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Allele : Efemp1<tm1Lmar> epidermal growth factor-containing fibulin-like extracellular matrix protein 1; targeted mutation 1, Lihua Y Marmorstein

Primary Identifier  MGI:3770755 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Efemp1
Inheritance Mode  Dominant Transmission  Germline
Strain of Origin  129X1/SvJ Is Recombinase  false
Is Wild Type  false
molecularNote  Amino acid 345 was targeted for an arginine to tryptophan mutation (R345W) by changing a CGA codon to a TGG codon within exon 10. An upstream BsmI restriction site 4 bp upstream of the codon was also mutated to aid in genotype screening, and a floxed neomycin resistance cassette was inserted into intron 11 for colony selection. Germline-transmitting chimeras were bred with Cre-transgenic mice to delete the neo cassette. Mutant protein was detected in the retina of homozygote mice by immunohistochemistry.
  • mutations:
  • Insertion
  • synonyms:
  • Efemp1<ki>,
  • Efemp1<ki>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

6 Publication categories

Trail: Allele