A dinucleotide substitution was introduced at codon 588 (exon 14), converting the lysine codon to an arginine codon (K588R). While protein was detected at wild-type levels in homozygous mutant mice, the absence of lysine 588, a conserved residue of the kinase subdomain II, resulted in an ablation of catalytic activity. The targeting construct also included neo and tk selection genes in the 3' untranslated region. (J:84535)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Nucleotide substitutions
--
1
--
5

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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