Abca4^tm1.1Rsmy
Targeted Allele Detail

Summary

• Symbol: Abca4^tm1.1Rsmy
• Name: ATP-binding cassette, sub-family A member 4; targeted mutation 1.1, Robert S Molday
• MGI ID: MGI:6159285
• Synonyms: N965S
• Gene: Abca4 Location: Chr3:121838092-121973772 bp, + strand Genetic Position: Chr3, 52.94 cM
• Alliance: Abca4^tm1.1Rsmy page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:255529
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Humanized sequence, Hypomorph)
• Mutations: Insertion, Single point mutation
• Mutation details: An A to G substitution resulting in replacement of asparagine at position 965 for a serine (N965S) was introduced in exon 19. A FRT-flanked neomycin selection cassette was inserted upstream of exon 19 (604 bp 5' to the point mutation). Flp-mediated recombination removed the neomycin cassette. This corresponds to a Stargardt disease-associated mutation in the Walker A motif of nuclear binding domain 1. Western blot analysis indicates that the amount of protein expressed in heterozygous photoreceptors is half that of wild-type mice. (J:255529)

Disease models

Expression

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Abca4 Mutation: 108 strains or lines available

References

• Original: J:255529 Molday LL, et al., Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration. Hum Mol Genet. 2018 Jan 15;27(2):295-306
• All: 1 reference(s)