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Allele : Cfh<tm1.1Song> complement component factor h; targeted mutation 1.1, Wen-Chao Song

Primary Identifier  MGI:6314797 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Cfh
Transmission  Germline Strain of Origin  B6.Cg-Thy1<a>
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • FH<W1206R>,
  • FH<W1206R>,
  • FH<R>,
  • FH<R>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

8 Publication categories