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Allele : Emd<tm1Ykh> emerin; targeted mutation 1, Yukiko K Hayashi

Primary Identifier  MGI:3621049 Allele Type  Targeted
Attribute String  Null/knockout Gene  Emd
Transmission  Germline Strain of Origin  129X1/SvJ
Is Recombinase  false Is Wild Type  false
description  Mild clinical phenotypic expression similar to Emery-Dreifuss Muscular Dystrophy (OMIM ID: 310300) but symptoms are mild and no dystrophic changes are seen.
molecularNote  A vector was designed to delete sequence encoding the C-terminal 84 amino acids, including the transmembrane domain of the locus by replacing 702 bp with a bovine growth hormone polyA sequence and neo gene. Immunoblot failed to detect wild-type protein in mutants.
  • mutations:
  • Intragenic deletion,
  • Insertion
  • synonyms:
  • Emd<->,
  • Emd<->
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

8 Publication categories

Trail: Allele