Qsox1^b2b2673Clo
Chemically induced Allele Detail

Summary

• Symbol: Qsox1^b2b2673Clo
• Name: quiescin Q6 sulfhydryl oxidase 1; Bench to Bassinet Program (B2B/CVDC) mutation 2673, Cecilia Lo
• MGI ID: MGI:5615575
• Gene: Qsox1 Location: Chr1:155653901-155688645 bp, - strand Genetic Position: Chr1, 67.64 cM, cytoband G3
• Alliance: Qsox1^b2b2673Clo page

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 details: This 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)

Disease models

Expression

In Structures Affected by this Mutation:

10 anatomical structure(s)

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: 26 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). 2011-09-12
• All: 2 reference(s)