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Allele : Dnah5<b2b2570Clo> dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 2570 Cecilia Lo
Primary Identifier  MGI:5614979 Allele Type  Chemically induced (ENU)
Gene  Dnah5 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular phenotypes: Dextrocardia associated with situs inversus totalis and also complex congenital heart disease associated with heterotaxy.

Noncardiovascular phenotype: Visceral organ situs anomalies, tracheal epithelia exhibits immotile 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
110 Dextrocardia
3816 Abdominal situs inversus
4851 Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a C to T substitution at coding nucleotide 8374 in exon 50 of the cDNA (c.8374C>T, NM_133365). This changes the arginine residue to a translation stop at position 2792 of the encoded protein (p.R2792*).
  • mutations:
  • Single point mutation
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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