Dscam^del17
Spontaneous Allele Detail

Summary

• Symbol: Dscam^del17
• Name: DS cell adhesion molecule; deletion in exon 17
• MGI ID: MGI:3761008
• Synonyms: Dscam^J
• Gene: Dscam Location: Chr16:96392040-96971952 bp, - strand Genetic Position: Chr16, 57.02 cM, cytoband C
• Alliance: Dscam^del17 page

Mutation origin

• Strain of Origin: BALB/cByJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: The mutation comprises a 38-bp deletion in exon 17 causing a translational frame shift that results in the incorporation of ten incorrect amino acids before the premature termination of the protein within the second fibronectin repeat. mRNA levels in brains of homozygous mutant mice are reduced by 70%. (J:129238)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:	2 assay results
In Structures Affected by this Mutation:	18 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 Dscam Mutation: 105 strains or lines available

Notes

Phenotypic Similarity to Human Syndrome: Hydrocephalus J:222353.

References

• Original: J:129238 Fuerst PG, et al., Neurite arborization and mosaic spacing in the mouse retina require DSCAM. Nature. 2008 Jan 24;451(7177):470-4
• All: 17 reference(s)