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Allele : Dync1h1<tm1.1Sjki> dynein cytoplasmic 1 heavy chain 1; targeted mutation 1.1, Stephen J King

Primary Identifier  MGI:6198574 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Dync1h1
Transmission  Germline Strain of Origin  C57BL/6 x 129
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 5 was replaced with one containing an A to G point mutation resulting in a histidine to arginine change at amino acid 304 (H304R) that corresponds to the human H306R mutation seen in Charcot-Marie-Tooth type 2O patients. A FRT-flanked neomycin resistance cassette was inserted in intron 5-6 and was removed via Flp-mediated recombination. Western blot analysis confirmed expression of the protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • H304R,
  • H304R
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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

5 Publication categories

Trail: Allele