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A 7.8 kb genomic fragment within exon 1 and intron 1 was replaced by a neomycin selection cassette in opposite transcriptional orientation to the gene via homologous recombination, creating a stop codon after 43 aa. Western blot with an antibody against the COOH terminus and immunofluorescence analysis confirmed the absence of protein in E10.75 embryos and cardiac tissue, respectively. (J:93314)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
