A G to A point mutation was introduced in exon 2 to create a cysteine to tyrosine substitution at residue 213 (p.C213Y) in the encoded protein. In addition a loxP/FRT flanked neomycin cassette was inserted 882 bp 3' to a second silent mutation (G to A) in exon 2 to introduce a restriction site for genotyping. Flp-mediated recombination removed the Neo cassette. Levels of mutant transcript in homozygotes are similar to wild-type levels, however retinas have only approximately 10% of wild-type levels of protein. (J:292411)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion, Single point
--
1
20
3

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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