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. A second point mutation was introduced to exon 14 (ACA to ATA) that results in the amino acid substitution of isoleucine for threonine at position 669 (T669I). These point mutations mimic a valine 559 deletion and a T670I amino acid substitution found in a case of human somatic gastrointestinal stromal tumor (GIST). Cre-mediated recombination removed the neo cassette. (J:188434)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
Insertion, Nucleotide substitutions
--
1
27
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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