• mEPSCs show a significant decrease in frequency compared to wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Rett syndrome		DOID:1206	OMIM:312750 OMIM:613454	J:235553

Allelic Composition	Mecp2^tm1.1Bird/Y
Genetic Background	involves: 129P2/OlaHsd * 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Bird mutation (1 available); any Mecp2 mutation (38 available)

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

mortality/aging

premature death ( J:198551 )

• however, treatment with fluvastatin improves lifespan

behavior/neurological

lethargy ( J:198551 )

decreased startle reflex ( J:198551 )

• even in mice treated with fluvastatin

limb grasping ( J:198551 )

tremors ( J:198551 )

impaired coordination ( J:198551 )

• however, treatment with fluvastatin or lovastatin improves coordination

decreased locomotor activity ( J:198551 )

• however, treatment with fluvastatin or lovastatin improves open-field activity

homeostasis/metabolism

increased circulating cholesterol level ( J:198551 )

• at P56

• however, statin treatment decreases serum cholesterol concentrations

increased circulating LDL cholesterol level ( J:198551 )

• at P56

increased circulating triglyceride level ( J:198551 )

• at P56

increased brain cholesterol level ( J:198551 )

• at P56, but not P70

increased liver triglyceride level ( J:198551 )

• at P56

• however, treatment with fluvastatin or lovastatin improves liver lipid levels

craniofacial

malocclusion ( J:198551 )

growth/size/body

malocclusion ( J:198551 )

decreased body weight ( J:198551 )

liver/biliary system

increased liver triglyceride level ( J:198551 )

• at P56

• however, treatment with fluvastatin or lovastatin improves liver lipid levels

respiratory system

increased pulmonary respiratory rate ( J:198551 )

• even in mice treated with fluvastatin

skeleton

malocclusion ( J:198551 )

nervous system

increased brain cholesterol level ( J:198551 )

• at P56, but not P70

Allelic Composition	Mecp2^tm1.1Bird/Y
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Bird mutation (1 available); any Mecp2 mutation (38 available)

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

mortality/aging

premature death ( J:67910 )

• variable progression of symptoms leads to rapid weight loss and death at about 54 days of age

behavior/neurological

limb grasping ( J:67910 )

• most mutants develop hindlimb clasping after 7 weeks of age

abnormal locomotor activation ( J:165306 )

• at 8 weeks of age, males show increased latency to start moving and to reach the wall of the open field apparatus

abnormal locomotor coordination ( J:165306 )

• in the gait onset test, males take longer to exit a circle at 3 and 8 weeks of age

ataxia ( J:165306 )

• males exhibit a greater front-base width overall and a larger hind-base width than wild-type mice by 3 weeks of age, a sign of ataxia

abnormal gait ( J:67910 , J:165306 )

• develop a stiff, uncoordinated gait between 3 and 8 weeks of age (J:67910)

• males exhibit a greater front-base width overall and a larger hind-base width than wild-type mice by 3 weeks of age (J:165306)

short stride length ( J:165306 )

• stride length is shorter than in wild-type mice at 8 weeks of age but not at 3 weeks of age

decreased locomotor activity ( J:67910 )

• exhibit reduced spontaneous movement between 3 and 8 weeks of age

growth/size/body

abnormal tooth morphology ( J:67910 )

• frequently exhibit uneven wearing of the teeth

decreased body weight ( J:67910 )

• Background Sensitivity: mutants mated to C57BL/6 (mixed 129P2/OlaHsd and C57BL/6 background) mice are substantially underweight from 4 weeks with full penatrance

weight loss ( J:67910 )

• variable progression of symptoms leads to rapid weight loss and death at about 54 days of age

increased body weight ( J:67910 )

• Background Sensitivity: mutants on the mixed 129P2/OlaHsd and C57BL/6 background mated to 129 mice are the same weight as controls until 8 weeks of age, when they gain weight and become heavier than controls with an increase in deposited fat

respiratory system

abnormal breathing pattern ( J:67910 )

• most mutants exhibit irregular breathing after 3-8 weeks of age

reproductive system

cryptorchism ( J:67910 )

• testes of mutant males are always internal

craniofacial

abnormal jaw morphology ( J:67910 )

• frequently exhibit misalignment of the jaws

abnormal tooth morphology ( J:67910 )

• frequently exhibit uneven wearing of the teeth

endocrine/exocrine glands

cryptorchism ( J:67910 )

• testes of mutant males are always internal

skeleton

abnormal jaw morphology ( J:67910 )

• frequently exhibit misalignment of the jaws

abnormal tooth morphology ( J:67910 )

• frequently exhibit uneven wearing of the teeth

hearing/vestibular/ear

abnormal hearing physiology ( J:67910 )

• some mutants fail to respond to sound, although neither motor defects nor sensory defects are detected

homeostasis/metabolism

decreased noradrenaline level ( J:165306 )

• 36% reduction in levels of norepinephrine within the vestibular nuclei

• males exhibit a 31%, 30%, and 61% decrease in norepinephrine in the prefrontal cortex at 3 weeks, the motor cortex at 3 weeks, and the cerebellum at 8 weeks of age

