Mecp2<tm1Hzo> Targeted Allele Detail MGI Mouse (MGI:2183727)

Mecp2^tm1Hzo
Targeted Allele Detail

Summary

Symbol:	Mecp2^tm1Hzo
Name:	methyl CpG binding protein 2; targeted mutation 1, Huda Y Zoghbi
MGI ID:	MGI:2183727
Synonyms:	Mecp2³⁰⁸
Gene:	Mecp2 Location: ChrX:73070198-73129296 bp, - strand Genetic Position: ChrX, 37.63 cM
Alliance:	Mecp2^tm1Hzo page

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:78009
Parent Cell Line:	AB2.2 (ES Cell)
Strain of Origin:	129S7/SvEvBrd-Hprt1^b-m2

Mutation
description

Allele Type:		Targeted (Not Applicable)
Mutation:		Insertion
		Mutation details: A stop codon and a floxed neo cassette were inserted into exon 4. The stop codon was inserted downstream of codon 308, allowing translation of the methyl-CpG binding domain and the transcriptional repression domain. Western blot analysis showed that only truncated protein was present in homozygous mutant mice. Staining of brain tissue with a carboxy terminal antibody confirmed the absence of normal protein. (J:78009)

Phenotypes

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

Disease models

Expression

In Structures Affected by this Mutation:

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available Cell Lines: 0 lines available
Carrying any Mecp2 Mutation:	41 strains or lines available

References

Original:	J:78009 Shahbazian M, et al., Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron. 2002 Jul 18;35(2):243-54
All:	44 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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