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Mecp2tm1Nlnd
Targeted Allele Detail
Summary
Symbol: Mecp2tm1Nlnd
Name: methyl CpG binding protein 2; targeted mutation 1, Nicoletta Landsberger
MGI ID: MGI:6270401
Synonyms: Mecp2Y120D
Gene: Mecp2  Location: ChrX:73070198-73129296 bp, - strand  Genetic Position: ChrX, 37.63 cM
Alliance: Mecp2tm1Nlnd 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 detailsExon 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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:  41 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)

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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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory