Two point mutations that result in an aspartate to alanine substitution at amino acid 67 and a glutamate to alanine substitution at amino acid 68 were introduced in exon 3 and a loxP flanked PGK-neomycin cassette was inserted upstream of exon 3. Cre-mediated recombination removed the neomycin cassette. These two mutations generate the PGF-DE variant seen in humans that results in the loss of binding and activation of FLT1 (VEGFR-1) but still maintains the ability to heterodimerize with VEGFA. (J:271257)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129
Targeted
Nucleotide substitutions
--
1
--
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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