Mfrp^tm1.1Rayy
Targeted Allele Detail

Summary

• Symbol: Mfrp^tm1.1Rayy
• Name: membrane frizzled-related protein; targeted mutation 1.1, Radha Ayyagari
• MGI ID: MGI:7444784
• Synonyms: Mfrp^KI
• Gene: Mfrp Location: Chr9:44013067-44020484 bp, + strand Genetic Position: Chr9, 24.6 cM
• Alliance: Mfrp^tm1.1Rayy page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:333981
• Parent Cell Line: iTL IC1 (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A vector containing exons 1-2, a loxP site, exons 3-9 with a 1 bp insertion of cytosine at c.498_499 (c.498_499insC) in exon 5, an FRT site, loxP site, neomycin cassette, FRT site, and loxP site, and exons 10-12 replaced exons 1-12. The neomycin cassette was removed via flp-mediated recombination, leaving exons 3-9 with the mutation in exon 5 floxed. The homozygous c.498_499insC mutation has been identified in a family with hyperopia, microphthalmia, retinitis pigmentosa, retinal pigment epithelial atrophy, variable degrees of foveal edema, and opti disc drusen, newly described as MFRP-associated retinopathy. Mice free of the Crb1^rd8 mutation were used to generate the colony. (J:333981)

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: 28 strains or lines available

References

• Original: J:333981 Chekuri A, et al., Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP-Associated Retinopathy. Hum Gene Ther. 2019 May;30(5):632-650
• All: 2 reference(s)