Dync1h1^tm1.1Sjki
Targeted Allele Detail

Summary

• Symbol: Dync1h1^tm1.1Sjki
• Name: dynein cytoplasmic 1 heavy chain 1; targeted mutation 1.1, Stephen J King
• MGI ID: MGI:6198574
• Synonyms: H304R
• Gene: Dync1h1 Location: Chr12:110567886-110633379 bp, + strand Genetic Position: Chr12, 60.7 cM
• Alliance: Dync1h1^tm1.1Sjki page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:264493
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6 x 129

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: 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. (J:264493)

Disease models

Find Mice (IMSR)

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

References

• Original: J:264493 Sabblah TT, et al., A novel mouse model carrying a human cytoplasmic dynein mutation shows motor behavior deficits consistent with Charcot-Marie-Tooth type 2O disease. Sci Rep. 2018 Jan 29;8(1):1739
• All: 2 reference(s)