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Allele : Dnah5<b2b1003Clo> dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 1003 Cecilia Lo
Primary Identifier  MGI:5297426 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 defects: Complex congenital heart defects associated with heterotaxy
Non-cardiovascular defects: Situs inversus totalis, as well as heterotaxy with abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria. Also observed were immotile airway cilia and kidney abnormalities

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
0190 Heterotaxy Syndrome
3817 Abdominal situs ambiguous (abdominal heterotaxy)
4512 Renal malformation
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 C substitution at coding nucleotide 5503 in exon 34 of the cDNA (c.5503T>C, NM_133365). This changes the tryptophan residue to arginine at position 1835 in the encoded protein (p.W1835R).
  • mutations:
  • Single point mutation
  • synonyms:
  • Dnahc5<c.T5503C>,
  • Dnahc5<c.T5503C>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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2 Carried By

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4 Publication categories





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