Exon 2 was replaced with one in which a C to G mutation results in the amino acid substitution of arginine with glycine at position 242 (p.R242G on precursor or p.R227G on mature peptide). A loxP site was inserted into intron 1 and a loxP site flanked neomycin resistance gene cassette into intron 2. The mutation mimics a human SNP (p.R231G on precursor or p.R213G on mature peptide) that is associated with susceptibility to cardiovascular and lung disease. (J:212043, J:285340)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6NTac x 129S6/SvEvTac)F1
Targeted
Insertion, Single point
--
1
--
6

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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