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Allele : Dnai2<b2b3405Clo> dynein axonemal intermediate chain 2; Bench to Bassinet Program (B2B/CVDC), mutation 3405 Cecilia Lo
Primary Identifier  MGI:5619080 Allele Type  Chemically induced (ENU)
Gene  Dnai2 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular phenotypes: Laterality defect with dextrocardia associated with situs inversus totalis.

Noncardiovascular phenotype: Visceral organ situs inversus, immotile respiratory cilia

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Codes Code Description
100 Situs inversus totalis
4851 Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
4906 Non-cardiac abnormality

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at coding nucleotide 1109 in exon 9 of the cDNA (c.1109T>A, NM_001034878). This changes the leucine residue to histidine at position 370 of the encoded protein (p.L370H).
  • mutations:
  • Undefined
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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