Dync2h1^pol
Chemically induced Allele Detail

Summary

• Symbol: Dync2h1^pol
• Name: dynein cytoplasmic 2 heavy chain 1; polyphemus
• MGI ID: MGI:6756365
• Gene: Dync2h1 Location: Chr9:6928550-7177619 bp, - strand Genetic Position: Chr9, Syntenic
• Alliance: Dync2h1^pol page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Chemically induced (ENU) (Null/knockout)
• Mutation: Single point mutation
• Mutation details: The mutation found in exon 69 (c.C10562A; p.Y3491*) resulting in a premature termination mutation and product degradation by nonsense mediated decay. (J:309102)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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 Dync2h1 Mutation: 215 strains or lines available

References

• Original: J:223812 Caparros-Martin JA, et al., Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium. Hum Mol Genet. 2015 Jul 15;24(14):4126-37
• All: 2 reference(s)