Ednrb^tm1.1Nrd
Targeted Allele Detail

Summary

• Symbol: Ednrb^tm1.1Nrd
• Name: endothelin receptor type B; targeted mutation 1.1, Noah Druckenbrod
• MGI ID: MGI:5804183
• Synonyms: EdnrB^-
• Gene: Ednrb Location: Chr14:104052055-104081764 bp, - strand Genetic Position: Chr14, 53.05 cM
• Alliance: Ednrb^tm1.1Nrd page

The Ednrb^tm1.1Nrd/Ednrb^tm1.1Nrd 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 details: A 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 Ednrb^tm1.1Nrd allele

Disease models

Expression

In Structures Affected by this Mutation:

6 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 Ednrb Mutation: 104 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: 2 reference(s)