A targeting vector was used to insert a 3 nucleotide mutation (gga-TTT) in exon 7 of Smn1, within an important splice enhancer element, and a floxed Neo cassette (in the opposite orientation to transcription) in intron 7. The mutation changes the exon splice enhancer into an exon splice silencer, thus greatly reducing the inclusion of exon 7 in transcripts, which results in producing Smn2-like transcripts. Cre mediated recombination deleted the neo cassette, which disrupted efficient transcription of Smn1. (J:176267, J:183080)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129/SvJ
Targeted
Insertion, Nucleotide substitutions
--
1
5
14

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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