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Chemically induced Allele Detail
Symbol: Gm572b2b1167Clo
Name: predicted gene 572; Bench to Bassinet Program (B2B/CVDC), mutation 1167 Cecilia Lo
MGI ID: MGI:5431499
Synonyms: Glow
Gene: Gm572  Location: Chr4:148727774-148756029 bp, + strand  Genetic Position: Chr4, 78.82 cM
Mutant 1167-020-LB shows heterotaxy with right lung isomerism

Show the 22 phenotype image(s) involving this allele.

Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsThis ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a G to A substitution at nucleotide +1 after coding nucleotide 26 (c.26+1G>A, NM_001085505) in intron 1. This changes splice donor site G-GT to G-AT (which is assumed to be inactive). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Gm572b2b1167Clo, and may be present in stocks carrying this mutation.
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 5 anatomical structures
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 Gm572 Mutation:  33 strains or lines available
Summative Diagnosis:
Cardiac phenotype: Laterality defects consisting of situs inversus totalis and heterotaxy with complex congenital heart disease such as dextrocardia with double outlet right ventricle (DORV), atrioventricular canal defect (AVSD), and transposition of the great arteries (TGA)
Noncardiac phenotype: hypoplastic spleen, right pulmonary isomerism, mid-line liver, immotile airway cilia

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
0100 Situs inversus totalis
0110 Dextrocardia
0600 Double outlet right ventricle
0700 D-loop transposition of the great arteries
1100 Atrioventricular canal (endocardial cushion defect)
190 Heterotaxy Syndrome
3804 Congenital heart disease
4240 Right bronchial isomerism
4851 Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)

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
MGI 6.21
The Jackson Laboratory