A targeting construct was designed to insert a loxP-flanked neomycin (neo) resistance cassette downstream of exon 3 of the methyl CpG binding protein 2 (Mecp2) gene. A point mutation was introduced in exon 4, corresponding to human amino acid 255, resulting in a non-sense mutation, R255X, commonly found in humans carrying Rett Syndrome (RTT). Cre mediated recombination removed the floxed selection cassette. Western blot analysis indicates absence of full-length protein or the predicted truncation product. (J:185639, J:220859)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Insertion, Single point
--
1
15
3

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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