Serine codon 14 (TCC) in exon 2 was changed to alanine (GCC) (p.S14A) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 2. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation prevents phosphorylation of the affected residue in the encoded peptide. (J:290419)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Single point
--
1
--
2

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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