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Ift74b2b796Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Ift74b2b796Clo
Name: intraflagellar transport 74; Bench to Bassinet Program (B2B/CVDC), mutation 796 Cecilia Lo
MGI ID: MGI:5311374
Synonyms: Princess Leia
Gene: Ift74  Location: Chr4:94614491-94693229 bp, + strand  Genetic Position: Chr4, 43.34 cM, cytoband C5
Mutant 796-002-NA shows DORV and dual IVC confirmed by micro-CT scan

Show the 11 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis 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 1645 in exon 19 of the cDNA (c.1645T>C, NM_026319). This changes the tryptophan residue to arginine at position 549 of the encoded protein (p.W549R). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Ift74b2b796Clo, and may be present in stocks carrying this mutation.
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 4 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Ift74 Mutation:  9 strains or lines available
Notes
Summative Diagnosis:
Cardiovascular phenotype: Heterotaxy syndrome (ambiguous lung lobation) with congenital heart disease: Double outlet right ventricle (DORV), atrial-ventricular septal defect (AVSD) and dual inferior vena cava (IVC)

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
0190 Heterotaxy syndrome
0606 DORV + AVSD (AV canal)
1100 Atrioventricular canal (endocardial cushion defect)
1140 Common atrium
2810 Inferior vena cava anomaly
3804 Congenital heart disease
4235 Pulmonary malformation

References
Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-15;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
08/13/2019
MGI 6.14
The Jackson Laboratory