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Allele : Dag1<tm1.1Sabl> dystroglycan 1; targeted mutation 1.1, Sandra Blaess

Primary Identifier  MGI:7664416 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Dag1
Transmission  Germline Strain of Origin  C57BL/6
Is Recombinase  false Is Wild Type  false
molecularNote  Cysteine codon 667 (TGC) in exon 4 was changed to phenylalanine (TTC) (p.C667F) and a loxP site flanked neomycin resistance gene cassette was insterted into intron 3. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation is the equivalent of the human c.2006G>T:p.C669F mutation associated with muscle-eye-brain (MEB) disease with multicystic leukodystrophy.
  • mutations:
  • Single point mutation
  • synonyms:
  • Dag1<C667F>,
  • Dag1<C667F>
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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

4 Publication categories