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| Nomenclature |
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Symbol:
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Mecp2tm1Vnar
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Name:
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methyl CpG binding protein 2;
targeted mutation 1, Vinodh Narayanan
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MGI ID: |
MGI:4949848 |
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Synonyms: |
Mecp2*a140v |
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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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Frontal cortex and olfactory bulbs of Mecp2tm1Vnar/Y mice exhibit an increase in cell density
Show the 4 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:171410
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Single point mutation |
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Mutation details: A targeting construct was designed to insert a loxP site followed by a frt-flanked neomycin (neo) resistance cassette upstream of exon 3 of the methyl CpG binding protein 2 (Mecp2) gene. A second loxP site was inserted in the 3' untranslated region of exon 4. A point mutation was introduced in exon 4, resulting in a missense mutation, A140V, commonly found in humans carrying Rett Syndrome (RTT) X-linked mental retardation. Normal transcript stability was confirmed by quantitative qRT-PCR. (J:171410)
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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:171410
Jentarra GM et al.,
"Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation."
BMC Neurosci 2010;11():19
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All: |
1 reference(s)
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Analysis Tools
