Dtnbp1^sdy
Spontaneous Allele Detail

Summary

• Symbol: Dtnbp1^sdy
• Name: dystrobrevin binding protein 1; sandy
• MGI ID: MGI:1856628
• Synonyms: Bloc1s8^sdy, Dys^-, Dys KO, sdy, sdy^-
• Gene: Dtnbp1 Location: Chr13:45075552-45155614 bp, - strand Genetic Position: Chr13, 21.73 cM
• Alliance: Dtnbp1^sdy page

Mutation origin

• Strain of Origin: DBA/2J

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: The mutation in the sandy mouse has been attributed to a deletion in the Dtnbp1 gene from intron 5 nucleotide 3701 to intron 7 nucleotide 12377. The deletion results in the loss of 52 amino acids from position 119-172 and abolishes expression of the protein. Western analysis did not detect protein in hippocampus tissue from homozygous mutant mice. (J:85123, J:169460)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	10 assay results
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 Dtnbp1 Mutation: 28 strains or lines available

References

• Original: J:14267 Sweet HO, Sandy (sdy). Mouse Genome. 1990;86:237
• All: 61 reference(s)