A T to A single nucleotide mutation was introduced by site-directed mutagenesis resulting in a tryptophan (W) to arginine (R) mutation at amino acid 1206. An FRT-flanked neomycin selection cassette was inserted upstream of exon 22 and was removed via Flp-mediated recombination. The W1206R change in mouse corresponds to the W1183R mutation found in families with atypical hemolytic uremic syndrome. Western blot analysis of plasma indicates that protein levels are higher (115%) than the normal protein levels in wild-type mice. (J:240426)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
B6.Cg-Thy1a
Targeted
Single point
--
1
10
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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