Sufu^b2b273Clo
Chemically induced Allele Detail

Summary

• Symbol: Sufu^b2b273Clo
• Name: SUFU negative regulator of hedgehog signaling; Bench to Bassinet Program (B2B/CVDC), mutation 273 Cecilia Lo
• MGI ID: MGI:5313712
• Gene: Sufu Location: Chr19:46385335-46477243 bp, + strand Genetic Position: Chr19, 38.85 cM
• Alliance: Sufu^b2b273Clo page

Preaxial digit duplication in mutant 273-003-NE

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 a T to A substitution at coding nucleotide 530 in exon 4 of the cDNA (c.530T>A, NM_001025391). This changes the methionine residue to lysine at position 177 of the encoded protein (p.M177K). Additional incidental mutations were detected in sequencing for the causative mutation, Sufu^b2b273Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

5 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 Sufu Mutation: 59 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular defect: Double Outlet Right Ventricle (DORV), overriding aorta, perimembranous and muscular ventricular septal defect (pmVSD, mVSD), and high take-off coronary arteries.
Noncardiovascular defects: Polydactyly, microcephaly, micrognathia, cleft palate, dome shaped head.

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
1310	Ventricular septal defect, membranous
1320	Ventricular septal defect, muscular
2230	Coronary fistula (arterio-venous or arterio-cameral)
3804	Congenital heart disease
4103	Polydactyly
4876	Cleft palate

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)