Nucleotide substitutions within exon 1 result in three amino acid substitutions, alanine for methionine at position 45 (M45A), alanine for lysine at position 49 (L49A), and alanine for isoleucine at position 52 (I52A). These mutations disrupt the N-terminal nuclear export sequence. The floxed neo cassette inserted downstream of the modified exon 1 was removed by cre-mediated recombination. (J:168977)

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
5
3

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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