Mecp2^em1Hzo
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mecp2^em1Hzo
• Name: methyl CpG binding protein 2; endonuclease-mediated mutation 1, Huda Y Zoghbi
• MGI ID: MGI:7565284
• Synonyms: Mecp2^G118E
• Gene: Mecp2 Location: ChrX:73070198-73129296 bp, - strand Genetic Position: ChrX, 37.63 cM
• Alliance: Mecp2^em1Hzo page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Hypomorph)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a glycine to glutamic acid substitution at amino acid 118 (p.G118E). This is a novel variant identified in a male with developmental delay, generalized hypotonia, motor planning difficulty and metatarsus adductus that developed seizures with age. Hemizygous males express RNA levels comparable to wild-type in the cortex but have an approximate 40% reduction in protein. (J:343257)

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Mecp2 Mutation: 46 strains or lines available

References

• Original: J:343257 Zhou J, et al., A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels. Genes Dev. 2023 Oct 1;37(19-20):883-900
• All: 2 reference(s)