The gene was disrupted by replacing most of exon 6, intron 6, the cardiac-specific first exon and promoter, and exon 7 with a neomycin resistance gene. Expression of both the cardiac specific- short isoform and the long isoform of the gene were eliminated in homozygote mice as determined by western blots of retinal extracts. (J:129363, J:143125)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129X1/SvJ
Targeted
Insertion, Intragenic deletion
--
1
2
6

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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