Mecp2tm1Nlnd
Targeted Allele Detail
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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
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Alliance: |
Mecp2tm1Nlnd page
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Germline Transmission: |
Earliest citation of germline transmission:
J:268051
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Parent Cell Line: |
Not Specified (ES Cell)
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Strain of Origin: |
129
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Allele Type: |
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Targeted (Humanized sequence) |
Mutation: |
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Nucleotide substitutions
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Mecp2 Mutation: |
41 strains or lines available
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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) |
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