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Allele : Dnm2<tm2.1Ics> dynamin 2; targeted mutation 2.1, Mouse Clinical Institute

Primary Identifier  MGI:6506378 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Dnm2
Transmission  Germline Strain of Origin  Not Specified
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 16 was replaced with one containing an A-to-G nucleotide change resulting in a lysine to glutamic acid substitution at amino acid 562 (p.K562E). In addition, protamine, cre- and selection marker cassettes flanked by loxP sites were inserted in intron 16-17 which were removed via cre-mediated recombination. The K562E mutation is associated with dominant-intermediate Charcot-Marie-Tooth type B disease.
  • mutations:
  • Single point mutation
  • synonyms:
  • Dnm2<K562E>,
  • Dnm2<K562E>
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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