Gm572^b2b1167Clo
Chemically induced Allele Detail

Summary

• Symbol: Gm572^b2b1167Clo
• 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
• Alliance: Gm572^b2b1167Clo page

Mutant 1167-020-LB shows heterotaxy with right lung isomerism

Show the 22 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: Single point mutation
• Mutation details: This 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, Gm572^b2b1167Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

6 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 Gm572 Mutation: 39 strains or lines available

Notes

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)

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)