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Mmp21b2b2458Clo
Chemically induced Allele Detail
Summary
Symbol: Mmp21b2b2458Clo
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: Mmp21b2b2458Clo 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 detailsThis 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, Mmp21b2b2458Clo, and may be present in stocks carrying this mutation.
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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)

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
03/19/2024
MGI 6.23
The Jackson Laboratory