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Allele : Ermp1<b2b2633Clo> endoplasmic reticulum metallopeptidase 1; Bench to Bassinet Program (B2B/CVDC), mutation 2633 Cecilia Lo
Primary Identifier  MGI:5615223 Allele Type  Chemically induced (ENU)
Gene  Ermp1 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular phenotypes: double outlet right ventricle (DORV), aortic arch anomalies with interrupted aortic (IAA) arch type B, right aortic arch (RAA), vascular ring

Noncardiovascular phenotype: craniofacial anomalies including short snout, severe facial clefting with cleft palate, bilateral anopthalmia, renal dysplasia

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 Codes Code Description
1252 Interrupted aortic arch type b
2720 Right aortic arch
2730 Aberrant left subclavian artery
2760 Vascular ring
4401 Cleft palate and cleft lip
4512 Renal malformation
4864 Anophthalmia
6030 DORV, ventricular defect uncommitted

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a C to T substitution at coding nucleotide 772 in exon 4 of the cDNA (c.772C>T, NM_001081213). This changes the glutamine residue to a translation stop at position 258 of the encoded protein (p.Q258*). 
  • mutations:
  • Undefined
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

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4 Publication categories





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