Mecp2^tm1Bird
Targeted Allele Detail

Summary

• 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:73070198-73129296 bp, - strand Genetic Position: ChrX, 37.63 cM
• Alliance: Mecp2^tm1Bird page

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 (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: 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)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)

	Allelic Composition	Genetic Background	Cell Line(s)
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cn1	Mecp2^tm1Bird/Y Sst^tm2.1(cre)Zjh/Sst^+	involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6
cn2	Mecp2^tm1Bird/Y Pvalb^tm1.1(cre)Aibs/Pvalb^+	involves: 129P2/OlaHsd * 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6J * C57BL/6NCrl
cn3	Mecp2^tm1Bird/Y Tg(dlx5a-cre)1Mekk/0	involves: 129P2/OlaHsd * 129S6/SvEvTac * CD-1 * FVB/N
cn4	Mecp2^tm1Bird/Y Tg(Slc32a1-cre)2.1Hzo/0	involves: 129P2/OlaHsd * 129S6/SvEvTac * FVB/N
cn5  Disease Model	Mecp2^tm1Bird/Y Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL
ot6  Disease Model	Mecp2^tm1Bird/Y	(129S6.129P2-Mecp2^tm1Bird x C57BL/6)F1
ot7  Disease Model	Mecp2^tm1Bird/Y	(129S6.129P2-Mecp2^tm1Bird x FVB/N)F1
ot8	Mecp2^tm1Bird/Y	involves: 129P2/OlaHsd * C57BL/6J * FVB/N

Phenotypes:

Affected Systems	cn1	cn2	cn3	cn4		cn5	ot6	ot7	ot8
show or hide all annotated terms Sex:
behavior/neurological	√	√	√		√	√	√	√
behavior/neurological phenotype			N		N			N
abnormal contextual conditioning behavior								√
abnormal cued conditioning behavior								√
impaired cued conditioning behavior		√
abnormal spatial learning					√
decreased anxiety-related response								√
increased grooming behavior					√
decreased startle reflex		√	√		√		√
limb grasping					√	√
ataxia		√
impaired coordination		√	√		√		√
decreased grip strength					√
abnormal gait		√				√
increased vertical activity								√
decreased locomotor activity					√	√
increased stereotypic behavior	√		√		√
abnormal touch/ nociception							√	√
increased thermal nociceptive threshold							√
abnormal nest building behavior			√		√		√
abnormal social investigation		√	√		√		√	√
seizures	√
tonic-clonic seizures	√
craniofacial						√
abnormal tooth morphology						√
endocrine/exocrine glands						√
cryptorchism						√
growth/size/body					√	√	√	N
growth/size/body region phenotype								N
abnormal tooth morphology						√
decreased body weight						√
weight loss					√
increased body weight							√
mortality/aging	√	√	N		√	√	N	N	N
mortality/aging			N				N	N	N
premature death	√	√			√	√
nervous system	√		√	√	√		√	√
nervous system phenotype					N
seizures	√
tonic-clonic seizures	√
abnormal nervous system electrophysiology					√
reduced long-term potentiation					√
abnormal miniature inhibitory postsynaptic currents					√
decreased miniature inhibitory postsynaptic current amplitude				√	√
decreased prepulse inhibition							√	√
increased prepulse inhibition			√		√
reproductive system						√
cryptorchism						√
respiratory system			N		√			√	N
respiratory system phenotype			N						N
decreased tidal volume					√
abnormal breathing pattern					√			√
apnea					√			√
respiratory distress					√
decreased respiration					√
skeleton						√
abnormal tooth morphology						√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	cn5	ot6	ot7
Rett syndrome IDs Rett syndrome       DOID:1206 ICD10CM:F84.2 MESH:D015518 NCI:C75488 OMIM:312750 OMIM:613454 UMLS_CUI:C0035372 Close	√	√	√

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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: 41 strains or lines available

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: 53 reference(s)