A targeting vector was 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 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) fused to a fluorescent marker. The truncated protein retains 52% of the wild-type sequence. (J:252845)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
--
1
15
1

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

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PMID
Journal
Year
IF
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