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Qrich1b2b2404Clo
Chemically induced Allele Detail
Summary
Symbol: Qrich1b2b2404Clo
Name: glutamine-rich 1; Bench to Bassinet Program (B2B/CVDC), mutation 2404 Cecilia Lo
MGI ID: MGI:5554436
Synonyms: Wycleft
Gene: Qrich1  Location: Chr9:108394010-108437366 bp, + strand  Genetic Position: Chr9, 59.45 cM
Alliance: Qrich1b2b2404Clo page
Mutant 2404-002-3 (E15.5) has abnormal great artery arrangement associated with malrotation of the heart, and subsequently was shown to be DORV by EFIC imaging

Show the 19 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Undefined
 
Mutation detailsThis ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to C substitution at coding nucleotide 1823 in exon 8 of the cDNA (c.1823T>C, NM_001114119). This changes the methionine residue to threonine at position 608 of the encoded protein (p.M608T). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Qrich1b2b2404Clo, and may be present in stocks carrying this mutation.
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 4 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Qrich1 Mutation:  61 strains or lines available
Notes
Summative Diagnosis:
Cardiovascular Phenotype: Overriding aorta/Double outlet right ventricle (DORV) with ventricular (VSD) and atrioventricular septal defects (AVSD) and ventricular non-compaction
Noncardiovascular Phenotype: Cleft palate, cystic kidneys, hypoplastic thymus

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
0606 DORV + AVSD (AV canal)
1300 Ventricular septal defect
1310 Ventricular septal defect, membranous
1432 Overriding aortic valve
1802 Excessive myocardial trabeculation or noncompaction
4876 Cleft palate
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:  3 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
12/10/2024
MGI 6.24
The Jackson Laboratory