Ednrb^s-l
Spontaneous Allele Detail

Summary

• Symbol: Ednrb^s-l
• Name: endothelin receptor type B; piebald lethal
• MGI ID: MGI:1856149
• Synonyms: s^l
• Gene: Ednrb Location: Chr14:104052055-104081764 bp, - strand Genetic Position: Chr14, 53.05 cM
• Alliance: Ednrb^s-l page

Ednrb^s-l/Ednrb^s-l

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

Mutation origin

• Strain of Origin: (C3H/HeJ x C57BL/6)F2

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: Southern blotting revealed that all of the coding exons of the gene were deleted. In addition, the transcript was undetectable by northern blotting in homozygous mice. The deletion encompasses 97,637 base pairs of chromosome 14, beginning 15.72 kb upstream of Ednrb and continuing 54.98 kb downstream. According to the Ensembl genome database (m37), no other genes are located in the region that is deleted. (J:22206, J:200162)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	1 assay results
In Structures Affected by this Mutation:	7 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Ednrb Mutation: 104 strains or lines available

References

• Original: J:5008 Lane PW, Association of megacolon with two recessive spotting genes in the mouse. J Hered. 1966 Jan-Feb;57(1):29-31
• All: 20 reference(s)