Rfx3^b2b1213Clo
Chemically induced Allele Detail

Summary

• Symbol: Rfx3^b2b1213Clo
• Name: regulatory factor X, 3 (influences HLA class II expression); Bench to Bassinet Program (B2B/CVDC), mutation 1213 Cecilia Lo
• MGI ID: MGI:5560494
• Gene: Rfx3 Location: Chr19:27739121-27988566 bp, - strand Genetic Position: Chr19, 22.36 cM, cytoband C1
• Alliance: Rfx3^b2b1213Clo page

Mutant 1213-003-NA exhibits normal outflow

Show the 4 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 C to T substitution at coding nucleotide 826 in exon 7 of the cDNA (c.826C>T, NM_011265). This changes the glutamine residue to a translation stop at position 276 in the encoded protein (p.Q276*). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Rfx3^b2b1213Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Rfx3 Mutation: 68 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotype: Heterotaxy with hypertrophic cardiomyopathy and ventricular septal defect (VSD)
Noncardiovascular phenotype: Abnormal visceral organ situs

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
1300	Ventricular septal defect
1845	Hypertrophic cardiomyopathy

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)