The mouse promoter drives rod and cone-specific expression of the bovine cDNA containing a mutation that results in an amino acid substitution of cysteine for tyrosine at position 99 (Y99C). This mutation is found in human patients with late-onset retinal dystrophy. Several lines were created (L52, L52H, L53, L36, L39, L128, and L52X). Line L53 exhibit a 3- to 4-fold in expression compared to endogenous levels. (J:157063)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
C57BL/6 x DBA/2
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Insertion
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--
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4

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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