CRIPSR/Cas9 technology generated an A to T mutation at position 6466 resulting in an arginine to tryptophan change at amino acid 2156 (R2156W). This mutation corresponds to the R2167W (c.6499C>T) mutation seen in a cryptophthalmos patient. (J:279933)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
Single point
--
1
7
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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