Dync1h1^tm1.1Ics
Targeted Allele Detail

Summary

• Symbol: Dync1h1^tm1.1Ics
• Name: dynein cytoplasmic 1 heavy chain 1; targeted mutation 1.1, Mouse Clinical Institute
• MGI ID: MGI:7616510
• Synonyms: Dync1h1^K3334N, Dync1h1^{tm1.1(K3334N)Ics}, K3334N L2
• Gene: Dync1h1 Location: Chr12:110567886-110633379 bp, + strand Genetic Position: Chr12, 60.7 cM
• Alliance: Dync1h1^tm1.1Ics page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:342743
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Conditional ready)
• Mutations: Insertion, Single point mutation
• Mutation details: 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). (J:342743)

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Dync1h1 Mutation: 195 strains or lines available

References

• Original: J:342743 Meziane H, et al., Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models. Biomedicines. 2022 Dec 6;10(12)
• All: 2 reference(s)