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Allele : Dnah11<b2b1468.2Clo> dynein, axonemal, heavy chain 11; Bench to Bassinet Program (B2B/CVDC) mutation 1468, subline 2, Cecilia Lo

Primary Identifier  MGI:5696351 Allele Type  Chemically induced (ENU)
Gene  Dnah11 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  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



molecularNote  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).
  • mutations:
  • Single point mutation
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele