A G-to-C mutation resulting in an arginine to histidine substitution at amino acid 334 (p.R334H) was introduced in exon 10 and a loxP-flanked cassette containing neomycin resistance and thymidine kinase genes was inserted into intron 9. Cre-mediated recombination removed the selection cassette. This is a mutation associated with variable tumor susceptibility in humans. (J:305549)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129X1/SvJ
Targeted
Insertion, Single point
--
1
65
1

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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