• mutants do not exhibit an increase in norepinephrine in the hippocampus from 3 to 8 weeks of age as seen in wild-type mice

decreased serotonin level ( J:165306 )

• males exhibit a 36%, 30%, and 55% decrease in 5-HT in the prefrontal cortex at 3 weeks, the motor cortex at 3 weeks, and the cerebellum at 8 weeks of age, respectively

• males exhibit a 34% and 55% decrease in the 5-HT precursor, 5-HIAA in the prefrontal cortex at 3 weeks and the cerebellum at 8 weeks of age, respectively

• 5-HT turnover is increased in the prefrontal cortex and motor cortex

• 5-HT levels are decreased in the hippocampus at 8 weeks of age but not at 3 weeks

nervous system

abnormal synaptic neurotransmitter level ( J:165306 )

• at 3 weeks of age, noradrenergic and serotonergic transmission is altered in the prefrontal and motor cortices

• during progression of disease, noradrenergic and serotonergic transmission is also altered in the hippocampus and cerebellum

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Rett syndrome		DOID:1206	OMIM:312750 OMIM:613454	J:67910 , J:165306

Allelic Composition	Mecp2^tm1.1Bird/Y
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Bird mutation (1 available); any Mecp2 mutation (38 available)

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

growth/size/body

increased body weight ( J:135824 )

• male mutants become considerably heavier than littermates after 2 months, with noticeable weight differences at 9 weeks

• at 17 weeks, males 39.7 g vs 32.1 g in wild-type

obese ( J:135824 )

• male mice become obese with increased weight of fat pads by 14-17 weeks

behavior/neurological

behavior/neurological phenotype ( J:135824 )

• visual placing reflex and response to a soft touch to the side of the face are normal relative to wild-type

• olfaction and motivation to eat were normal in mutants

• anxiety-related behaviors are similar to wild-type mice

• ability to grip a wire and remain suspended for 1 minute is normal in mutants

limb grasping ( J:135824 )

• subtle clasping is observed starting at 6 weeks of age

abnormal motor coordination/balance ( J:135824 )

abnormal social investigation ( J:135824 )

• mutants spend less time in chamber side containing familiar mouse than in side with a stranger relative to controls, although response to introduction of stranger is similar

adipose tissue

increased total fat pad weight ( J:135824 )

• fat pads in 14-17 week old male mice weigh 2-3 times more than wild-type

Allelic Composition	Mecp2^tm1.1Bird/Y
Genetic Background	involves: 129P2/OlaHsd * C57BL/6J * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Bird mutation (1 available); any Mecp2 mutation (38 available)

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

behavior/neurological

seizures ( J:166851 )

• electrographic seizures are measured in cultured neurons from constitutive null mice

nervous system

seizures ( J:166851 )

• electrographic seizures are measured in cultured neurons from constitutive null mice

abnormal nervous system electrophysiology ( J:166851 )

• non-seizure hyperexcitability discharges are observed in recordings from in cultured neurons from constitutive null mice

abnormal miniature inhibitory postsynaptic currents ( J:166851 )

• electrographic seizures are measured in cultured neurons from constitutive null mice

Allelic Composition	Mecp2^tm1.1Bird/Y
Genetic Background	involves: 129P2/OlaHsd * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Bird mutation (1 available); any Mecp2 mutation (38 available)

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

behavior/neurological

abnormal spatial working memory ( J:268051 )

• P30 males exhibit working memory defects, showing decreased percentage of correct alternation in the spontaneous alternation test

impaired coordination ( J:268051 )

• males exhibit decreased latency to fall off the rotarod indicating motor impairment

decreased grip strength ( J:268051 )

• P30 males exhibit decreased grip strength

short stride length ( J:268051 )

• gait analysis indicates smaller strides in P30 males

muscle

increased muscle fatigability ( J:268051 )

• males show increased muscle fatigue at constant speed on the rotarod

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Rett syndrome		DOID:1206	OMIM:312750 OMIM:613454	J:268051

Allelic Composition	Mecp2^tm1.1Bird/Y
Genetic Background	involves: 129P2/OlaHsd * FVB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1.1Bird mutation (1 available); any Mecp2 mutation (38 available)

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

mortality/aging

premature death ( J:194039 )

• median lifespan of 76 days

growth/size/body

increased body weight ( J:194039 )

• starting at 6 weeks of age and reaching a maximum weight by 8 weeks of age

nervous system

abnormal brain development ( J:194039 )

• brain weight peaks at 7 weeks (1 week earlier than in controls) then declines

decreased brain weight ( J:194039 )

• brain weight peaks at 7 weeks (1 week earlier than in controls) then declines

abnormal hippocampus morphology ( J:194039 )

• decrease in the number of ATRX containing foci at 7 weeks of age and only a few foci are detected at 9 weeks of age

abnormal cerebral cortex morphology ( J:194039 )

• decrease in the number of ATRX containing foci at 7 weeks of age and only a few foci are detected at 9 weeks of age

behavior/neurological

tremors ( J:194039 )

• at all ages tested and severity increases with age

abnormal gait ( J:194039 )

• at all ages tested and severity increases with age

integument

disheveled coat ( J:194039 )

• at 8 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Rett syndrome		DOID:1206	OMIM:312750 OMIM:613454	J:194039

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