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The G in codon 126 (alanine) was deleted resulting in an alanine to proline substitution and producing a 13 amino acid frame shift ending in a termination codon. A loxP-flanked neomycin cassette (Flox STOP Neo) was inserted upstream of the exon containing the mutation. Cre-excision of the stop cassette results in the expression of the mutant. This mutation was identified in individuals with hypoplastic hearts (from the Leipzig University fixed tissue collection). (J:311466)
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
