A loxP site flanked neomycin resistance gene and STOP cassette was inserted into intron 1. Exon 8 was replaced with a modified exon 8 in which a C-to-T substitution results in the amino acid substitution of proline with serine at position 275 (p.P275S). This mutation corresponds to a proven UVB exposure mutational hostspot at human codon 278. Cre-mediated recombination removed the neo/STOP cassette. (J:186114)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Single point
--
1
65
1

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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