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Allele : Qsox1<b2b2673Clo> quiescin Q6 sulfhydryl oxidase 1; Bench to Bassinet Program (B2B/CVDC) mutation 2673, Cecilia Lo
Primary Identifier  MGI:5615575 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Qsox1
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false Project Collection  B2B/CvDC
description  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

molecularNote  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).
  • 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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1 Carried By

0 Driven By

4 Publication categories





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