A self excising selection cassette (ACN) was inserted in intron 3 and the bases agg were changed to tgg in exon 4 via homologous recombination. The base changes result in an arginine to tryptophan substitution at position 227 (R227W). Cre mediated recombination in the male germ line removed the selection cassette. Protein expression is similar to wild-type protein but DNA binding is reduced. (J:190452)

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
7
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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