A loxP was inserted upstream of exon 3 and a STOP cassette followed by a floxed neo cassette and modified genomic sequence for exon 3 through 6. The modified exon 4 contains a nucleotide substitution that results in the amino acid substitution of arginine for lysine at position 225 (K225R). This amino acid is responsible for the ubiquitination-mediated degradation of the peptide. Cre mediated recombination removes the wild-type exon 3 through 6 and the neo cassette allowing for expression of a transcript containing the nucleotide substitution. (J:157516)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Nucleotide substitutions
--
1
8
7

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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