Ift74^b2b796Clo
Chemically induced Allele Detail

Summary

• Symbol: Ift74^b2b796Clo
• Name: intraflagellar transport 74; Bench to Bassinet Program (B2B/CVDC), mutation 796 Cecilia Lo
• MGI ID: MGI:5311374
• Synonyms: Princess Leia
• Gene: Ift74 Location: Chr4:94502728-94581466 bp, + strand Genetic Position: Chr4, 43.34 cM, cytoband C5
• Alliance: Ift74^b2b796Clo page

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 details: 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 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, Ift74^b2b796Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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: 44 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). 2011-09-12
• All: 2 reference(s)