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CRISPR/Cas9 technology generated an exon 7 deletion that is predicted to cause a translational frame-shift and generate a premature termination codon in exon 8, thus preventing translation of all isoforms. Transcript levels are abrogated in homozygotes indicating a null allele. ISH confirmed the absence of endocardial expression in E11.5 homozygous mutant hearts. (J:315981)
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
