Dnah11^b2b1468.2Clo
Chemically induced Allele Detail

Summary

• Symbol: Dnah11^b2b1468.2Clo
• Name: dynein, axonemal, heavy chain 11; Bench to Bassinet Program (B2B/CVDC) mutation 1468, subline 2, Cecilia Lo
• MGI ID: MGI:5696351
• Gene: Dnah11 Location: Chr12:117841717-118162778 bp, - strand Genetic Position: Chr12, 63.25 cM
• Alliance: Dnah11^b2b1468.2Clo page

Mutant 1468-008-LA exhibits situs inversus totalis.

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: B2B/CvDC

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b1468Clo. The molecular lesion for this subline is attributed to an A to G substitution at coding nucleotide position 5966 in exon 35 of the cDNA (c.5966A>G, NM_010060). This changes the asparagine residue to serine at position 1989 of the encoded protein (p.N1989S). (J:175213)

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 Dnah11 Mutation: 217 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotypes: Situs inversus with mirror image dextrocardia

Noncardiovascular phenotype: Immotile cilia in the tracheal airway epithelia

Phenotypic Similarity to Human Syndrome:
Primary ciliary dyskinesia

Kartagener's syndrome

References

• Original: J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-09-12
• All: 1 reference(s)