Mecp2^tm1Nlnd
Targeted Allele Detail

Summary

• Symbol: Mecp2^tm1Nlnd
• Name: methyl CpG binding protein 2; targeted mutation 1, Nicoletta Landsberger
• MGI ID: MGI:6270401
• Synonyms: Mecp2^Y120D
• Gene: Mecp2 Location: ChrX:73070198-73129296 bp, - strand Genetic Position: ChrX, 37.63 cM
• Alliance: Mecp2^tm1Nlnd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:268051
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: Exon 3 was replaced with one in which nucleotide substitutions that result in the amino acid substitution of aspartice acid for tryptophan at position 120 (Y120D). This mutation occurs in the methyl-binding domain and replicates a mutation found in Rett syndrome patients. An FRT-flanked neomycin cassette was inserted downstream of the modified exon 3 in the methyl-binding domain. (J:268051)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(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: 45 strains or lines available

References

• Original: J:268051 Gandaglia A, et al., A Novel Mecp2(Y120D) Knock-in Model Displays Similar Behavioral Traits But Distinct Molecular Features Compared to the Mecp2-Null Mouse Implying Precision Medicine for the Treatment of Rett Syndrome. Mol Neurobiol. 2018 Nov 6
• All: 2 reference(s)