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Exon 2 was replaced with one containing a CGC to TGC non-synonymous substitution resulting in an arginine to cysteine change at amino acid 141 (R141C), an frt-loxP-neo-frt-loxP cassette was inserted upstream of exon 2, and a flag tag was inserted at the ATG of exon 1. Flp-mediated recombination removed the neo selection cassette. This mutation is identified in patients with congenital heart defects. (J:251389)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
