Dnah5^hlb612
Chemically induced Allele Detail

Summary

• Symbol: Dnah5^hlb612
• Name: dynein, axonemal, heavy chain 5; heart, lung and blood 612
• MGI ID: MGI:3722326
• Synonyms: Dnahc5^del593, Mdnah5^del267-859
• Gene: Dnah5 Location: Chr15:28203898-28472198 bp, + strand Genetic Position: Chr15, 10.9 cM
• Alliance: Dnah5^hlb612 page

Situs anomalies in Dnah5^hlb612/Dnah5^hlb612 mice

Show the 6 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Intragenic deletion
• Mutation details: 29,755 base pairs containing exons 7 through 17 were deleted by ENU mutgenesis. This resulted in a 593 amino acid deletion in the protein and deletion of the DHC_N1 domain. (J:130755)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

15 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 Dnah5 Mutation: 252 strains or lines available

References

• Original: J:130755 Tan SY, et al., Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia. J Clin Invest. 2007 Dec;117(12):3742-52
• All: 4 reference(s)