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Ednrbtm1.1Nrd
Targeted Allele Detail
Nomenclature
Symbol: Ednrbtm1.1Nrd
Name: endothelin receptor type B; targeted mutation 1.1, Noah Druckenbrod
MGI ID: MGI:5804183
Synonyms: EdnrB-
Gene: Ednrb  Location: Chr14:103814625-103844402 bp, - strand  Genetic Position: Chr14, 53.05 cM
The Ednrbtm1.1Nrd/Ednrbtm1.1Nrd pups are smaller and have black spots due to a melanin pigmentation defect

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

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:226561
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA floxed neo cassette was placed upstream of exon 3 and an additional loxP site was inserted downstream of exon 3. Cre-mediated recombination removed the neo cassette and exon 3, resulting in an out-of-frame transcript of exon 2-4 splicing. qRT-PCR analysis of RNA isolated from the left and right cardiac ventricles confirmed that expression is absent in homozygous and reduced to approximately half in heterozygous mutant mice. (J:226561)
Generation of the Ednrbtm1.1Nrd allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 6 anatomical structures
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 Ednrb Mutation:  77 strains or lines available
References
Original:  J:226561 Stobdan T, et al., Endothelin receptor B, a candidate gene from human studies at high altitude, improves cardiac tolerance to hypoxia in genetically engineered heterozygote mice. Proc Natl Acad Sci U S A. 2015 Aug 18;112(33):10425-30
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/11/2018
MGI 6.12
The Jackson Laboratory