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Allele : Mmp21<b2b873Clo> matrix metallopeptidase 21; Bench to Bassinet Program (B2B/CVDC), mutation 873 Cecilia Lo
Primary Identifier  MGI:5311376 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 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

molecularNote  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).
  • mutations:
  • Single point mutation
  • synonyms:
  • Miri (line 873),
  • c.G530T,
  • Miri,
  • c.G530T,
  • Miri (line 873),
  • p.Trp177Leu,
  • Miri,
  • p.Trp177Leu
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

5 Publication categories





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