Mfrp^rd6
Spontaneous Allele Detail

Summary

• Symbol: Mfrp^rd6
• Name: membrane frizzled-related protein; retinal degeneration 6
• MGI ID: MGI:1888705
• Gene: Mfrp Location: Chr9:44013067-44020484 bp, + strand Genetic Position: Chr9, 24.6 cM
• Alliance: Mfrp^rd6 page

Mutation origin

• Strain of Origin: C3fBAnl.Cg-Cat^b/AnlJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: The rd6 mutation was identified as a 4 bp deletion in the splice donor sequence of intron 4 in the Mfrp gene. The mutation results in the skipping of exon 4. While the mutation does not cause a frameshift, 58 amino acids are deleted from the protein. (J:78123)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 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 Mfrp Mutation: 27 strains or lines available

References

• Original: J:64087 Hawes NL, et al., Retinal degeneration 6 (rd6): a new mouse model for human retinitis punctata albescens. Invest Ophthalmol Vis Sci. 2000 Sep;41(10):3149-57
• All: 13 reference(s)