S1pr2^stdf
Spontaneous Allele Detail

Summary

• Symbol: S1pr2^stdf
• Name: sphingosine-1-phosphate receptor 2; stonedeaf
• MGI ID: MGI:5423977
• Gene: S1pr2 Location: Chr9:20877248-20888089 bp, - strand Genetic Position: Chr9, 7.68 cM
• Alliance: S1pr2^stdf page

Mutation origin

• Strain of Origin: C57BL/6Brd-Tyr^c-Brd

Mutation description

• Allele Type: Spontaneous (Modified isoform(s))
• Mutation: Single point mutation
• Mutation details: The molecular lesion is a C-to-G transition in codon 289, resulting in a threonine to arginine change (p.T289R) in a highly conserved region of the encoded protein. The encoded protein is expressed at similar levels and a similar spatiotemporal manner in controls and in homozygous mice, as assayed by immunohistochemistry. (J:240361)

Disease models

Expression

In Structures Affected by this Mutation:

4 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 S1pr2 Mutation: 46 strains or lines available

References

• Original: J:240361 Ingham NJ, et al., S1PR2 variants associated with auditory function in humans and endocochlear potential decline in mouse. Sci Rep. 2016 Jul 07;6:28964
• All: 2 reference(s)