Mmp21^b2b2458Clo
Chemically induced Allele Detail

Summary

• Symbol: Mmp21^b2b2458Clo
• Name: matrix metallopeptidase 21; Bench to Bassinet Program (B2B/CVDC), mutation 2458 Cecilia Lo
• MGI ID: MGI:5554438
• Synonyms: c.T973A, Koli, p.Tyr325Asn
• Gene: Mmp21 Location: Chr7:133275999-133281790 bp, - strand Genetic Position: Chr7, 77.24 cM
• Alliance: Mmp21^b2b2458Clo page

Mutant 2458-002-LA exhibits heterotaxy with levocardia, right lung isomerism (3R/3L), dextrogastria, and interrupted aortic arch which is confirmed by EFIC imaging

Show the 23 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 T to A substitution at coding nucleotide 973 in exon 4 of the cDNA (c.973T>A, NM_152944). This changes the tyrosine residue to asparagine at position 325 of the encoded protein (p.Y325N). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Mmp21^b2b2458Clo, and may be present in stocks carrying this mutation.

Disease models

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Mmp21 Mutation: 28 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotype: Complex congenital heart disease associated with heterotaxy, such as dextrocardia, double outlet right ventricle (DORV) or DORV Taussig-Bing subtype, transposition of the great arteries (TGA), atrioventricular septal defect (AVSD), superior-inferior ventricles, and hypoplastic right ventricle (RV)
Noncardiovascular phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, right pulmonary isomerism, malaligned sternal vertebrae, and inverted liver lobation. Also observed were micrognathia.

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)
0610	DORV, Taussig bing
0190	Heterotaxy syndrome
0700	D-loop transposition of the great arteries
1100	Atrioventricular canal (endocardial cushion defect)
1821	Hypoplastic right ventricle (subnormal cavity volume)
4100	Skeletal, skin, muscle anomaly
4163	Micrognathia
4240	Right bronchial isomerism
4400	Gastrointestinal anomaly
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: 4 reference(s)