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Exon 4 was modified by nucleotide substitutions (CGT to TGG) that result in the amino acid substitution of tryptophan for arginine at position 90 (R90W) in the DNA binding domain, mimicking a mutation associated with the autosomal dominant form of cone-rod dystrophy (adCoRD) and with autosomal recessive Leber Congenital Amaurosis (LCA). Cre-mediated recombination removed the floxed allele inserted upstream of exon 4. (J:211011)
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
