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Allele : Snx17<b2b1625.1Clo> sorting nexin 17; Bench to Bassinet Program (B2B/CVDC), mutation 1625, subline 1 Cecilia Lo
Primary Identifier  MGI:5489924 Allele Type  Chemically induced (ENU)
Gene  Snx17 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  This mutation is present in a subline of b2b1625Clo.

Summative Diagnosis:
Cardiac phenotype: Double outlet right ventricle (DORV)/overriding aorta (Ao), atrioventricular septal defect (AVSD)
Noncardiac phenotype: Anopthalmia, duplex kidneys

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
0600 Double outlet right ventricle
1100 Atrioventricular canal (endocardial cushion defect)
1432 Overriding aortic valve
4864 Anophthalmia

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b1625Clo. The molecular lesion is an A to G substituation at coding nucleotide 431 in exon 5 of the cDNA (c.431A>G, NM_153680). This changes the glutamic acid residue to glycine at position 144 of the encoded protein (p.E144G).
  • mutations:
  • Single point mutation
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

5 Publication categories





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