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Allele : Mmp21<b2b2458Clo> matrix metallopeptidase 21; Bench to Bassinet Program (B2B/CVDC), mutation 2458 Cecilia Lo
Primary Identifier  MGI:5554438 Allele Type  Chemically induced (ENU)
Gene  Mmp21 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  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

molecularNote  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).
  • mutations:
  • Single point mutation
  • synonyms:
  • Koli,
  • p.Tyr325Asn,
  • c.T973A,
  • p.Tyr325Asn,
  • Koli,
  • c.T973A
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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2 Carried By

Trail: Allele

0 Driven By

6 Publication categories

Trail: Allele




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