Gldc^b2b2679Clo
Chemically induced Allele Detail

Summary

• Symbol: Gldc^b2b2679Clo
• Name: glycine decarboxylase; Bench to Bassinet Program (B2B/CVDC), mutation 2679 Cecilia Lo
• MGI ID: MGI:5560908
• Gene: Gldc Location: Chr19:30075847-30152829 bp, - strand Genetic Position: Chr19, 24.87 cM, cytoband C
• Alliance: Gldc^b2b2679Clo page

Mutant 2679-006-2 (E15.5) shows parallel outflow tracts, which is diagnosed as DORV by EFIC imaging

Show the 6 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 details: This 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 2440 in exon 20 of the cDNA (c.2440T>C, NM_138595). This changes the serine residue to proline at position 814 of the encoded protein (p.S814P). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Gldc^b2b2679Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Gldc Mutation: 70 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular Phenotype: Double outlet right ventricle (DORV) with non-commited ventricular septal defect (VSD)
Noncardiovascular Phenotype: Exencephaly, short snout, agnathia, omphalocele, cystic kidney, and hydronephrosis

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
1300	Ventricular septal defect
4134	Skull anomaly, congenital
4401	Cleft palate and cleft lip
4404	Omphalocele
4502	Hydronephrosis
4864	Anophthalmia
4906	Non-cardiac abnormality
4907	Non-cardiac thoracic 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)