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A spontaneous mutation resulted in the the deletion of a single G nucleotide from the GGGGG sequence in exon 3. This mutation causes a frame shift and premature stop codon in the first third of the 14 predicted exons. Western blot analysis confirmed the absence of protein expression in whole eyecups. (J:181596)
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
