Ift140^b2b1283Clo
Chemically induced Allele Detail

Summary

• Symbol: Ift140^b2b1283Clo
• Name: intraflagellar transport 140; Bench to Bassinet Program (B2B/CVDC), mutation 1283 Cecilia Lo
• MGI ID: MGI:5560263
• Gene: Ift140 Location: Chr17:25235056-25318461 bp, + strand Genetic Position: Chr17, 12.53 cM
• Alliance: Ift140^b2b1283Clo page

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 details: 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). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Ift140^b2b1283Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

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: 71 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). 2011-09-12
• All: 2 reference(s)