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Ece1tm1Reh
Targeted Allele Detail
Summary
Symbol: Ece1tm1Reh
Name: endothelin converting enzyme 1; targeted mutation 1, Robert E Hammer
MGI ID: MGI:2158947
Synonyms: ECE-1 -
Gene: Ece1  Location: Chr4:137589548-137692540 bp, + strand  Genetic Position: Chr4, 70.02 cM
Alliance: Ece1tm1Reh page
Cardiac defects in Ece1tm1Reh/Ece1tm1Reh and Ece1tm1Reh/Ece1tm1Reh Ece2tm1Ywa/Ece2tm1Ywa embryos

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:46640
Parent Cell Line:  SM1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA neomycin selection cassette replaced an exon containing coding sequences upstream of the zinc-binding motif. Western blot analysis on membrane preparations of homozygous E17-19 embryos confirmed that no detectable encoded protein was produced from this allele. (J:46640)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 8 assay results
In Structures Affected by this Mutation: 38 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Ece1 Mutation:  137 strains or lines available
References
Original:  J:46640 Yanagisawa H, et al., Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene. Development. 1998 Mar;125(5):825-36
All:  14 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory