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Ift140b2b1283Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Ift140b2b1283Clo
Name: intraflagellar transport 140; Bench to Bassinet Program (B2B/CVDC), mutation 1283 Cecilia Lo
MGI ID: MGI:5560263
Gene: Ift140  Location: Chr17:25016085-25099495 bp, + strand  Genetic Position: Chr17, 12.53 cM
Mutant 1283-007-NA exhibits abnormal arrangement of the outflow tracts with the aorta anterior, RAA, and thickened ventricular wall. Sample is diagnosed with PTA and biventricular hypertrophy by EFIC imaging

Show the 15 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 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). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Ift140b2b1283Clo, 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: 7 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Ift140 Mutation:  49 strains or lines available
Notes
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

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
02/11/2020
MGI 6.14
The Jackson Laboratory