An FRT site and a loxP site flanked hygromycin resistance gene and STOP cassette were inserted in intron 17 (in ENSMUST00000002487), an ENSMUST00000002487:c.1910T>A mutation was created in exon 18 (changing valine codon 637 (GTG) to aspartic acid (GAG) (p.V637E)) and an FRT site was inserted into intron 18. RT-PCR analysis indicates the mutant allele is hypomorphic, expressed at about 5-10% of the level of the wild-type allele. The mutation is the equivalent of the human c.1799T>A (p.V600E) mutation, the most common oncogenic mutation in BRAF. (J:170095)

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
38
4

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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