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This is a spontaneous deletion of 7 nucleotodes in exon 1 in a GC rich region which is predicted to result in a frameshift after codon 8 and a stop codon after 21. RT-PCR of retinal RNA reveals a 2.5 fold increase in transcript, but western blotting failed to detect protein product. (J:163743)
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
