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)

Disease models

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: 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)