Dnah11^avc4
Chemically induced Allele Detail

Summary

• Symbol: Dnah11^avc4
• Name: dynein, axonemal, heavy chain 11; atrioventricular canal 4
• MGI ID: MGI:4821828
• Gene: Dnah11 Location: Chr12:117841717-118162778 bp, - strand Genetic Position: Chr12, 63.25 cM
• Alliance: Dnah11^avc4 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Null/knockout)
• Mutation: Single point mutation
• Mutation details: The causative mutation is a T-to-C missense mutation, a transition at g.117931223. The T-to-C transition resulted in a non-conservative amino acid change, p.Ser3630Pro, located in a highly conserved ATP-binding dynein motor region D5 of the encoded protein. (J:237132)

Disease models

Expression

In Mice Carrying this Mutation:	10 assay results
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 Dnah11 Mutation: 217 strains or lines available

References

• Original: J:163196 Kamp A, et al., Genome-wide identification of mouse congenital heart disease loci. Hum Mol Genet. 2010 Aug 15;19(16):3105-13
• All: 2 reference(s)