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Targeted Allele Detail
Symbol: Ednrbtm1.1Nrd
Name: endothelin receptor type B; targeted mutation 1.1, Noah Druckenbrod
MGI ID: MGI:5804183
Synonyms: EdnrB-
Gene: Ednrb  Location: Chr14:103814625-103844173 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.

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+
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
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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:  74 strains or lines available
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)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
The Jackson Laboratory