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Allele : Efemp1<tm1Eap> epidermal growth factor-containing fibulin-like extracellular matrix protein 1; targeted mutation 1, Eric A Pierce

Primary Identifier  MGI:3774265 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Efemp1
Transmission  Germline Strain of Origin  129S6/SvEvTac
Is Recombinase  false Is Wild Type  false
molecularNote  A loxP site flanked neomycin resistance gene cassette was inserted into intron 8 and an exon 9 was modified to change arginine codon 345 (CGA) to tryptophan (TGG) (p.R345W). The neo cassette was removed through subsequent Cre-mediated recombination. The mutation is the equivalent of the same human mutation associated with age-related macular degeneration (AMD). mRNA is expressed at levels equal to wild-type and protein levels in the eyes are similar to wild-type.
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • Efemp1<R345W>,
  • Efemp1<R345W>
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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