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| Nomenclature |
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Symbol:
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Mecp2tm1.1Joez
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Name:
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methyl CpG binding protein 2;
targeted mutation 1.1, Zhaolan Zhou
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MGI ID: |
MGI:5310727 |
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Synonyms: |
Mecp2T158A, MeCP2 T158A |
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Gene:
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Mecp2
Location:
ChrX:74026592-74085690 bp, - strand
Genetic Position: ChrX,
37.63 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:181311
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: A targeting construct was designed to insert a loxP-flanked neomycin (neo) resistance cassette upstream of exon 4. A point mutation was introduced in exon 4, resulting in the amino acid mutation, T158A, found in humans carrying the neurodevelopmental disorder Rett Syndrome (RTT). An additional point mutation was introduced at codon 160 to produce a silent mutation that allowed for identification of targeted ES cells. Cre-mediated recombination removed the neo cassette. (J:181311)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Original: |
J:181311
Goffin D et al.,
"Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses."
Nat Neurosci 2012 Feb;15(2):274-83
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All: |
1 reference(s)
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Analysis Tools
