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Allele : Dync1h1<tm1Ics> dynein cytoplasmic 1 heavy chain 1; targeted mutation 1, Mouse Clinical Institute

Primary Identifier  MGI:7641512 Allele Type  Targeted
Attribute String  Conditional ready Gene  Dync1h1
Transmission  Germline Strain of Origin  C57BL/6NCrl
Is Recombinase  false Is Wild Type  false
molecularNote  Lysine codon 3334 (AAG) in exon 52 was changed to asparagine (AAT) (p.K3334N). A loxP site was inserted into intron 51 and an FRT site flanked neomycin resistance gene cassette and second loxP site were inserted into intron 52. Loss-of-function mutations in the human ortholog are associated with autosomal dominant axonal Charcot-Marie-Tooth type 20 disease (CMT20), autosomal dominant mental retardation 13 (MRD13) and autosomal dominant lower extremity-predominant spinal muscular atrophy 1 (SMALED1).
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • K3334N L3,
  • K3334N L3
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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