Dync1h1tm1Ics
Targeted Allele Detail
|
|
| Symbol: |
Dync1h1tm1Ics |
| Name: |
dynein cytoplasmic 1 heavy chain 1; targeted mutation 1, Mouse Clinical Institute |
| MGI ID: |
MGI:7641512 |
| Synonyms: |
K3334N L3 |
| Gene: |
Dync1h1 Location: Chr12:110567886-110633379 bp, + strand Genetic Position: Chr12, 60.7 cM
|
| Alliance: |
Dync1h1tm1Ics page
|
|
| Germline Transmission: |
Earliest citation of germline transmission:
J:334549
|
| Parent Cell Line: |
Not Specified (ES Cell)
|
| Strain of Origin: |
C57BL/6N
|
|
| 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. 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:334549)
|
|
|
View phenotypes and curated references for all genotypes (concatenated display).
|
| 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
|
|
| Original: |
J:334549 Romero DM, et al., A human dynein heavy chain mutation impacts cortical progenitor cells causing developmental defects, reduced brain size and altered brain architecture. Neurobiol Dis. 2023 Mar 16;180:106085 |
| All: |
1 reference(s) |
|
Analysis Tools
