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Exon 14 was replaced with a modified exon 14 in with CGA was mutated to TGC at position 709 resulting in substitution of cysteine to arginine and a silent mutation in which CTG was mutated to CTT in codon 709 (to generate a HindIII site). A FRT-flanked PGK/bg2-neo resistance cassette was introduced into the intron preceding 5' to exon 13, with a transcriptional orientation opposite to that of the gene. Flp-mediated recombination removed the selection cassette. This mutation corresponds to the human p.R703C mutation responsible for atypical type I familial gastric neuroendocrine tumors. (J:235360)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
