About   Help   FAQ
Sufub2b273Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Sufub2b273Clo
Name: SUFU negative regulator of hedgehog signaling; Bench to Bassinet Program (B2B/CVDC), mutation 273 Cecilia Lo
MGI ID: MGI:5313712
Gene: Sufu  Location: Chr19:46396896-46488804 bp, + strand  Genetic Position: Chr19, 38.85 cM
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 detailsThis 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, Sufub2b273Clo, and may be present in stocks carrying this mutation.
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 5 anatomical structures
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:  18 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). 2011-15;
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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
03/30/2021
MGI 6.16
The Jackson Laboratory