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Allele : Dnai1<b2b1526Clo> dynein axonemal intermediate chain 1; Bench to Bassinet Program (B2B/CVDC), mutation 1526 Cecilia Lo
Primary Identifier  MGI:5317589 Allele Type  Chemically induced (ENU)
Gene  Dnai1 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular phenotype: Situs inversus totalis and heterotaxy with complex congenital heart disease such as dextrocardia, dual inferior vena cava (IVC), aortic arch stenosis, and biventricular hypertrophy
Noncardiovascular phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, malaligned sternal vertebra, hypoplastic spleen, liver isomerism, and left lung isomerism. Also observed were micrognathia, short snout, and immotile tracheal 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
0110 Dextrocardia
1410 Aortic stenosis
0190 Heterotaxy Syndrome
2810 Inferior vena cava anomaly
3804 Congenital heart disease
3816 Abdominal situs inversus
3817 Abdominal situs ambiguous (abdominal heterotaxy)
4100 Skeletal, skin, muscle anomaly
4163 Micrognathia
4239 Left bronchial isomerism
4851 Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
4906 Non-cardiac abnormality
4907 Non-cardiac thoracic abnormality
7505 Biventricular hypertrophy

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 1565 in exon 16 of the cDNA (c.1565T>C, NM_175138). This changes the isoleucine residue to threonine at position 522 of the encoded protein (p.I522T).
  • mutations:
  • Single point mutation
  • synonyms:
  • Spot,
  • Spot
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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

0 Driven By

4 Publication categories





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