Ermp1^b2b2633Clo
Chemically induced Allele Detail

Summary

• Symbol: Ermp1^b2b2633Clo
• Name: endoplasmic reticulum metallopeptidase 1; Bench to Bassinet Program (B2B/CVDC), mutation 2633 Cecilia Lo
• MGI ID: MGI:5615223
• Gene: Ermp1 Location: Chr19:29587276-29625815 bp, - strand Genetic Position: Chr19, 24.17 cM
• Alliance: Ermp1^b2b2633Clo page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: B2B/CvDC

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Undefined
• Mutation details: 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*). (J:175213)

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Ermp1 Mutation: 47 strains or lines available

Notes

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

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: 2 reference(s)