Phenotypes associated with this allele

• Allele Symbol: Mapt^{tm1(Mecp2)Jae}
• Allele Name: targeted mutation 1, Rudolf Jaenisch
• Allele ID: MGI:3043293
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mapt^tm1(Mecp2)Jae/Mapt^tm1(Mecp2)Jae	B6.Cg-Mapt^tm1(Mecp2)Jae	MGI:5318976
hm2	Mapt^tm1(Mecp2)Jae/Mapt^tm1(Mecp2)Jae	involves: 129/Sv * C57BL/6	MGI:3043296
ht3	Mapt^tm1(Mecp2)Jae/Mapt^+	involves: 129/Sv * C57BL/6	MGI:3043298
cx4	Mapt^tm1(Mecp2)Jae/Mapt^+ Mecp2^tm1.1Jae/Mecp2^+	involves: 129S4/SvJae * C57BL/6	MGI:3043301

Genotype
MGI:5318976

hm1

• Allelic Composition: Mapt^{tm1(Mecp2)Jae}/Mapt^{tm1(Mecp2)Jae}
• Genetic Background: B6.Cg-Mapt^{tm1(Mecp2)Jae}

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

growth/size/body

decreased body weight ( J:182685 )

nervous system

reduced long-term potentiation ( J:182685 )

• high frequency stimulation-induced long term potentiation is attenuated in hippocampal slices from mutants compared to wild-type mice

abnormal miniature excitatory postsynaptic currents ( J:182685 )

• hippocampal neurons exhibit enhanced miniature excitatory neurotransmission; hippocampal neurons show an increase in mEPSC frequency with no change in mEPSC amplitude

enhanced paired-pulse facilitation ( J:182685 )

• paired-pulse facilitation is augmented in mutants at the interstimulus intervals of 30 and 50 ms

behavior/neurological

abnormal associative learning ( J:182685 )

• mutants display consistent freezing levels across all extinction trials, indicating impaired extinction learning

abnormal contextual conditioning behavior ( J:182685 )

• mutants exhibit an increase in freezing behavior in context (novel environment)-dependent fear conditioning 24 hours after training, suggesting enhanced associative learning

abnormal cued conditioning behavior ( J:182685 )

• mutants exhibit an increase in freezing behavior in cue (auditory tone)-dependent fear conditioning 24 hours after training, suggesting enhanced associative learning

• however, mutants are incapable of extinguishing their conditioned response (freezing) to cue when cue is presented alone (without shock), indicating severe impairments in extinction learning and associative learning

• mutants do not show enhanced freezing behavior in the absence of a paired stimulus (baseline freezing) or before the tone in cued fear conditioning, suggesting that mutants learn to associate the cue with the shock

abnormal object recognition memory ( J:182685 )

• in the NOR task to test ability to recognize a novel object, mutants spend less time with the novel object than wild-type mice and show less preference for the novel object over the familiar indicating impaired episodic memory

increased anxiety-related response ( J:182685 )

• in the elevated plus maze, mutants spend less time in the center, more time in the closed arms, and less time in the open arms compared with wild-type

• in the dark/light test, mutants spend less time in the light side and more time in the dark side, indicating heightened anxiety

impaired coordination ( J:182685 )

• mutants spend less time on the rotarod than wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
syndromic X-linked intellectual disability Lubs type		DOID:0060799	OMIM:300260	J:182685

Genotype
MGI:3043296

hm2

• Allelic Composition: Mapt^{tm1(Mecp2)Jae}/Mapt^{tm1(Mecp2)Jae}
• Genetic Background: involves: 129/Sv * C57BL/6

mortality/aging

mortality/aging ( J:89593 )

N • no premature death is seen in homozygotes

behavior/neurological

excessive scratching ( J:89593 )

• lesions are seen by 9 months probably as a result of excessive scratching

tremors ( J:89593 )

ataxia ( J:89593 )

• gait ataxia is seen in homozygous mutants

impaired balance ( J:89593 )

• homozygotes display side-to-side swaying

abnormal sexual interaction ( J:89593 )

• homozygotes do not mate

growth/size/body

cachexia ( J:89593 )

• by 9 months homozygotes appear emaciated

postnatal growth retardation ( J:89593 )

• by weaning homozygotes are 60% smaller than wild-type littermates probably as a result of an inability to compete for food

• after weaning homozygotes remain smaller than wild-type littermates

vision/eye

cataract ( J:89593 )

• by 9 months homozygotes have developed cataracts

integument

disheveled coat ( J:89593 )

• by 9 months homozygotes appear disheveled

Genotype
MGI:3043298

ht3

• Allelic Composition: Mapt^{tm1(Mecp2)Jae}/Mapt⁺
• Genetic Background: involves: 129/Sv * C57BL/6

normal phenotype

no abnormal phenotype detected ( J:89593 )

• heterozygous mice are fertile and healthy with no obvious abnormalities

Genotype
MGI:3043301

cx4

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

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