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. Flp-mediated recombination removed the neo cassette. (J:171410, J:171411)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Single point
--
1
15
2

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:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top