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Qsox1b2b2673Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Qsox1b2b2673Clo
Name: quiescin Q6 sulfhydryl oxidase 1; Bench to Bassinet Program (B2B/CVDC) mutation 2673, Cecilia Lo
MGI ID: MGI:5615575
Gene: Qsox1  Location: Chr1:155778155-155812899 bp, - strand  Genetic Position: Chr1, 67.64 cM, cytoband G3
Mutant (E16.5) exhibits persistent truncus arteriosis (PTA) which was confirmed by ECM histopathology.

Show the 10 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsThis ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is an A to G substitution at coding nucleotide 262 in exon 1 of the cDNA (c.262A>G, NM_023268). This changes the asparagine residue to aspartic acid at position 88 of the encoded protein (p.N88D). (J:175213)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 10 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Qsox1 Mutation:  3 strains or lines available
Notes
Summative Diagnosis:
Complex congenital heart disease associated with persistent truncus arteriosus (PTA), atriventricular septal defect (AVSD), aortic arch anomalies such as incomplete vascular ring.

Noncardiovascular phenotype: micropthalmia/anopthalmia, short snout, micrognathia, cleft palate, tracheosophageal fistula, preaxial digit duplication on all four limbs, hypoplastic spleen.

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 Codes Code Description
500 Truncus arteriosus
1100 Atrioventricular canal (endocardial cushion defect)
2730 Aberrant left subclavian artery
2760 Vascular ring
4044 VATERS/VACTERLS Syndrome
4103 Polydactyly
4163 Micrognathia
4202 Tracheoesophageal fistula
4864 Anophthalmia
4876 Cleft palate
4877 Microphthalmia
4906 Non-cardiac abnormality

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)
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last database update
11/05/2019
MGI 6.14
The Jackson Laboratory