Mecp2<tm1Bird> Targeted Allele Detail MGI Mouse (MGI:2137555)

Mecp2^tm1Bird
Targeted Allele Detail

Nomenclature

Symbol:	Mecp2^tm1Bird
Name:	methyl CpG binding protein 2; targeted mutation 1, Adrian Bird
MGI ID:	MGI:2137555
Synonyms:	Mecp2^lox
Gene:	Mecp2 Location: ChrX:71271931-71331029 bp, - strand Genetic Position: ChrX, 29.6 cM

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:67910
Parent Cell Line:	E14TG2a (ES Cell)
Strain of Origin:	129P2/OlaHsd

Mutation
description

Allele Type:	Targeted (Floxed/Frt)
Mutation:	Insertion
	Insertion of a neomycin resistance cassette into the gene introduced loxP sites that flank exons 3 and 4, and added an intron and polyadenylation signal from the human beta globin gene. From the mutated allele, Northern blot analysis detected the wild type mature transcript and also a transcript in which the beta globin intron was unspliced. (J:67910)

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)

Carrying this Mutation:	Mouse Strains: 2 strains available Cell Lines: 0 lines available
Carrying any Mecp2 Mutation:	12 strains or lines available

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems	Genotypes:	cn1	ot2	ot3
behavior/neurological		√	√	√
behavior/neurological phenotype				N
limb grasping		√
hypoactivity		√
abnormal gait		√
decreased startle reflex			√
impaired coordination			√
abnormal touch/ nociception			√	√
increased thermal nociceptive threshold			√
abnormal nest building behavior			√
abnormal social investigation			√	√
decreased anxiety-related response				√
abnormal contextual conditioning behavior				√
abnormal cued conditioning behavior				√
increased vertical activity				√
		cn1	ot2	ot3
craniofacial		√
abnormal tooth morphology		√
		cn1	ot2	ot3
endocrine/exocrine glands		√
cryptorchism		√
		cn1	ot2	ot3
growth/size		√	√	N
growth/size phenotype				N
decreased body weight		√
increased body weight			√
		cn1	ot2	ot3
hearing/vestibular/ear			√
decreased startle reflex			√
		cn1	ot2	ot3
life span/aging		√	N	N
life span/aging phenotype			N	N
premature death		√
		cn1	ot2	ot3
nervous system			√	√
decreased prepulse inhibition			√	√
		cn1	ot2	ot3
reproductive system		√
cryptorchism		√
		cn1	ot2	ot3
respiratory system				√
abnormal breathing				√
apnea				√
		cn1	ot2	ot3
touch/vibrissae			√	√
abnormal touch/ nociception			√	√
increased thermal nociceptive threshold			√

		cn1	ot2	ot3
Disease Models		√	√	√
Rett Syndrome; RTT		√	√	√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype

Allelic Composition

Genetic Background

cn1 Disease Model

Mecp2^tm1Bird/Y
Tg(Nes-cre)1Kln/0

involves: 129P2/OlaHsd * C57BL/6 * SJL

ot2 Disease Model

Mecp2^tm1Bird/Y

(129S6.129P2-Mecp2^tm1Bird x C57BL/6)F1

ot3 Disease Model

Mecp2^tm1Bird/Y

(129S6.129P2-Mecp2^tm1Bird x FVB/N)F1

behavior/neurologicalbehavior/neurological phenotype (J:135825)

Background Sensitivity: no overt abnormalities are observed; mutants do not exhibit impaired coordination in a variety of tests measured

mice do not show overt abnormalities like tremor or limb grasping

decreased anxiety-related response (J:135825)

mice show decrease anxiety-related behavior in open field assays than wild-type mice

abnormal contextual conditioning behavior (J:135825)

percentage of time spent freezing is elevated relative to wild-type when placed back into the conditioning chamber

abnormal cued conditioning behavior (J:135825)

percentage of time spent freezing is elevated relative to wild-type when re-exposure to a previously experienced cue

increased vertical activity (J:135825)

increased number of vertical explorations is observed compared to wild-type; this is indicative of reduced anxiety

abnormal touch/ nociception (J:135825)

mutants exhibit deficit in pain recognition rather than significant defect in pain sensitivity

abnormal social investigation (J:135825)

mice have altered social behavior and spend more time than wild-type animals interacting with an unfamiliar mouse or with a 'familiar' mouse that has been reintroduced into the cage

life span/aginglife span-post-weaning/aging (J:135825)

no early mortality is observed in contrast to Mecp2-null animals

nervous systemdecreased prepulse inhibition (J:135825)

mice show decreased prepulse inhibition compared to wild-type

respiratory systemabnormal breathing (J:135825)

at 4 months, respiratory pattern is qualitatively different than in wild-type; coefficient of variability of the respiratory rhythm is higher than in wild-type

apnea (J:135825)

increase in apnea incidence (39.5/hour) is observed compared to wild-type (5.8/hour)

touch/vibrissaeabnormal touch/ nociception (J:135825)

mutants exhibit deficit in pain recognition rather than significant defect in pain sensitivity

growth/sizegrowth/size phenotype (J:135825)

Background Sensitivity: no size difference is detected relative to wild-type, unlike mice on the C57BL/6 background

Mouse Models of Human Disease	Note	Ref(s)
Models with phenotypic similarity to human diseases associated with human MECP2.
Rett Syndrome; RTT		J:135825

Disease
models

Mouse Models of Human Disease	Note	Genotype			Ref(s)
Mouse Models of Human Disease	Note		Allelic Composition	Genetic Background	Ref(s)
Models with phenotypic similarity to human diseases associated with human MECP2.
Rett Syndrome; RTT OMIM ID: 312750		ot2	Mecp2^tm1Bird/Y	(129S6.129P2-Mecp2^tm1Bird x C57BL/6)F1	J:135825
	1	cn1	Mecp2^tm1Bird/Y Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	J:67910
		ot3	Mecp2^tm1Bird/Y	(129S6.129P2-Mecp2^tm1Bird x FVB/N)F1	J:135825

¹Conditionally targeted allele(s).

References

Original:	J:67910 Guy J et al., "A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome." Nat Genet 2001 Mar;27(3):322-6
All:	4 reference(s)

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