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Allele : Acan<b2b183Clo> aggrecan; Bench to Bassinet Program (B2B/CVDC), mutation 183 Cecilia Lo
Primary Identifier  MGI:5297419 Allele Type  Chemically induced (ENU)
Gene  Acan Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis
Cardiovascular defects: Biventricular hypertrophy
Non-cardiovascular defects: Cleft palate, Disproportionate dwarfism with brachypodism
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
1845 Hypertrophic cardiomyopathy
4876 Cleft palate

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 1032 in exon 6 of the cDNA (c.1032T>A, NM_007424). This changes the tyrosine residue to a translation stop at position 344 of the encoded protein (p.Y344*).
  • mutations:
  • Single point mutation
  • synonyms:
  • Sancho Panza,
  • Sancho Panza
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

4 Publication categories





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