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Allele : Sufu<b2b273Clo> SUFU negative regulator of hedgehog signaling; Bench to Bassinet Program (B2B/CVDC), mutation 273 Cecilia Lo
Primary Identifier  MGI:5313712 Allele Type  Chemically induced (ENU)
Gene  Sufu Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  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

molecularNote  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).
  • mutations:
  • Single point mutation
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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