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Allele : Dnah5<b2b1565Clo> dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 1565 Cecilia Lo
Primary Identifier  MGI:5430344 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 phenotype: Laterality defects associated with situs inversus totalis
Noncardiovascular phenotype: Situs inversus totalis with immotile airway 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 Code ID Code Description
0100 Situs inversus totalis
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 T-to-A single point mutation at position 13210 of the cDNA (c.T13210A, NM_133365) that is predicted to cause a serine to threonine amino acid substitution at position 4404 of the encoded protein (p.S4404T).
  • mutations:
  • Single point mutation
  • synonyms:
  • Dnahc5<c.T13210A>,
  • Sleepy,
  • Sleepy,
  • Dnahc5<c.T13210A>
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Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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