Mecp2em2Bird
Endonuclease-mediated Allele Detail
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| Symbol: |
Mecp2em2Bird |
| Name: |
methyl CpG binding protein 2; endonuclease-mediated mutation 2, Adrian Bird |
| MGI ID: |
MGI:6196345 |
| Synonyms: |
MeCP2 deltaNIC |
| Gene: |
Mecp2 Location: ChrX:73070198-73129296 bp, - strand Genetic Position: ChrX, 37.63 cM
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| Alliance: |
Mecp2em2Bird page
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| Allele Type: |
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Endonuclease-mediated (Reporter) |
| Mutations: |
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Insertion, Intragenic deletion
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Mutation details: A targeting vector, an sgRNA and CRISPR/Cas9 technology were used to modify the locus as follows: a loxP site, a neomycin resistance gene cassette, a transcriptional STOP cassette and a second loxP site, all inserted into intron 2, a modified exon 3, a modified exon 4, sequence for linker peptide GSSGSSG, and the EGFP gene. The modification to exon 3 is the deletion of sequence for codons 30-87 (splice variant e1) or 13-70 (splice variant e2). The modification to exon 4 is the replacement of sequence for codons 174-271 (approximately; includes the endogenous nuclear localization sequence (NLS))(splice variant e2) with sequence for linker peptide (GSSGSSG) and SV40 NLS (PKKKRKV), and the deletion of sequence for codons 313-484 (approximately)(splice variant e2). The neo-STOP cassette was subsequently removed through cre-mediated recombination. This leaves a knockin allele where the endogenous gene is replaced with a truncated version (with sequences immediately upstream of the methyl-CpG binding domain (MBD) and downstream of the NCor/SMRT interaction domain (NID) deleted and sequence between the two domains replaced with SV40 NLS sequence) fused to a fluorescent marker. The truncated protein retains 32% of the wild-type sequence.
(J:252845)
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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: |
38 strains or lines available
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| Original: |
J:252845 Tillotson R, et al., Radically truncated MeCP2 rescues Rett syndrome-like neurological defects. Nature. 2017 Oct 19;550(7676):398-401 |
| All: |
1 reference(s) |
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