Mmp21^b2b873Clo
Chemically induced Allele Detail

Summary

• Symbol: Mmp21^b2b873Clo
• Name: matrix metallopeptidase 21; Bench to Bassinet Program (B2B/CVDC), mutation 873 Cecilia Lo
• MGI ID: MGI:5311376
• Synonyms: c.G530T, Miri, Miri (line 873), p.Trp177Leu
• Gene: Mmp21 Location: Chr7:133275999-133281790 bp, - strand Genetic Position: Chr7, 77.24 cM
• Alliance: Mmp21^b2b873Clo page

Dextrocardia with anterior aorta, right pulmonary isomerism with bilateral 3 lung lobes, and mirror symmetric liver situs.

Show the 7 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 T substitution at coding nucleotide 530 in exon 2 of the cDNA (c.530G>T, NM_153944). This changes the tryptophan residue to leucine at position 177 of the encoded protein (p.W177L). Additional incidental mutations were detected in sequencing for the causative mutation, Mmp21^b2b873Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

2 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 defects: Heterotaxy with congenital heart disease (CHD), such as transposition of the great arteries (TGA), tricupid atresia (IIc), ventricular septal defect (VSD).

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
0190	Heterotaxy syndrome
0400	Tricuspid atresia
0700	D-loop transposition of the great arteries
1300	Ventricular septal defect
3804	Congenital heart disease

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)