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A single point mutation deleting valine 558 was introduced to exon 11 and a floxed neo cassette was introduced to intron 9 via homologous recombination. This point mutation mimics a valine 559 deletion found in a case of human somatic gastrointestinal stromal tumor (GIST). The floxed neo cassette was subsequently removed by mating mutant animals to cre deleter strain TgN(EIIa-cre)C5379Lmgd. The integrity of the V558 deletion was confirmed by DNA sequence analysis. (J:83616)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
