About   Help   FAQ
Dnah11b2b1468.2Clo
Chemically induced Allele Detail
Summary
Symbol: Dnah11b2b1468.2Clo
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: Dnah11b2b1468.2Clo 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)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
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)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory