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An FRT site and loxP site flanked neomycin resistance gene cassette was inserted into intron 1 and exon 1 was replaced with a version with two engineered mutations: a silent TTC>TTT mutation to aid genotyping and an AAA deletion to create an allele coding for a peptide with a K153 deletion. This deletion emulates one causing variable retinal phenotypes in human patients. The neo cassette was removed through flp-mediated recombination. (J:237869)
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
