Mfrp^rdx
Spontaneous Allele Detail

Summary

• Symbol: Mfrp^rdx
• Name: membrane frizzled-related protein; retinal degeneration x
• MGI ID: MGI:5312653
• Synonyms: Mfrp^174delG
• Gene: Mfrp Location: Chr9:44013067-44020484 bp, + strand Genetic Position: Chr9, 24.6 cM
• Alliance: Mfrp^rdx page

Mutation origin

• Strain of Origin: 129S-Per3^tm1Drw/J

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: A spontaneous mutation resulted in the the deletion of a single G nucleotide from the GGGGG sequence in exon 3. This mutation causes a frame shift and premature stop codon in the first third of the 14 predicted exons. Western blot analysis confirmed the absence of protein expression in whole eyecups. (J:181596)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Mfrp Mutation: 27 strains or lines available

Notes

This mutation was originally identified in mice carrying Per3^tm1Drw on a 129 background.

References

• Original: J:181596 Fogerty J, et al., 174delG mutation in mouse MFRP causes photoreceptor degeneration and RPE atrophy. Invest Ophthalmol Vis Sci. 2011 Sep;52(10):7256-66
• All: 2 reference(s)