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Allele : Ift140<b2b1283Clo> intraflagellar transport 140; Bench to Bassinet Program (B2B/CVDC), mutation 1283 Cecilia Lo
Primary Identifier  MGI:5560263 Allele Type  Chemically induced (ENU)
Gene  Ift140 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular phenotype: Complex congenital heart defects including persistent truncus arteriosis (PTA), atrioventricular septal defect (AVSD), and right sided aortic arch (RAA).
Noncardiovascular phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as asplenia, left pulmonary isomerism, and liver isomerism. Also observed were cleft palate, preaxial digit duplication, malalignment of the sternovertebrae, and cystic kidneys.

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
0500 Truncus arteriosus
1100 Atrioventricular canal (endocardial cushion defect)
2700 Abnormal aortic arch
2720 Right aortic arch
4100 Skeletal, skin, muscle anomaly
4103 Polydactyly
4170 Hand and/or foot anomaly
4239 Left bronchial isomerism
4876 Cleft palate
4906 Non-cardiac abnormality
4907 Non-cardiac thoracic abnormality

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is an A to G substitution at coding nucleotide 1138 in exon 9 of the cDNA (c.1138A>G, NM_134126). This changes the asparagine residue to aspartic acid at position 380 of the encoded protein (p.N380D).
  • 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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