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Chemically induced Allele Detail
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
Mutant 1468-008-LA exhibits situs inversus totalis.

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

Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsThis 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)
View phenotypes and curated references for all genotypes (concatenated display).
In Structures Affected by this Mutation: 3 anatomical structures
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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:  138 strains or lines available
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

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). 2011-15;
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)
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last database update
MGI 6.21
The Jackson Laboratory