| Primary Identifier | MGI:7616510 | Allele Type | Targeted |
| Attribute String | Conditional ready | Gene | Dync1h1 |
| Transmission | Germline | Strain of Origin | C57BL/6N |
| 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. The neo cassette was removed through subsequent Flp-mediated recombination, leaving exon 52 floxed. 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). |
