This spontaneous G-to-A point transition at the last position in exon 8 affects splice donor G-GT by changing it to A-GT. This results in the use of a cryptic splice donor A-GT 28 bp downstream. The resulting 3' extension of exon 8 by 28 bp results in a frameshift. Immunohistochemistry does not detect this protein in the dendritic tips of depolarizing bipolar cells in the retina indicating that this is a null allele. (J:229885)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Spontaneous
Single point
Recessive
1
4
2

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

References Literature

Title
PMID
Journal
Year
IF
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